Prevalence of rare diseases: Bibliographic data

July 25, 2017 | Author: Heather White | Category: N/A
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Description

Prevalence distribution of rare diseases 200 180 160

Number of diseases

140 120 100 80

November Number 1 May 2014 2009

60 40 20 0 0

5

10

15

20

25

30

35

40

45

50

Estimated prevalence (/100000)

Prevalence of rare diseases: Bibliographic data Listed in alphabetical order of disease or group of diseases

www.orpha.net

Methodology

A systematic survey of the literature is being performed in order to provide an estimate of the prevalence of rare diseases in Europe. An updated report will be published regularly and will replace the previous version. This update contains new epidemiological data and modifications to existing data for which new information has been made available. Search strategy The search strategy is carried out using several data sources: - Websites: Orphanet, e-medicine, GeneClinics, EMA and OMIM ; - Registries, RARECARE - Medline is consulted using the search algorithm: «Disease names» AND Epidemiology[MeSH:NoExp] OR Incidence[Title/abstract] OR Prevalence[Title/ abstract] OR Epidemiology[Title/abstract] ; - Medical books, grey literature and reports from experts are also important sources of data.

Updated Data New information from available data sources: EMA, new scientific publications, grey literature, expert opinion. Limitation of the study The exact prevalence rate of each rare disease is difficult to assess from the available data sources. There is a low level of consistency between studies, a poor documentation of methods used, confusion between incidence and prevalence, and/or confusion between incidence at birth and life-long incidence. The validity of the published studies is taken for granted and not assessed. It is likely that there is an overestimation for most diseases as the few published prevalence surveys are usually done in regions of higher prevalence and are usually based on hospital data. Therefore, these estimates are an indication of the assumed prevalence but may not be accurate.

Collected data Prevalence values provided are the mean of the highest and lowest values collected. When prevalence is not documented we calculate it using incidence: - For congenital diseases with birth-onset, prevalence = incidence at birth x (patient life expectancy/ general population life expectancy) ; - For the other rare diseases, prevalence = incidence x rare disease mean duration ; When no prevalence or incidence data are available, the number of cases or families reported in the literature is provided. The * sign indicates a life time prevalence. The ** sign indicates a birth prevalence. It was used when the birth prevalence was the only data available and a prevalence estimate was not possible because of a large variability in the duration of the disease. NB: Life expectancy of the French population (81 years) is used as the general population life expectancy.

For any questions or comments, please contact us: [email protected]

2

Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - May 2014 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf

Prevalence or reported number of published cases listed in alphabetical order of disease or group of diseases

Number of Estimated published prevalence cases or (/100,000) families

ORPHA Disease or group of diseases Number

Number of Estimated published prevalence cases or (/100,000) families

4 cases

926

Acatalasemia

3.2

199318 15q13.3 microdeletion syndrome

150 cases

48818

Aceruloplasminemia

0.1

94065

15q24 microdeletion syndrome

4 cases

929

Achalasia - microcephaly

5 cases

1606

1p36 deletion syndrome

931

Acheiropodia

< 10 families

932

Achondrogenesis

2.8**

15

Achondroplasia

2.6**

49382

Achromatopsia

2.7

2561

Ackerman syndrome

8 cases

79086

Acquired generalized lipodystrophy

> 100 cases

73274

Acquired hemophilia

2221

Acquired hypertrichosis lanuginosa

60 cases

99147

Acquired Von Willebrand syndrome

300 cases

36

Acrocallosal syndrome

34 cases

2008

Acro-cardio-facial syndrome

9 cases

949

Acrocraniofacial dysostosis

2 cases

37

Acrodermatitis enteropathica

1786

Acrofacial dysostosis, Catania type

6 cases

64542

Acrofacial dysostosis, Kennedy-Teebi type

2 cases

1787

Acrofacial dysostosis, Palagonia type

4 cases

1788

Acrofacial dysostosis, Rodríguez type

< 10 cases

1784

Acro-fronto-facio-nasal dysostosis

5 cases

965

Acromegaloid facial appearance syndrome

963

Acromegaly

964

Acromegaly - cutis verticis gyrata - corneal leukoma

16 cases

ORPHA Disease or group of diseases Number 94063

12q14 microdeletion syndrome

15**

268261 21q22.13q22.2 microdeletion syndrome 567 79157

22q11.2 deletion syndrome

12 cases 5.6**

2-methylbutyryl-CoA dehydrogenase deficiency

< 30 cases

163693 2p21 microdeletion syndrome 1617

7 cases

2q24 microdeletion syndrome

23 cases

251019 2q32q33 microdeletion syndrome

< 25 cases

1001

2q37 microdeletion syndrome

10 cases

7

3C syndrome

25 cases

35701

3-hydroxy-3-methylglutaryl-CoA synthase deficiency

9 cases

2616

3M syndrome

40 cases

67046

3-methylglutaconic aciduria type 1

20 cases

2975

46,XX disorder of sex development - skeletal anomalies

2 cases

2138

46,XX ovotesticular disorder of sex development

> 500 cases

168558 46,XY disorder of sex development - adrenal insufficiency due to CYP11A1 deficiency

9 cases

752

46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency

0.68

168563 46,XY gonadal dysgenesis - motor and sensory neuropathy

6 cases

0.2

< 20 cases 6

10

48,XXYY syndrome

22

4-hydroxybutyric aciduria

450 cases

33572

5-oxoprolinase deficiency

8 cases

39

Acromelanosis

< 10 cases

19 cases

953

Acromesomelic dysplasia, Brahimi-Bacha type

3 cases

7 cases

968

Acromesomelic dysplasia, Hunter-Thomson type

10 cases

40

Acromesomelic dysplasia, Maroteaux type

50 cases

969

Acromicric dysplasia

< 40 cases

955

Acroosteolysis dominant type

50 cases

85203

Acro-pectoral syndrome

22 cases

956

Acro-pectoro-renal dysplasia

12 cases

957

Acropectorovertebral dysplasia

< 30 cases

971

Acrorenal syndrome

20 cases

958

Acro-renal-mandibular syndrome

7 cases

959

Acro-renal-ocular syndrome

< 20 families

75857

1.9**

0.1

6q terminal deletion syndrome

171829 6q16 deletion syndrome 178303 8q22.1 microdeletion syndrome

4 cases

915

Aarskog-Scott syndrome

916

Aase-Smith syndrome

< 10 cases

920

Ablepharon macrostomia syndrome

15 cases

921

Abruzzo-Erickson syndrome

4 cases

1658

Absence of fingerprints - congenital milia

14 cases

2951

Absent thumb - short stature immunodeficiency

3 cases

67043

Acanthamoeba keratitis

90301

Acanthosis nigricans - Insulin resistance muscle cramps - acral enlargement

* Lifetime prevalence

0.4**

1 5 cases

** Prevalence at birth

Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - May 2014 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf

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Prevalence of rare diseases: Bibliographic data - Listed in alphabetical order of disease or group of diseases

Number of Estimated published prevalence cases or (/100,000) families

ORPHA Disease or group of diseases Number 163696 Action myoclonus - renal failure syndrome

ORPHA Disease or group of diseases Number

Number of Estimated published prevalence cases or (/100,000) families

17 cases

56

Alkaptonuria

0.5

5 cases

69736

Acute bilateral depigmentation of the iris

59

Allan-Herndon-Dudley syndrome

89 cases

98916

Acute inflammatory demyelinating polyradiculoneuropathy

3.1

1005

Alopecia - contractures - dwarfism intellectual disability

5 cases

79276

Acute intermittent porphyria

0.54

1008

Acute interstitial pneumonia

3.8

Alopecia - epilepsy - pyorrhea - intellectual disability

12 cases

79126 90062

Acute liver failure

23

700

Alopecia totalis

10.5

701

Alopecia universalis

25

726

Alpers syndrome

0.7**

60

Alpha-1-antitrypsin deficiency

25

61

Alpha-mannosidosis

0.2**

3137

Alpha-N-acetylgalactosaminidase deficiency

< 20 cases

847

Alpha-thalassemia - X-linked intellectual disability syndrome

> 200 cases

63

Alport syndrome

2

2131

Alternating hemiplegia of childhood

0.9**

284

Alveolar echinococcosis

< 1000 cases

1021

Amaurosis - hypertrichosis

2 cases

1946

Amelo-cerebro-hypohidrotic syndrome

39 cases

98918

Acute motor axonal neuropathy

0.1

98917

Acute motor-sensory axonal neuropathy

0.1

519

Acute myeloid leukemia

11*

55881

Adamantinoma

0.11*

2952

Adducted thumbs - arthrogryposis, Christian type

3 families

45

Adenosine monophosphate deaminase deficiency

> 100 cases

46

Adenylosuccinate lyase deficiency

50 cases

1501

Adrenocortical carcinoma

2666

1

Adult familial nephronophthisis - spastic quadriparesia

2 cases

178487 Adult intestinal botulism 829

19 cases

Adult Still's disease

978

1.25

ADULT syndrome

14 cases

209335 Adult-onset proximal spinal muscular atrophy, autosomal dominant

0.1

83617

Agammaglobulinemia - microcephaly craniosynostosis - severe dermatitis

3 cases

52055

Agenesis of the corpus callosum - intellectual disability - coloboma - micrognathia

2 cases

98850

Aggressive systemic mastocytosis

990

Agnathia - holoprosencephaly - situs inversus

50

Aicardi syndrome

51

Aicardi-Goutières syndrome

52

Alagille syndrome

0.2 30 cases 1** 0.4** >5 families

2007

Alar cartilages hypoplasia - coloboma telecanthus

53

Albers-Schönberg osteopetrosis

998

Albinism-deafness syndrome

1 family

35664

ALDH18A1-related De Barsy syndrome

32 cases

58

Alexander disease

300 cases

79324

ALG12-CDG

11 cases

79327

ALG1-CDG

15 cases

79326

ALG2-CDG

1 case

79321

ALG3-CDG

10 cases

79320

ALG6-CDG

58 cases

79325

ALG8-CDG

8 cases

79328

ALG9-CDG

3 cases

139477 Al-Gazali-Dattani syndrome

1908

Aminopterin/methotrexate embryofetopathy

1034

Amniotic bands

4**

69

Amyloidosis

30

803

Amyotrophic lateral sclerosis

5.2

17 cases

228113 Anal fistula

23

98841

Anaplastic large cell lymphoma

2

142

Anaplastic thyroid carcinoma

0.1

2 cases 5

3 cases

5 cases

72

Angelman syndrome

63442

Angel-shaped phalango-epiphyseal dysplasia

2346

Angio-osteohypertrophic syndrome

69088

Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis lymphedema

2 cases

1069

Aniridia - absent patella

3 cases

1065

Aniridia - cerebellar ataxia - intellectual disability

> 10 families

1067

Aniridia - ptosis - intellectual disability familial obesity

3 cases

1064

Aniridia - renal agenesis - psychomotor retardation

2 cases

1068

Aniridia-intellectual disability syndrome

1070

Anisakiasis

1.1

1074

Ankyloblepharon filiforme - imperforate anus

2 families

2206

Ankylosing vertebral hyperostosis with tylosis

8 cases

675

Annular pancreas

1094

Anonychia - microcephaly

15 cases 0.8**

2 cases 3.8

* Lifetime prevalence

4

4 cases

157954 ANE syndrome 120 cases

178333 Åland Islands eye disease

171836 Amelogenesis imperfecta and gingival hyperplasia syndrome

1.8** 5 cases ** Prevalence at birth

Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - May 2014 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf

Prevalence of rare diseases: Bibliographic data - Listed in alphabetical order of disease or group of diseases

Number of Estimated published prevalence cases or (/100,000) families

ORPHA Disease or group of diseases Number

ORPHA Disease or group of diseases Number

Number of Estimated published prevalence cases or (/100,000) families

69125

Anonychia with flexural pigmentation

3 cases

85175

Astley-Kendall dysplasia

91129

Anophthalmia - heart and pulmonary anomalies - intellectual disability

2 cases

94

Astrocytoma

1188

Ataxia-deafness-retardation syndrome

Anophthalmia - hypothalamo-pituitary insufficiency

30 cases

100

Ataxia-telangiectasia

1101

Anophthalmia - megalocornea - cardiopathy skeletal anomalies

3 cases

1190

Atelosteogenesis type I

12 cases

56304

Atelosteogenesis type II

25 cases

1104

Anophthalmia plus syndrome

4 cases

56305

Atelosteogenesis type III

77298

Anophthalmia/microphthalmia - esophageal atresia

30 cases

< 25 cases

69739

Athabaskan brainstem dysgenesis syndrome

10 cases

1192

Atherosclerosis - deafness - diabetes - epilepsy - nephropathy

2 cases

95713

Athyreosis

1193

Atkin-Flaitz syndrome

1102

2987

Antecubital pterygium syndrome

11 cases

83

Antley-Bixler syndrome

34 cases

63269

Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis

< 50 cases 4 cases

5 cases 2.5 8 cases 1

3.5 14 cases

163934 Atopic keratoconjunctivitis

15

1201

Atresia of small intestine

16

1479

Atrial septal defect - atrioventricular conduction defects

11 cases

844

Atrial tachyarrhythmia with short PR interval

12 cases

1456

Atypical coarctation of aorta

0.17**

2134

Atypical hemolytic uremic syndrome

1

3095

Atypical Rett syndrome

2.22

77300

Auricular abnormalities - cleft lip with or without cleft palate - ocular abnormalities

2 cases

1110

Aortic arch anomaly - peculiar facies intellectual disability

2299

Aortic arch interruption

88636

Aortic dilatation - joint hypermobility arterial tortuosity

22 cases

3400

Aorto-ventricular tunnel

130 cases

87

Apert syndrome

1112

Aphalangy - hemivertebrae - urogenitalintestinal dysgenesis

3 cases

1113

Aphalangy - syndactyly - microcephaly

1 family

1117

Aplasia cutis - myopia

4 cases

71270

Auriculoocular anomalies - cleft lip

2 cases

1116

Aplasia cutis congenita - intestinal lymphangiectasia

3 cases

114

Auriculoosteodysplasia

2 families

0.3**

1.25

8.5

137911 Autism - facial port-wine stain

4 cases

3261

Autoimmune lymphoproliferative syndrome

> 500 cases

99

Autosomal dominant cerebellar ataxia

99940

Autosomal dominant Charcot-Marie-Tooth disease type 2F

1 family

99941

Autosomal dominant Charcot-Marie-Tooth disease type 2G

1 family

99944

Autosomal dominant Charcot-Marie-Tooth disease type 2K

3 families

99945

Autosomal dominant Charcot-Marie-Tooth disease type 2L

1 family

73229

Autosomal dominant familial hematuria retinal arteriolar tortuosity - contractures

8 cases

1810

Autosomal dominant hypohidrotic ectodermal dysplasia

40 cases

99981

Apnea of prematurity

1129

Arachnodactyly - abnormal ossification intellectual disability

5 cases

1130

Arachnodactyly - intellectual disability dysmorphism

3 cases

1133

AREDYLD syndrome

3 cases

35704

Arginine:glycine amidinotransferase deficiency

9 cases

23

Argininosuccinic aciduria

91

Aromatase deficiency

13 cases

1134

Arrhinia

20 cases

1135

Arrhinia - choanal atresia - microphthalmia

4 cases

247

Arrhythmogenic right ventricular dysplasia

1682

Arterial dissection - lentiginosis

4 cases

3342

Arterial tortuosity syndrome

< 80 cases

1485

Arthrogryposis - hyperkeratosis, lethal form

2 cases

89937

2697

Arthrogryposis - renal dysfunction cholestasis

< 100 cases

Autosomal dominant hypophosphatemic rickets

< 100 cases

93114

Autosomal dominant intermediate CharcotMarie-Tooth disease type E

10 cases

503

Autosomal dominant Larsen syndrome

266

Autosomal dominant limb-girdle muscular dystrophy type 1A

264

Autosomal dominant limb-girdle muscular dystrophy type 1B

0.45

43.5

1037

Arthrogryposis multiplex congenita

1150

Arthrogryposis multiplex congenita - whistling face

10 cases

1144

Arthrogryposis-like hand anomaly sensorineural deafness

1 family

1253

Ascher syndrome

50 cases

* Lifetime prevalence

5.7**

3

0.4** 2 families 0.2

** Prevalence at birth

Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - May 2014 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf

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Prevalence of rare diseases: Bibliographic data - Listed in alphabetical order of disease or group of diseases

Number of Estimated published prevalence cases or (/100,000) families

ORPHA Disease or group of diseases Number

ORPHA Disease or group of diseases Number

Number of Estimated published prevalence cases or (/100,000) families

34516

Autosomal dominant limb-girdle muscular dystrophy type 1D

5 families

119

Autosomal recessive limb-girdle muscular dystrophy type 2E

0,1

34517

Autosomal dominant limb-girdle muscular dystrophy type 1E

5 families

219

Autosomal recessive limb-girdle muscular dystrophy type 2F

0.3

55595

Autosomal dominant limb-girdle muscular dystrophy type 1F

1 family

34514

Autosomal recessive limb-girdle muscular dystrophy type 2G

55596

Autosomal dominant limb-girdle muscular dystrophy type 1G

1 family

34515

Autosomal recessive limb-girdle muscular dystrophy type 2I

65743

Autosomal dominant multiple pterygium syndrome

4 cases

206549 Autosomal recessive limb-girdle muscular dystrophy type 2L

14 cases

67036

Autosomal dominant optic atrophy and cataract

14 cases

206554 Autosomal recessive limb-girdle muscular dystrophy type 2M

3 cases

2783

Autosomal dominant osteopetrosis type 1

33 cases

5 cases

1010

Autosomal dominant palmoplantar keratoderma and congenital alopecia

10 cases

206580 Autosomal recessive lower motor neuron disease with childhood onset

Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis

30 cases

Autosomal dominant primary hypomagnesemia with hypocalciuria

3 families

88924 34528

209867 Autosomal dominant rhegmatogenous retinal detachment

38 cases

3107

100 cases

Autosomal dominant Robinow syndrome

667

Autosomal recessive malignant osteopetrosis

93329

Autosomal recessive omodysplasia

731

Autosomal recessive polycystic kidney disease

1507

Autosomal recessive Robinow syndrome

14 cases 1

0.75** 23 cases 1.2 < 100 cases

100995 Autosomal recessive spastic paraplegia type 14

1 family

100996 Autosomal recessive spastic paraplegia type 15

< 10 families

209951 Autosomal recessive spastic paraplegia type 18

9 cases

101003 Autosomal recessive spastic paraplegia type 23

1 family

101004 Autosomal recessive spastic paraplegia type 24

1 family

100991 Autosomal dominant spastic paraplegia type 10

< 10 families

100993 Autosomal dominant spastic paraplegia type 12

< 10 families

100994 Autosomal dominant spastic paraplegia type 13

< 10 families

101005 Autosomal recessive spastic paraplegia type 25

1 family

101006 Autosomal recessive spastic paraplegia type 26

2 families

100998 Autosomal dominant spastic paraplegia type 17

< 20 families

101007 Autosomal recessive spastic paraplegia type 27

2 families

101009 Autosomal dominant spastic paraplegia type 29

1 family

101008 Autosomal recessive spastic paraplegia type 28

6 cases

101010 Autosomal recessive spastic paraplegia type 30

1 family

171622 Autosomal recessive spastic paraplegia type 32

1 family

171629 Autosomal recessive spastic paraplegia type 35

1 family

139480 Autosomal recessive spastic paraplegia type 39

2 families

171612 Autosomal dominant spastic paraplegia type 37

13 cases

171617 Autosomal dominant spastic paraplegia type 38

1 family

100988 Autosomal dominant spastic paraplegia type 6

10 families

100989 Autosomal dominant spastic paraplegia type 8

< 10 families

79332

B4GALT1-CDG

36234

Bacterial toxic-shock syndrome

100990 Autosomal dominant spastic paraplegia type 9

1 family

93395

Ballard syndrome

12 cases

1027

Autosomal recessive amelia

3 cases

1226

Bamforth syndrome

5 cases

88644

Autosomal recessive ataxia, Beauce type

57 cases

1227

Bangstad syndrome

2 cases

1172

Autosomal recessive cerebellar ataxia

1228

Banki syndrome

1 family

95433

Autosomal recessive cerebellar ataxia blindness - deafness

3 families

2995

Baraitser-Winter syndrome

30 cases

Autosomal recessive cerebellar ataxia saccadic intrusion

1 family

1231

Barber-Say syndrome

10 cases

110

Bardet-Biedl syndrome

0.7

111

Barth syndrome

0.22

1234

Bartsocas-Papas syndrome

95434

7

267

Autosomal recessive limb girdle muscular dystrophy type 2A

1

268

Autosomal recessive limb-girdle muscular dystrophy type 2B

0.13

353

Autosomal recessive limb-girdle muscular dystrophy type 2C

0,2

782

Axenfeld-Rieger syndrome

3 cases 1 case 3

24 cases

166113 Bazex syndrome 113

Bazex-Dupré-Christol syndrome

67038

B-cell chronic lymphocytic leukemia * Lifetime prevalence

6

0.5

168549 Axial spondylometaphyseal dysplasia

145 cases 143 cases 27 ** Prevalence at birth

Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - May 2014 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf

Prevalence of rare diseases: Bibliographic data - Listed in alphabetical order of disease or group of diseases

ORPHA Disease or group of diseases Number

Number of Estimated published prevalence cases or (/100,000) families

ORPHA Disease or group of diseases Number

Number of Estimated published prevalence cases or (/100,000) families

116

Beckwith-Wiedemann syndrome

2.3**

1267

Botulism

0.05

1237

Beemer-Ertbruggen syndrome

83313

Boutonneuse fever

17

117

Behçet disease

1276

Brachydactyly - arterial hypertension

1241

Bencze syndrome

2 families

> 10 families

71269

Benign exophthalmos syndrome

4 cases

2946

Brachydactyly - long thumb

4 cases

1246

Brachydactyly - nystagmus - cerebellar ataxia

1 family

1278

Brachydactyly - preaxial hallux varus

8 cases

93389

Brachydactyly type A5

2 families

93382

Brachydactyly type A6

7 cases

1292

Brachymorphism - onychodysplasia dysphalangism

9 cases

1295

Brachytelephalangy - dysmorphism - Kallmann syndrome

2 cases

52047

Braddock syndrome

2 cases

75374

Bradyopsia

5 cases

2 cases 4

140927 Benign familial neonatal-infantile seizures

10 families

209973 Benign familial nocturnal alternating hemiplegia of childhood

< 10 cases

71518

Benign paroxysmal torticollis of infancy

50 cases

528

Berardinelli-Seip congenital lipodystrophy

274

Bernard-Soulier syndrome

118

Beta-mannosidosis

0.14**

848

Beta-thalassemia

0.5

65287

Beta-ureidopropionase deficiency

610

0.25 100 cases

Bethlem myopathy

5 cases 0.77

140963 Bilateral microtia - deafness - cleft palate

4 cases

1848

Bilateral renal agenesis

1980

Bilateral striopallidodentate calcinosis

30391

Biliary atresia

2.9**

122

Birt-Hogg-Dubé syndrome

0.5

123

Björnstad syndrome

124

Blackfan-Diamond anemia

0.67**

93930

Bladder exstrophy

2.8

73271

Bleeding diathesis due to a collagen receptor defect

< 20 cases

1997

Blepharo-cheilo-odontic syndrome

> 50 cases

1251

Blepharofacioskeletal syndrome

2 cases

1252

Blepharonasofacial malformation syndrome

2 families

2057

Blepharophimosis - ptosis - esotropia syndactyly - short stature

6 cases

3047

Blepharophimosis-intellectual disability syndrome, SBBYS type

< 20 cases

Blepharoptosis - myopia - ectopia lentis

1259

2** < 200 cases

125

Bloom syndrome

16

Blue cone monochromatism

1059

Blue rubber bleb nevus

91135

168598 Brain demyelination due to methionine adenosyltransferase deficiency

2 cases

75389

Brain malformation - congenital heart disease - postaxial polydactyly

2 cases

36414

Brain stem tumor

3.5 < 20 cases

50815

Branchiogenic deafness syndrome

5 cases

1297

Branchio-oculo-facial syndrome

< 50 cases

1299

Branchio-skeleto-genital syndrome

3 cases

85284

BRESEK syndrome

2 cases

70589

Bronchopulmonary dysplasia

2771

Bruck syndrome

130

Brugada syndrome

20

131

Budd-Chiari syndrome

1.5

36258

Buerger disease

16

1867

Bullous dystrophy, macular type

703

Bullous pemphigoid

3 cases

46489

Bullous systemic lupus erythematosus

4 cases

1306

Buschke-Ollendorff syndrome

265 cases

85293

Cabezas syndrome

1 family

135

CACH syndrome

148 cases

136

CADASIL

1 > 200 cases

Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency

6 cases

97297

Bohring-Opitz syndrome

< 20 cases

1842

Bone dysplasia, lethal Holmgren type

4 cases

1261

Bonnemann-Meinecke-Reich syndrome

4 cases

1262

Böök syndrome

26 cases

1263

Boomerang dysplasia

10 cases

69737

Bosley-Salih-Alorainy syndrome

9 cases

* Lifetime prevalence

8 cases

209905 Brain-lung-thyroid syndrome 33 cases

171844 Blindness - scoliosis - arachnodactyly

178506 Brain calcification, Rajab type

280062 Calciphylaxis

13 < 40 cases

2 families 2.5 70 cases 5

3 5

85192

Calvarial doughnut lesions - bone fragility

20 cases

83472

CAMOS syndrome

5 cases

1318

Campomelia, Cumming type

140

Campomelic dysplasia

1319

Camptobrachydactyly

1 family

1321

Camptodactyly - fibrous tissue hyperplasia skeletal dysplasia

3 cases

8 cases 0.33**

** Prevalence at birth

Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - May 2014 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf

7

Prevalence of rare diseases: Bibliographic data - Listed in alphabetical order of disease or group of diseases

Number of Estimated published prevalence cases or (/100,000) families

ORPHA Disease or group of diseases Number

ORPHA Disease or group of diseases Number

Number of Estimated published prevalence cases or (/100,000) families

85164

Camptodactyly - tall stature - scoliosis hearing loss

30 cases

1459

Celiac disease, epilepsy and cerebral calcification syndrome

170 cases

1325

Camptodactyly - taurinuria

4 families

3258

Cenani-Lenz syndrome

1327

Camptodactyly syndrome, Guadalajara type 1

8 cases

< 30 cases

1326

Camptodactyly syndrome, Guadalajara type 2

2 cases

75377

Central areolar choroidal dystrophy

2431

Central bilateral macrogyria

597

Central core disease

3240

Central nervous system calcification - deafness - tubular acidosis - anemia

2 cases

73256

Central neurocytoma

> 100 cases

1171

Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss

2 families

46724

Cerebral arteriovenous malformation

2081

Cerebral gigantism - jaw cysts

< 10 cases

1393

Cerebro-costo-mandibular syndrome

75 cases

66625

Cerebro-oculo-nasal syndrome

10 cases

3421

Cerebroretinal vasculopathy

3 families

909

Cerebrotendinous xanthomatosis

2218

Cervical hypertrichosis - peripheral neuropathy

3 cases

1401

CHAND syndrome

> 10 cases

88642

Channelopathy-associated congenital insensitivity to pain

20 cases

46627

Char syndrome

166

Charcot-Marie-Tooth disease

2848

Camptodactyly-arthropathy-coxa-varapericarditis syndrome

< 30 families

1328

Camurati-Engelmann disease

> 300 cases

1335

Cantrell pentalogy

0.55**

171881 Cap myopathy

< 10 cases

160148 Cap polyposis

20 cases

147

Carbamoylphosphate synthetase deficiency

0.03

137628 Cardiac anomalies - heterotaxy

9 cases

2872

Cardiocranial syndrome, Pfeiffer type

< 10 cases

1340

Cardiofaciocutaneous syndrome

250 cases

1345

Cardiomyopathy - cataract - hip spine disease

9 cases

91130

Cardiomyopathy - hypotonia - lactic acidosis

2 cases

90022

Cardiomyopathy - renal anomalies

2 cases

3238

Cardiospondylocarpofacial syndrome

3 cases

1358

Carey-Fineman-Ziter syndrome

< 20 cases

2998

Carnevale syndrome

2 cases

1359

Carney complex

160 cases

139411 Carney triad

150 cases

157

Carnitine palmitoyl transferase II deficiency

> 300 cases

159

Carnitine-acylcarnitine translocase deficiency

40 cases

1361

Carnosinemia

30 cases

53035

Caroli disease

< 250 cases

65759

Carpenter syndrome

> 70 cases

93973

Carpenter-Waziri syndrome

6 cases

2767

Carpotarsal osteochondromatosis

< 10 cases

1368

Cataract - ataxia - deafness

2 cases

1383

Cataract - deafness - hypogonadism

3 cases

1387

Cataract - intellectual disability hypogonadism

< 20 cases

1380

Cataract - nephropathy - encephalopathy

2 cases

162

Cataract-glaucoma

3 families

1377

Cataract-microcornea syndrome

8 families

717

Catecholamine-producing tumor

10

3286

Catecholaminergic polymorphic ventricular tachycardia

10

1388

Catel-Manzke syndrome

> 33 cases

195

Cat-eye syndrome

1.35

50839

Cat-scratch disease

6.6

66631

CEDNIK syndrome

7 cases

4 cases 0.4

6

2

10 cases 22

101101 Charcot-Marie-Tooth disease type 2B2

1 family

101102 Charcot-Marie-Tooth disease type 2H

13 cases

99955

Charcot-Marie-Tooth disease type 4B1

11 families

99954

Charcot-Marie-Tooth disease type 4H

10 cases

139515 Charcot-Marie-Tooth disease type 4J

5 cases

167

Chédiak-Higashi syndrome

200 cases

139

CHILD syndrome

60 cases

209908 Childhood apraxia of speech 168782 Childhood disintegrative disorder 3474

22 cases 2

CHIME syndrome

137914 Choanal atresia

8 cases 8.6**

1200

Choanal atresia - deafness - cardiac defects dysmorphism

70567

Cholangiocarcinoma

1414

Cholestasis - lymphedema

50 cases

1415

Cholestasis - pigmentary retinopathy - cleft palate

5 cases

1422

Chondrodysplasia - disorder of sex development

2 cases

50945

Chondrodysplasia, Blomstrand type

55880

Chondrosarcoma

3.55

178

Chordoma

0.05

1433

Choroidal atrophy - alopecia

* Lifetime prevalence

8

3.33

5 cases 2.1

13 cases

2 cases

** Prevalence at birth

Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - May 2014 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf

Prevalence of rare diseases: Bibliographic data - Listed in alphabetical order of disease or group of diseases

ORPHA Disease or group of diseases Number

Number of Estimated published prevalence cases or (/100,000) families

ORPHA Disease or group of diseases Number

Number of Estimated published prevalence cases or (/100,000) families

180

Choroideremia

1.5

1572

Common variable immunodeficiency

4

1435

Choroideremia - deafness - obesity

4 cases

1329

Complete atrioventricular canal

20**

85278

Christianson syndrome

< 30 cases

209932 Cone dystrophy with supernormal rod response

2137

Chronic autoimmune hepatitis

0.75

379

Chronic granulomatous disease

0.4**

396

Chronic hiccup

2932

Chronic inflammatory demyelinating polyneuropathy

521 70591

45 cases

1872

Cone rod dystrophy

973

Congenital absence/hypoplasia of fingers excluding thumb, unilateral

2.5

1

418

Congenital adrenal hyperplasia

3.7

210122 Congenital alveolar capillary dysplasia

< 60 cases

Chronic myeloid leukemia

6

86816

Congenital analbuminemia

Chronic thromboembolic pulmonary hypertension

3

< 50 cases

1195

Congenital atransferrinemia

12 cases

< 10 cases 10

93971

Chudley-Lowry-Hoar syndrome

3 cases

48

Congenital bilateral absence of vas deferens

1451

CINCA syndrome

100 cases

79302

Congenital bile acid synthesis defect type 3

2 cases

69744

Circumscribed palmoplantar hypokeratosis

17 cases

79095

Congenital bile acid synthesis defect type 4

5 cases

187

Citrullinemia

71278

Congenital brain dysgenesis due to glutamine synthetase deficiency

2 cases

2040

Congenital bronchobiliary fistula

23 cases

1369

Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy

40 cases

48431

Congenital cataracts - facial dysmorphism neuropathy

160 cases

2140

Congenital diaphragmatic hernia

21.2**

137

Congenital disorder of glycosylation

1.5**

85

Congenital dyserythropoietic anemia

1

14.4

168984 CLAPO syndrome

6 cases

394

Classical homocystinuria

1.65

1995

Cleft lip - retinopathy

2 cases

2001

Cleft lip/palate - intestinal malrotation cardiopathy

4 cases

2015

Cleft palate - short stature - vertebral anomalies

2 cases

2010

Cleft palate - stapes fixation - oligodontia

2 cases

2016

Cleft palate-lateral synechia syndrome

7 cases

1453

Cleidorhizomelic syndrome

2 cases

93929

Cloacal exstrophy

53721

Cobb syndrome

51577

Cobblestone lissencephaly

191

Cockayne syndrome

1458

CODAS syndrome

192

Coffin-Lowry syndrome

1465

Coffin-Siris syndrome

1466

0.75 35 cases 1**

79277

Congenital erythropoietic porphyria

> 200 cases

Congenital factor II deficiency

0.05

326

Congenital factor V deficiency

0.1

3 cases

327

Congenital factor VII deficiency

0.33

328

Congenital factor X deficiency

0.2

< 100 cases

329

Congenital factor XI deficiency

0.1

< 20 cases

331

Congenital factor XIII deficiency

0.05

335

Congenital fibrinogen deficiency

0.15

1023

Congenital generalized hypertrichosis, Ambras type

COG7-CDG

9 cases

95428

COG8-CDG

2 cases

1467

Cogan syndrome

200 cases

193

Cohen syndrome

200 cases

31824

Colchicine poisoning

0.1

157820 Cold-induced sweating syndrome

6 cases

2050

Cole-Carpenter syndrome

4 cases

36205

Collagenous colitis

1471

Coloboma of macula - brachydactyly type B

12 cases

1474

Colobomatous - microphthalmia - heart disease - hearing loss

10 cases

35909

Combined deficiency of factor V and factor VIII

* Lifetime prevalence

3 cases

325

79333

10.5

0.5

103910 Congenital enterocyte heparan sulfate deficiency

200 cases 1.5

COFS syndrome

50

40 cases

174590 Congenital hypogonadotropic hypogonadism

20

442

Congenital hypothyroidism

29

95711

Congenital hypothyroidism due to developmental anomaly

21.3

95715

Congenital hypothyroidism due to transplacental passage of maternal TSHbinding inhibitory antibodies

1

2271

Congenital ichthyosis - microcephalus tetraplegia

2 cases

1229

Congenital intrauterine infection-like syndrome

> 30 cases

657

Congenital isolated hyperinsulinism

20

** Prevalence at birth

Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - May 2014 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf

9

Prevalence of rare diseases: Bibliographic data - Listed in alphabetical order of disease or group of diseases

Number of Estimated published prevalence cases or (/100,000) families

ORPHA Disease or group of diseases Number

209893 Congenital isolated thyroxine-binding globulin 46 deficiency 1954

Congenital lethal erythroderma

17 cases

210163 Congenital lethal myopathy, Compton-North type

4 cases

83620

Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells

3 cases

93109

Congenital megacalycosis

> 50 cases

97242

Congenital muscular dystrophy

5

157973 Congenital muscular dystrophy due to LMNA mutation

15 cases

258

Congenital muscular dystrophy type 1A

0.3

34520

Congenital muscular dystrophy with integrin alpha-7 deficiency

0.03

75840

Congenital muscular dystrophy, Ullrich type

0.13

590

Congenital myasthenic syndromes

0.3

97245

Congenital myopathy

3.8

2772

Congenital osteogenesis imperfecta microcephaly - cataracts

3 cases

66630

Congenital pseudoarthrosis of clavicle

> 200 cases

2414

Congenital pulmonary lymphangiectasia

> 100 cases

3189

Congenital pulmonary valve stenosis

ORPHA Disease or group of diseases Number

Number of Estimated published prevalence cases or (/100,000) families

1509

Coxo-podo-patellar syndrome

47 cases

1513

Craniodiaphyseal dysplasia

< 20 cases

1514

Craniodigital syndrome - intellectual disability

5 cases

1515

Cranioectodermal dysplasia

15 cases

85168

Craniofacial conodysplasia

1 family

1529

Craniofacial-deafness-hand syndrome

3 cases

1521

Craniofrontonasal dysplasia - Poland anomaly

3 cases

50814

Craniolenticulosutural dysplasia

28 cases

1522

Craniometaphyseal dysplasia

70 cases

1525

Cranio-osteoarthropathy

54595

Craniopharyngioma

2

63260

Craniorachischisis

5

30 cases

157832 Craniorhiny

3 families

1538

Craniosynostosis - Dandy-Walker malformation - hydrocephalus

4 cases

1535

Craniosynostosis - dysmorphism brachydactyly

5 cases

1533

Craniosynostosis - fibular aplasia

2 cases

171839 Craniosynostosis - hydrocephalus - Chiari I malformation - radioulnar synostosis

4 cases

52054

Craniosynostosis - intracranial calcifications

3 cases

1541

Craniosynostosis, Boston type

19 cases

28.4**

1527

Craniosynostosis, Philadelphia type

1 family

Craniosynostosis-radial aplasia, Imaizumi type

2 cases

290

Congenital rubella syndrome

0.29**

1534

35122

Congenital sucrase-isomaltase deficiency

20

90290

CREST syndrome

8

33**

204

Creutzfeldt-Jakob disease

0.1

0.3**

205

Crigler-Najjar syndrome

0.1**

1545

Crisponi syndrome

1461

Criss-cross heart

858

Congenital toxoplasmosis

216694 Congenitally corrected transposition of the great arteries

< 30 cases

2391

Congenitally short costocoracoid ligament

1 family

1484

Contractures - ectodermal dysplasia - cleft lip/ palate

2 cases

2930

Cronkhite-Canada syndrome

1487

Cooks syndrome

11 cases

207

Crouzon disease

1488

Cooper-Jabs syndrome

2 cases

1547

1051

Corneal anesthesia - deafness - intellectual disability

2 cases

Cryptomicrotia - brachydactyly - excess fingertip arch

1549

Cryptosporidiosis

34

1490

Corneal dystrophy - perceptive deafness

< 10 cases

1552

Currarino triad

1

3177

Corneal-cerebellar syndrome

2 cases

1553

Curry-Jones syndrome

199

Cornelia de Lange syndrome

96253

Cushing disease

4

94062

Coronary artery disease - hyperlipidemia hypertension - diabetes - osteoporosis

1 family

553

Cushing syndrome

6.5

535

Cutaneous lupus erythematosus

50

1389

Cortical blindness - intellectual disability polydactyly

3 cases

66646

Cutaneous mastocytosis

0.75

79140

Cutaneous neuroendocrine carcinoma

4

1**

4

0.8** 500 cases 0.9 2 cases

9 cases

278

Corticobasal degeneration

2881

Cutaneous photosensitivity - lethal colitis

3 cases

54251

Corticosteroid-sensitive aseptic abscesses syndrome

49 cases

1555

Cutis gyrata - acanthosis nigricans craniosynostosis

6 cases

3071

Costello syndrome

300 cases

209

Cutis laxa

201

Cowden syndrome

1556

Cutis marmorata telangiectatica congenita

1508

Coxoauricular syndrome

1557

Cutis verticis gyrata - intellectual disability

0.45 4 cases

0.1**

* Lifetime prevalence

10

300 cases 1.02 ** Prevalence at birth

Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - May 2014 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf

Prevalence of rare diseases: Bibliographic data - Listed in alphabetical order of disease or group of diseases

ORPHA Disease or group of diseases Number

Number of Estimated published prevalence cases or (/100,000) families

ORPHA Disease or group of diseases Number

2686

Cyclic neutropenia

0.1

1425

Desbuquois syndrome

> 40 cases

2674

Cyprus facial-neuromusculoskeletal syndrome

35107

Desmosterolosis

2 cases

212

Cystathioninuria

7

586

Cystic fibrosis

12.6

2111

Cystic hamartoma of lung and kidney

< 5 cases

85136

Cystic leukoencephalopathy without megalencephaly

< 50 cases

1 family

213

Cystinosis

0.5**

214

Cystinuria

14

75381

Cystoid macular dystrophy

6 families

94087

Cytophagic histiocytic panniculitis

< 100 cases

137678 Czech dysplasia, metatarsal type

< 20 cases

1562

Dacryocystitis - osteopoikilosis

5 cases

1563

Dahlberg-Borer-Newcomer syndrome

2 cases

1566

Dandy-Walker malformation - postaxial polydactyly

2 cases

218

Darier disease

1831

De Hauwere syndrome

2 cases

3214

Deaf blind hypopigmentation syndrome, Yemenite type

2 cases

3220

Deafness - enamel hypoplasia - nail defects

6 cases

3224

Deafness - genital anomalies - metacarpal and metatarsal synostosis

2 cases

85321

Deafness - intellectual disability, Martin-Probst type

3 cases

3226

Deafness - lymphedema - leukemia

< 10 cases

3231

Deafness - onychodystrophy

< 50 cases

2

3239

Deafness - vitiligo - achalasia

2 cases

90024

Deafness with labyrinthine aplasia, microtia, and microdontia

6 families

94064

Deafness-infertility syndrome

3 families

1578

Dehydratase deficiency

21 cases

79134

DEND syndrome

14 cases

1652

Dent disease

250 families

101

Dentatorubral pallidoluysian atrophy

71267

Dentinogenesis imperfecta - short stature hearing loss - intellectual disability

220

Denys-Drash syndrome

1656

Dermatitis herpetiformis

2 cases 150 cases 27

1266

Dermato-cardio-skeletal syndrome, Borrone type

31112

Dermatofibrosarcoma protuberans

1659

Dermatoleukodystrophy

221

Dermatomyositis

1657

Dermatoosteolysis, Kirghizian type

1660

0.48

2 cases 10

Dermo-odonto dysplasia

* Lifetime prevalence

163988 Developmental delay - deafness, Hildebrand type

1 family

79107

Developmental malformations - deafness dystonia

2 cases

66637

Diaphanospondylodysostosis

< 10 cases

2141

Diaphragmatic defect - limb deficiency - skull defect

4 cases

628

Diastrophic dwarfism

5 cases 14 cases

1.2

220393 Diffuse cutaneous systemic sclerosis

4

544

Diffuse large B-cell lymphoma

20

2123

Diffuse neonatal hemangiomatosis

< 70 cases

86918

Diffuse palmoplantar keratodermaacrocyanosis syndrome

10 cases

1674

Digitorenocerebral syndrome

< 10 cases

1146

Digitotalar dysmorphism

226

Dihydropteridine reductase deficiency

> 150 cases

38874

Dihydropyrimidinuria

7 cases

1678

Dincsoy-Salih-Patel syndrome

2 cases

10

166291 Dirofilariasis

25 cases

79168

Disorder of bile acid synthesis

2983

Disorder of sex development - intellectual disability

3 cases

1307

Distal limb deficiencies - micrognathia syndrome

4 cases

96148

Distal monosomy 10q

40 cases

1627

Distal monosomy 5q

10 cases

96125

Distal monosomy 6p

> 35 cases

34521

Distal myopathy with early respiratory muscle involvement

24 cases

63273

Distal myopathy with posterior leg and anterior hand involvement

12 cases

600

Distal myopathy with vocal cord weakness

12 cases

3248

Distal symphalangism

100 cases

296

Enchondromatosis

85186

Endosteal sclerosis - cerebellar hypoplasia

1937

Eng-Strom syndrome

85438

Enthesitis-related arthritis

5.7

73247

Eosinophilic esophagitis

50

3165

Eosinophilic fasciitis

2070

Eosinophilic gastroenteritis

1

183

Eosinophilic granulomatosis with polyangiitis

1

301

Ependymal tumor

3.85

35125

Epidermal nevus syndrome

304

Epidermolysis bullosa simplex

257

Epidermolysis bullosa simplex with muscular dystrophy

> 40 cases

1948

Epilepsy - microcephaly - skeletal dysplasia

2 cases

1951

Epilepsy telangiectasia

6 cases

79135

Episodic ataxia type 3

1 family

79136

Episodic ataxia type 4

2 families

2 cases

178503 Dursun syndrome

2 cases

239

Dyggve-Melchior-Clausen disease

60 cases

1765

Dyschondrosteosis - nephritis

1 family

1775

Dyskeratosis congenita

2282

Dysmorphism - short stature - deafness disorder of sex development

0.1 2 cases

210571 Dystonia 16

7 cases

1934

Early infantile epileptic encephalopathy

88 cases

1935

Early myoclonic encephalopathy

1177

Early-onset cerebellar ataxia with retained tendon reflexes

1

256

Early-onset generalized limb-onset dystonia

0.4

2554

Ear-patella-short stature syndrome

1880

Ebstein malformation

1235

Ectodermal dysplasia - absent dermatoglyphs

< 30 cases

1806

Ectodermal dysplasia - blindness

2 cases

30 cases

42 cases 3.5**

1 4 cases 2 cases

200 cases

> 400 cases 2.4

211067 Episodic ataxia type 5

7 cases

209967 Episodic ataxia type 6

4 cases

209970 Episodic ataxia type 7

7 cases

103912 Epithelio-exfoliative colitis - deafness

2 cases

1816

Ectodermal dysplasia, Berlin type

4 cases

1884

Ectopia lentis - chorioretinal dystrophy myopia

4 cases

1888

Ectrodactyly - ectodermal dysplasia without clefting

5 cases

35687

Erdheim-Chester disease

> 500 cases

1897

EEM syndrome

7 families

999

Ermine phenotype

3 cases

98249

Ehlers-Danlos syndrome

0.5**

1955

Erythrokeratodermia - ataxia

25 cases

90309

Ehlers-Danlos syndrome type 1

5

317

Erythrokeratodermia variabilis

287

Ehlers-Danlos syndrome, classic type

3.5

> 200 cases

1901

Ehlers-Danlos syndrome, dermatosparaxis type

7 cases

79278

Erythropoietic protoporphyria

0.9

75501

Ehlers-Danlos syndrome, fibronectinemic type

1 family

1199

Esophageal atresia

24.3

70482

Esophageal carcinoma

12.2*

3318

Essential thrombocythemia

24

1957

Esthesioneuroblastoma

1200 cases

51188

Ethylmalonic encephalopathy

< 40 cases

1959

Evans syndrome

0.1

319

Ewing sarcoma

2.33

285

Ehlers-Danlos syndrome, hypermobility type

12.5

1900

Ehlers-Danlos syndrome, kyphoscoliotic type

1**

2953

Ehlers-Danlos syndrome, musculocontractural type

22 cases

157965 Ehlers-Danlos syndrome, spondylocheirodysplastic type 286

Ehlers-Danlos syndrome, vascular type

1902

Ehrlichiosis

79106

Eiken syndrome

289

Ellis Van Creveld syndrome

6 cases 1 < 50 cases 6 cases 0.3**

261

Emery-Dreifuss muscular dystrophy

0.3

2396

Encephalocraniocutaneous lipomatosis

45 cases

71277

Encephalopathy due to GLUT1 deficiency

84 cases

79155

Encephalopathy due to hydroxykynureninuria

< 30 cases

209916 Extraskeletal myxoid chondrosarcoma 3172

Eyebrow duplication - syndactyly

324

Fabry disease

1970

Facial dysmorphism - macrocephaly - myopia Dandy-Walker malformation

85162

Facial onset sensory and motor neuronopathy

269

Facioscapulohumeral dystrophy

3 cases 0.22**

* Lifetime prevalence

12

0.2

3 cases 4 cases 4 ** Prevalence at birth

Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - May 2014 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf

Prevalence of rare diseases: Bibliographic data - Listed in alphabetical order of disease or group of diseases

Number of Estimated published prevalence cases or (/100,000) families

ORPHA Disease or group of diseases Number 88619

Familial acute necrotizing encephalopathy

733

Familial adenomatous polyposis

1768

Familial caudal dysgenesis

11 cases

Familial cold urticaria

1799

Familial developmental dysphasia

0.1 6 families

1764

Familial dysautonomia

550 cases

85110

Familial encephalopathy with neuroserpin inclusion bodies

>5 families

361

Familial glucocorticoid deficiency

50 cases

154

Familial isolated dilated cardiomyopathy

2238

Familial isolated hypoparathyroidism

2239

17.5 < 10 families

Familial isolated hypoparathyroidism due to agenesis of parathyroid gland

2 families

75249

Familial isolated restrictive cardiomyopathy

2.5

768

Familial long QT syndrome

40**

338

Familial multiple fibrofolliculoma

569

Familial or sporadic hemiplegic migraine

79083

Familial partial lipodystrophy associated with PPARG mutations

10 cases

79085

Familial partial lipodystrophy due to AKT2 mutations

1 family

2348

Familial partial lipodystrophy, Dunnigan type

300 cases

79084

Familial partial lipodystrophy, Köbberling type

< 20 cases

71290

Familial platelet syndrome with predisposition to acute myelogenous leukemia Familial primary hypomagnesemia with normocalcuria and normocalcemia

34527

7 cases 10

84

< 50 cases

1757

Fibular dimelia - diplopodia

93323

Fibular hemimelia

3255

Filippi syndrome

< 25 cases

1272

Fine-Lubinsky syndrome

5 cases

97232

Fingerprint body myopathy

< 20 cases

2044

Floating-Harbor syndrome

87 cases

2047

Flynn-Aird syndrome

10 cases

2092

Focal dermal hypoplasia

300 cases

79133

Focal facial dermal dysplasia type I

81 cases

48918

Focal myositis

1866

Focal, segmental or multifocal dystonia

11.7

545

Follicular lymphoma

36

3219

Fountain syndrome

2253

Foveal hypoplasia - presenile cataract

908

Fragile X syndrome

11 cases 2

115 cases

8 cases 11 cases 20

137834 Frank-Ter Haar syndrome

5 cases

347

Frasier syndrome

> 50 cases

2053

Freeman-Sheldon syndrome

100 cases

85335

Fried syndrome

1 family

< 20 families

95

Friedreich ataxia

1826

Frontometaphyseal dysplasia

2 cases

282

Frontotemporal dementia

3

348

Fructose-1,6-bisphosphatase deficiency

5**

2059

Fryns syndrome

7**

349

Fucosidosis

100 cases

4

2854

Fuhrmann syndrome

11 cases

0.3

24

Fumaric aciduria

< 100 cases

97295

Furlong syndrome

2 cases

11 cases 11 cases

Fanconi anemia

Fibular aplasia - ectrodactyly

Fraser syndrome

166282 Familial sick sinus syndrome Familial thyroid dyshormonogenesis

1118

2052

168624 Familial scaphocephaly syndrome, McGillivray type 95716

Number of Estimated published prevalence cases or (/100,000) families

6 4 cases

47045

ORPHA Disease or group of diseases Number

0.2**

2 < 30 cases

166105 FASTKD2-related infantile mitochondrial encephalomyopathy

2 cases

466

27 cases

352

Galactosemia

168566 Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3

2 cases

2065

Galloway-Mowat syndrome

40 cases

2066

Feingold syndrome

< 50 cases

Gamma-aminobutyric acid transaminase deficiency

2 cases

1305 2019

Femur-fibula-ulna complex

1.5

33573

Gamma-glutamyl transpeptidase deficiency

7 cases

994

Fetal akinesia deformation sequence

0.6**

33574

Gamma-glutamylcysteine synthetase deficiency

9 cases

1915

Fetal alcohol syndrome

1.6**

2067

GAPO syndrome

294

Fetal cytomegalovirus syndrome

40

63443

Gastric cancer

49.2

85212

Fetal Gaucher disease

0.01

44890

Gastrointestinal stromal tumor

13

1917

Fetal methylmercury syndrome

800 cases

2368

Gastroschisis

23.7**

291

Fetal varicella syndrome

> 100 cases

355

Gaucher disease

1

2072

Gaucher disease - ophthalmoplegia cardiovascular calcification

77259

Gaucher disease type 1

Fatal familial insomnia

2021

Fibrochondrogenesis

337

Fibrodysplasia ossificans progressiva

* Lifetime prevalence

11 cases 0.05

2**

27 cases

< 10 cases 1

** Prevalence at birth

Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - May 2014 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf

13

Prevalence of rare diseases: Bibliographic data - Listed in alphabetical order of disease or group of diseases

ORPHA Disease or group of diseases Number

Number of Estimated published prevalence cases or (/100,000) families

ORPHA Disease or group of diseases Number

77260

Gaucher disease type 2

0.01

1770

2 cases

77261

Gaucher disease type 3

0.05

Gonadal dysgenesis, XY type - associated anomalies

79330

GCS1-CDG

65798

Goodman syndrome

3 cases

73

Gorham-Stout disease

< 300 cases

377

Gorlin syndrome

2095

Gorlin-Chaudhry-Moss syndrome

53693

GRACILE syndrome

2**

39812

Graft versus host disease

2.76

79094

Grange syndrome

900

Granulomatosis with polyangiitis

3274

Granulomatous arthritis of childhood

40 families

33111

Granulomatous slack skin

< 50 cases

35858

Gräsbeck-Imerslund disease

300 cases

721

Gray platelet syndrome

60 cases

1426

Greenberg dysplasia

< 10 cases

2 cases

2623

Geleophysic dysplasia

27 cases

85201

Genitopatellar syndrome

7 cases

2077

German syndrome

5 cases

643

Giant axonal neuropathy

20 families

2027

Gingival fibromatosis - progressive deafness

2 families

358

Gitelman syndrome

2084

Glaucoma - ectopia - microspherophakia - stiff joints - short stature

2085

2.5 3 cases

Glaucoma - sleep apnea 10

360

Glioblastoma

1

73223

Global developmental delay - osteopenia ectodermal defect

3 cases

Glomerulonephritis - sparse hair telangiectasis

< 10 cases

141163 Glossopalatine ankylosis 35710

Glucose-galactose malabsorption

25

Glutaryl-CoA dehydrogenase deficiency

32

Glutathione synthetase deficiency

407

Glycine encephalopathy

0.17

365

Glycogen storage disease due to acid maltase deficiency

0.8**

7 cases 10

380

Greig cephalopolysyndactyly syndrome

100 cases

381

Griscelli disease

60 cases

300 cases

2055

Growth deficiency - brachydactyly dysmorphism

2 families

73272

Growth delay due to insulin-like growth factor type 1 deficiency

4 cases

2102

GTP cyclohydrolase I deficiency

17 cases

382

Guanidinoacetate methyltransferase deficiency

2103

Guillain-Barré syndrome

65 cases

Glycogen storage disease due to GLUT2 deficiency

367

Glycogen storage disease due to glycogen branching enzyme deficiency

2089

Glycogen storage disease due to hepatic glycogen synthase deficiency

34587

Glycogen storage disease due to LAMP-2 deficiency

< 200 cases

100 cases

2342

Haim-Munk syndrome

< 100 cases

16 cases

1408

Hair defect - photosensitivity - intellectual disability

3 cases

84 cases

58017

Hairy cell leukemia

2108

Hallermann-Streiff syndrome

< 100 cases

457

Harlequin ichthyosis

< 100 cases

2116

Hartnup syndrome

2117

Hartsfield-Bixler-Demyer syndrome

6 cases

99872

Hashimoto-Pritzker syndrome

< 50 cases

1354

Heart defects - limb shortening

2 cases

2119

HEC syndrome

2 cases

3 cases

371

Glycogen storage disease due to muscle phosphofructokinase deficiency

< 30 cases

715

Glycogen storage disease due to muscle phosphorylase kinase deficiency

< 30 cases

713

Glycogen storage disease due to phosphoglycerate kinase 1 deficiency

30 families

97234

Glycogen storage disease due to phosphoglycerate mutase deficiency

< 50 cases

Goldberg-Shprintzen megacolon syndrome

166272 Goldblatt syndrome

52 cases 3.45

168569 H syndrome

0.1**

137625 Glycogen storage disease due to muscle and heart glycogen synthase deficiency

3.12*

4

10 cases

178330 Heinz body anemia

< 10 cases

11 cases

86813

Helicoid peripapillary chorioretinal degeneration

100 cases

2130

Hemimelia

86817

Hemolytic anemia due to adenylate kinase deficiency

374

Goldenhar syndrome

53540

Goldmann-Favre syndrome

< 50 cases

1986

Gollop-Wolfgang complex

200 cases

1532

Gómez-López-Hernández syndrome

34 cases

2.8

4.15

* Lifetime prevalence

14

7 cases

30 cases 1**

2088

66629

1.8

5 cases

182067 Glial tumor

2087

Number of Estimated published prevalence cases or (/100,000) families

12 cases

** Prevalence at birth

Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - May 2014 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf

Prevalence of rare diseases: Bibliographic data - Listed in alphabetical order of disease or group of diseases

Number of Estimated published prevalence cases or (/100,000) families

ORPHA Disease or group of diseases Number

ORPHA Disease or group of diseases Number

Number of Estimated published prevalence cases or (/100,000) families 0.2

712

Hemolytic anemia due to glucophosphate isomerase deficiency

50 cases

743

Hereditary thrombophilia due to congenital protein S deficiency

90030

Hemolytic anemia due to glutathione reductase deficiency

3 cases

71291

Hereditary vascular retinopathy

1 family

3467

Hereditary xanthinuria

150 cases

79430

Hermansky-Pudlak syndrome

448

Hemophilia

7.7

98878

Hemophilia A

7

98879

Hemophilia B

2

178396 Hemorrhagic disease due to alpha-1antitrypsin Pittsburgh mutation

3 cases

2136

Hennekam syndrome

> 50 cases

2135

Hennekam-Beemer syndrome

2 cases

890

Hepatic veno-occlusive disease

79124

Hepatic veno-occlusive disease immunodeficiency

449

Hepatoblastoma

0.54

88673

Hepatocellular carcinoma

1

86882

Hepatosplenic T-cell lymphoma

0.03

91378

Hereditary angioedema

1

145

Hereditary breast and ovarian cancer syndrome 25

676

Hereditary chronic pancreatitis

11 < 25 cases

0.3

168577 Hereditary cryohydrocytosis with reduced stomatin

2 cases

288

Hereditary elliptocytosis

90045

Hereditary folate malabsorption

469

Hereditary fructose intolerance

5

774

Hereditary hemorrhagic telangiectasia

16

163

Hereditary hyperferritinemia with congenital cataracts

> 64 cases

79091

Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia

19 cases

Hereditary myoclonus - progressive distal muscular atrophy

< 10 cases

Hereditary myopathy with lactic acidosis due to ISCU deficiency

19 cases

2590 43115 1062

35 30 cases

Hereditary neurocutaneous angioma

< 10 families

168583 Hereditary North American Indian childhood cirrhosis

36 cases

30

< 20 cases

Hereditary orotic aciduria

HERNS syndrome

189

Hidrotic ectodermal dysplasia

1808

Hidrotic ectodermal dysplasia, ChristiansonFourie type

1809

Hidrotic ectodermal dysplasia, Halal type

388

Hirschsprung disease

2155

Hirschsprung disease - deafness - polydactyly

2 cases

2153

Hirschsprung disease - nail hypoplasia dysmorphism

3 cases

2150

Hirschsprung disease - type D brachydactyly

4 cases

98293

Hodgkin lymphoma

93970

Holmes-Gang syndrome

2162

Holoprosencephaly

13.4**

392

Holt-Oram syndrome

0.4**

2168

Homocarnosinosis

4 cases

622

Homocystinuria without methylmalonic aciduria

73 cases

85295

HSD10 disease, atypical type

5 cases

3265

Humero-radial synostosis

150 cases

3266

Humero-radio-ulnar synostosis

30 cases

1792

Humerospinal dysostosis

5 cases

94056

Humero-ulnar synostosis

5 cases

97340

Hunter-McAlpine craniosynostosis

399

Huntington disease

7

93473

Hurler syndrome

0.57

93476

Hurler-Scheie syndrome

0.23

740

Hutchinson-Gilford progeria syndrome

0.005

2186

Hydrocephalus - blue sclerae - nephropathy

1 family

2180

Hydrocephalus - costovertebral dysplasia Sprengel anomaly

8 cases

2182

Hydrocephalus with stenosis of aqueduct of Sylvius

13 cases

2181

Hydrocephaly - tall stature - joint laxity

178464 Hereditary proximal myopathy with early respiratory failure

< 10 families

2189

Hydrolethalus

970

139573 Hereditary sensory and autonomic neuropathy with deafness and global delay

3 families 1 6 cases 4 cases 12.1**

10 3 cases

10 cases

1.7 2 cases 5** 11 cases

35 cases

168588 Hyperandrogenism due to cortisone reductase deficiency 209902 Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency

24 cases

4 cases

83639

2 cases

Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency

685

Hereditary spastic paraplegia

5

822

Hereditary spherocytosis

20

163985 Hyperekplexia - epilepsy

745

Hereditary thrombophilia due to congenital protein C deficiency

0.2

168956 Hypereosinophilic syndrome

* Lifetime prevalence

8 cases

63261

158025 Hereditary progressive mucinous histiocytosis

Hereditary sensory and autonomic neuropathy type 2

0.15

183678 Hermansky-Pudlak syndrome with neutropenia

2 cases 1.5

** Prevalence at birth

Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - May 2014 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf

15

Prevalence of rare diseases: Bibliographic data - Listed in alphabetical order of disease or group of diseases

Number of Estimated published prevalence cases or (/100,000) families

ORPHA Disease or group of diseases Number 343

Hyperimmunoglobulinemia D with periodic fever

200 cases

682

Hyperkalemic periodic paralysis

1336

Hyperkeratosis-hyperpigmentation syndrome

411

Hyperlipoproteinemia type 1

0.1

412

Hyperlipoproteinemia type 3

7.8

73267

Hypernychthemeral syndrome

18.5

415

Hyperornithinemia-hyperammonemiahomocitrullinuria

12

0.5

157798 Hyperplastic polyposis syndrome

10 cases

50

1519

Hypertelorism, Teebi type

20 cases

2220

Hypertrichosis cubiti - short stature

28 cases

2222

Hypertrichosis lanuginosa congenita

< 100 cases

966

Hypertrichosis-acromegaloid facial appearence syndrome

< 20 cases

2765

Hypertrichotic osteochondrodysplasia

18 cases

1517

Hypertrichotic osteochondrodysplasia, Cantu type

40 cases

429

Hypochondroplasia

36412

Hypocomplementemic urticarial vasculitis

3.3 < 200 cases

989

Hypoglossia - hypodactyly

< 50 cases

2235

Hypogonadotropic hypogonadism - retinitis pigmentosa

2 cases

Hypohidrotic ectodermal dysplasia hypothyroidism - ciliary dyskinesia

3 cases

1882 681

Hypokalemic periodic paralysis

1790

Hypomandibular faciocranial dysostosis

4 cases

85163

Hypomyelination - congenital cataract

10 cases

88637

Hypomyelination - hypogonadotropic hypogonadism - hypodontia

4 cases

ORPHA Disease or group of diseases Number

Number of Estimated published prevalence cases or (/100,000) families

254509 Iatrogenic botulism

> 180 cases

453

IBIDS syndrome

15 cases

2268

ICF syndrome

50 cases

2269

Ichthyosis - alopecia - eclabion - ectropion intellectual disability

4 cases

2274

Ichthyosis - hepatosplenomegaly - cerebellar degeneration

2 cases

59303

Ichthyosis - hypotrichosis - sclerosing cholangitis

< 20 cases

2272

Ichthyosis - oral and digital anomalies

2 cases

2273

Ichthyosis follicularis - alopecia - photophobia

> 40 cases

88621

Ichthyosis prematurity syndrome

16 families

91132

Ichthyosis-hypotrichosis syndrome

930

Idiopathic achalasia

724

Idiopathic acute eosinophilic pneumonia

422

Idiopathic and/or familial pulmonary arterial hypertension

1.5

88

Idiopathic aplastic anemia

0.4

3260

Idiopathic hypereosinophilic syndrome

10

45452

Idiopathic neonatal atrial flutter

2**

2032

Idiopathic pulmonary fibrosis

11.5

69061

Idiopathic steroid-sensitive nephrotic syndrome

18

85173

IMAGe syndrome

42062

Iminoglycinuria

37042

Immune dysregulation-polyendocrinopathyenteropathy-X-linked syndrome

3002

Immune thrombocytopenic purpura

572

Immunodeficiency by defective expression of HLA class 2

4 cases 10 > 100 cases

< 20 cases

1

139441 Hypomyelination with atrophy of basal ganglia and cerebellum

19 cases

2237

12 cases

Hypoparathyroidism - deafness - renal disease

436

Hypophosphatasia

0.21**

2244

Hypopituitarism - microphthalmia

< 10 cases

2245

Hypopituitarism - postaxial polydactyly

6 cases

2248

Hypoplastic left heart syndrome

15.1**

6.68 136 cases 25 100 cases

169100 Immunodeficiency due to CD25 deficiency

2 cases

70592

Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency

< 15 cases

70593

Immunodeficiency due to selective antipolysaccharide antibody deficiency

100 cases

75391

Immunodeficiency with natural-killer cell deficiency and adrenal insufficiency

4 cases

83449

Inappropriate antidiuretic hormone secretion syndrome

2 cases

45453

Incessant infant ventricular tachycardia

1.5**

157788 Hypospadias - hypertelorism - coloboma and deafness

2 cases

163690 Hypotonia - cystinuria syndrome

22 cases

137908 Hypotonia with lactic acidemia and hyperammonemia

3 cases

611

Inclusion body myositis

0.49

69735

Hypotrichosis - lymphedema - telangiectasia

4 cases

464

Incontinentia pigmenti

0.7**

55654

Hypotrichosis simplex

38 cases

98848

Indolent systemic mastocytosis

3.8

1573

Hypotrichosis with juvenile macular degeneration

50 cases

1943

Infant epilepsy with migrant focal crisis

29 cases

2266

Hypotrichosis-intellectual disability, Lopes type

2 cases

1313

Infantile choroidocerebral calcification syndrome

10 cases

* Lifetime prevalence

16

** Prevalence at birth

Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - May 2014 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf

Prevalence of rare diseases: Bibliographic data - Listed in alphabetical order of disease or group of diseases

Number of Estimated published prevalence cases or (/100,000) families

ORPHA Disease or group of diseases Number

ORPHA Disease or group of diseases Number

Number of Estimated published prevalence cases or (/100,000) families

35069

Infantile neuroaxonal dystrophy

> 150 cases

85323

intellectual disability, X-linked, Seemanova type

4 cases

1186

Infantile onset spinocerebellar ataxia

24 cases

85286

intellectual disability, X-linked, Shashi type

9 cases

90003

Inflammatory pseudotumor of the liver

143 cases

85324

intellectual disability, X-linked, Shrimpton type

3 cases

85287

intellectual disability, X-linked, Siderius type

4 cases

3063

intellectual disability, X-linked, Snyder type

11 cases

85325

intellectual disability, X-linked, Stevenson type

4 cases

85288

intellectual disability, X-linked, Stocco Dos Santos type

4 cases

85289

intellectual disability, X-linked, Vitale type

8 cases

85290

intellectual disability, X-linked, Wilson type

3 cases

85291

intellectual disability, X-linked, Wittwer type

3 cases

85337

intellectual disability, X-linked, Zorick type

6 cases

3454

Intellectual disability-developmental delaycontractures syndrome

6 cases

981

Internal carotid agenesis

100 cases

79099

Interstitial granulomatous dermatitis with arthritis

53 cases

254504 Inhalational botulism

10 cases

210141 Inherited congenital spastic tetraplegia

5 cases

79361

Inherited epidermolysis bullosa

0.8

171860 intellectual disability - cataracts - kyphosis

3 cases

3044

intellectual disability - dysmorphism hypogonadism - diabetes mellitus

4 cases

1495

intellectual disability - hypoplastic corpus callosum - preauricular tag

3 cases

intellectual disability - sparse hair brachydactyly

6 cases

3051

166108 intellectual disability, Birk-Barel type

1 family

85327

2 cases

intellectual disability, X-linked - acromegaly hyperactivity

163979 intellectual disability, X-linked craniofacioskeletal syndrome

7 cases

85280

intellectual disability, X-linked - cubitus valgus - dysmorphism

5 cases

1568

intellectual disability, X-linked - Dandy-Walker malformation - basal ganglia disease - Seizures

16 cases

2958

intellectual disability, X-linked - dysmorphism - cerebral atrophy

8 cases

85319

intellectual disability, X-linked - epilepsy progressive joint contractures - dysmorphism

2 cases

85317

intellectual disability, X-linked hypogammaglobulinemia - progressive neurological deterioration

3 cases

intellectual disability, X-linked - hypogonadism - ichthyosis - obesity - short stature

4 cases

85329

intellectual disability, X-linked - hypotonia facial dysmorphism - aggressive behavior

10 cases

85320

intellectual disability, X-linked - macrocephaly - macro-orchidism

12 cases

85331

2898

intellectual disability, X-linked - plagiocephaly

2 cases

85318

intellectual disability, X-linked - precocious puberty - obesity

3 cases

3077

intellectual disability, X-linked - psychosis macroorchidism

6 cases

intellectual disability, X-linked - seizures psoriasis

4 cases

85273

intellectual disability, X-linked, Abidi type

8 cases

85276

intellectual disability, X-linked, Armfield type

6 cases

85277

intellectual disability, X-linked, Cantagrel type

9 cases

3052

163961 intellectual disability, X-linked, Kroes type

3 cases

85283

4 cases

intellectual disability, X-linked, MilesCarpenter type

137622 Intractable diarrhea - choanal atresia - eye anomalies

3 cases

209981 IRIDA syndrome

50 cases

209943 IRVAN syndrome

< 30 cases

6

Isolated 3-methylcrotonyl-CoA carboxylase deficiency

2.3**

1048

Isolated anencephaly/exencephaly

35**

250923 Isolated aniridia

1.38

2542

Isolated anophthalmia - microphthalmia

5.3

557

Isolated anorectal malformation

24

3387

Isolated anterior cervical hypertrichosis

35099

Isolated brachycephaly

2343

Isolated cloverleaf skull syndrome

150 cases

88620

Isolated congenital anosmia

< 15 cases

217

Isolated Dandy-Walker malformation

2.1**

2345

Isolated Klippel-Feil syndrome

2

718

Isolated Pierre Robin syndrome

5**

35098

Isolated plagiocephaly

10

35093

Isolated scaphocephaly

20

823

Isolated spina bifida

18.6**

3366

Isolated trigonocephaly

6.7

2306

Isotretinoin-like syndrome

33

Isovaleric acidemia

2307

IVIC syndrome

4 families

Jackson-Weiss syndrome

2 families

< 20 cases 5

6 cases 1

85322

intellectual disability, X-linked, Pai type

1 family

1540

85285

intellectual disability, X-linked, Schimke type

4 cases

2308

Jacobsen syndrome

150 cases

1873

Jalili syndrome

49 cases

* Lifetime prevalence

** Prevalence at birth

Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - May 2014 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf

17

Prevalence of rare diseases: Bibliographic data - Listed in alphabetical order of disease or group of diseases

ORPHA Disease or group of diseases Number

Number of Estimated published prevalence cases or (/100,000) families

ORPHA Disease or group of diseases Number

Number of Estimated published prevalence cases or (/100,000) families

90647

Jervell and Lange-Nielsen syndrome

0.3

389

Langerhans cell histiocytosis

2

2315

Johanson-Blizzard syndrome

626

Large congenital melanocytic nevus

2

475

Joubert syndrome

633

Laron syndrome

0.2

23 cases 1

140874 Joubert syndrome and related disorders

1.1**

1454

Joubert syndrome with hepatic defect

8 cases

2754

Joubert syndrome with orofaciodigital defect

29 cases

2319

Juberg-Hayward syndrome

10 cases

93972

Juberg-Marsidi syndrome

305

Junctional epidermolysis bullosa

16 cases 0.06

220465 Laron syndrome with immunodeficiency

< 10 cases

2375

Laryngeal abductor paralysis - intellectual disability

< 20 cases

2004

Laryngo-tracheo-esophageal cleft

46059

Lathosterolosis

650

LCAT deficiency

65

Leber congenital amaurosis

10

104

Leber hereditary optic neuropathy

1.5

99718

Leber 'plus' disease

0.04

7.5** < 5 cases 125 cases

2778

Juvenile chronic recurrent multifocal osteomyelitis

> 260 cases

2028

Juvenile hyaline fibromatosis

50 cases

86834

Juvenile myelomonocytic leukemia

0.1

549

Legionellosis

1.5

79264

Juvenile neuronal ceroid lipofuscinosis

0.46

506

Leigh syndrome

2.75**

2801

Juvenile Paget disease

50 cases

140936 Lelis syndrome

79076

Juvenile polyposis of infancy

11 cases

2382

Lennox-Gastaut syndrome

85436

Juvenile psoriatic arthritis

4.2

2658

Lenz-Majewski hyperostotic dwarfism

9 cases

85408

Juvenile rheumatoid factor-negative polyarthritis

8

500

LEOPARD syndrome

200 cases

510

Lesch-Nyhan syndrome

85435

Juvenile rheumatoid factor-positive polyarthritis

4.2

1187

Lethal ataxia with deafness and optic atrophy

12 cases

26137

Juvenile temporal arteritis

1972

Lethal faciocardiomelic dysplasia

3 cases

2322

Kabuki syndrome

1046

Lethal hemolytic anemia - genital anomalies

2 cases

2347

Lethal Kniest-like dysplasia

2 cases

2371

Lethal Larsen-like syndrome

< 10 cases

33108

Lethal multiple pterygium syndrome

28 families

2736

Lethal omphalocele-cleft palate syndrome

3 cases

1832

Lethal osteosclerotic bone dysplasia

8 families

20 cases 3.1

168972 Kahrizi syndrome

3 cases

2324

Kaler-Garrity-Stern syndrome

2 cases

478

Kallmann syndrome

2326

Kallmann syndrome - heart disease

33276

Kaposi's sarcoma

2328

Kapur-Toriello syndrome

4 cases

2330

Kasabach-Merritt syndrome

> 175 cases

2332

KBG syndrome

59 cases

480

Kearns-Sayre syndrome

2

481

Kennedy disease

1.7**

2339

Keratosis follicularis - dwarfism - cerebral atrophy

6 cases

86919

Keratosis palmaris et plantaris - clinodactyly

< 20 cases

3.75 8 cases 2.11

134

Ketoacidosis due to beta-ketothiolase deficiency

60 cases

477

KID syndrome

< 100 cases

482

Kimura disease

200 cases

2352

Kozlowski-Brown-Hardwick syndrome

487

Krabbe disease

2355

Kumar-Levick syndrome

1 family

2363

Lacrimo-auriculo-dento-digital syndrome

20 cases

43393

Lambert-Eaton myasthenic syndrome

137871 Laminopathy type Decaudain-Vigouroux

2 cases 1**

1 9 cases

0.34**

210144 Lethal polymalformative syndrome, Boissel type

8 cases

1423

Lethal recessive chondrodysplasia

4 cases

1662

Lethal restrictive dermopathy

30 cases

99870

Letterer-Siwe disease

2968

Leukocyte adhesion deficiency

< 350 cases

99843

Leukocyte adhesion deficiency type II

< 10 cases

99844

Leukocyte adhesion deficiency type III

17 cases

0.2

137639 Leukoencephalopathy - ataxia - hypodontia hypomyelination

8 cases

163684 Leukoencephalopathy - dystonia - motor neuropathy

2 cases

83629

4 cases

Leukoencephalopathy - metaphyseal chondrodysplasia

139444 Leukoencephalopathy with bilateral anterior temporal lobe cysts

29 cases

137898 Leukoencephalopathy with brain stem and spinal cord involvement - high lactate

39 cases

2386

4 cases

Leukoencephalopathy-palmoplantar keratoderma syndrome

* Lifetime prevalence

18

8 cases 15

** Prevalence at birth

Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - May 2014 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf

Prevalence of rare diseases: Bibliographic data - Listed in alphabetical order of disease or group of diseases

Number of Estimated published prevalence cases or (/100,000) families

ORPHA Disease or group of diseases Number 210133 Leukonychia totalis - acanthosis-nigricans-like lesions - abnormal hair

11 cases

2389

Lewis-Pashayan syndrome

3 cases

48162

Lewis-Sumner syndrome

65285

Lhermitte-Duclos disease

220 cases

2390

Lichstenstein syndrome

2 cases

526

Liddle syndrome

80 cases

0.9

97231

Ligneous conjunctivitis

1.1

2369

Limb body wall complex

2**

263

Limb-girdle muscular dystrophy

69085

Limb-mammary syndrome

673

Malaria

3

679

Malignant atrophic papulosis

2023

Malignant fibrous histiocytoma

2215

Malignant hyperthermia - arthrogryposis torticollis

> 200 cases 2.4 4 cases

168811 Malignant peritoneal mesothelioma

1.5

180242 Malignant tumor of fallopian tubes

1

Malonic aciduria

52417

MALT lymphoma

2457

Mandibuloacral dysplasia

37 cases

79113

Mandibulofacial dysostosis-microcephaly syndrome

4 cases

52416

Mantle cell lymphoma

2461

Marden-Walker syndrome

558

Marfan syndrome

444

Marie Unna hereditary hypotrichosis

< 15 cases

> 30 families

559

Marinesco-Sjögren syndrome

200 cases

0.8 8

140933 Linear atrophoderma of Moulin

< 30 cases

50811

Lipodystrophy - intellectual disability deafness

3 cases

530

Lipoid proteinosis

> 280 cases

171680 Lissencephaly due to TUBA1A mutation

Number of Estimated published prevalence cases or (/100,000) families

943

27 cases

220402 Limited cutaneous systemic sclerosis

ORPHA Disease or group of diseases Number

34 cases 4

4 < 50 cases 20

86821

Lissencephaly type 3 - familial fetal akinesia sequence

5 cases

560

Marshall syndrome

> 12 families

86822

Lissencephaly type 3 - metacarpal bone dysplasia

2 cases

42642

Marshall syndrome with periodic fever

41 cases

561

Marshall-Smith syndrome

33 cases

60030

Loeys-Dietz syndrome

10 families

5

Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency

2621

Low birth weight - dwarfism dysgammaglobulinemia

2 cases

Lowry-Wood syndrome

1824

Mastocytosis

9

2209

Maternal hyperphenylalaninemia

1.25

225

Maternally-inherited diabetes and deafness

0.1

2470

Matthew-Wood syndrome

< 10 cases

3109

Mayer-Rokitansky-Küster-Hauser syndrome

2 cases

57782

Mazabraud syndrome

562

McCune-Albright syndrome

59306

McLeod neuroacanthocytosis syndrome

150 cases

3097

Meacham syndrome

< 15 cases

564

Meckel syndrome

0.2**

70588

Meconium aspiration syndrome

2.44

2006

Median cleft lip/mandibule

42

Medium chain acyl-CoA dehydrogenase deficiency

538

Lymphangioleiomyomatosis

0.56

2415

Lymphatic malformation

12.5

86915

Lymphedema - atrial septal defects - facial changes

3 cases

86914

Lymphedema - cerebral arteriovenous anomaly

5 cases

470

Lysinuric protein intolerance

94061

Macrocephaly - immune deficiency - anemia

2 cases

2427

Macrocephaly - short stature - paraplegia

2 cases

1.7**

210548 Macrocephaly-autism syndrome

< 40 cases

83619

Macrostomia - preauricular tags - external ophthalmoplegia

9 cases

91494

Macular coloboma - cleft palate - hallux valgus

2 cases

98969

Macular corneal dystrophy

1

137867 Madras motor neuron disease

154 cases

163634 Maffucci syndrome

250 cases

556

> 700 cases

Malakoplakia

* Lifetime prevalence

11 cases

98292

1**

137631 Lung fibrosis - immunodeficiency - 46,XX gonadal dysgenesis

137862 Martínez-Frías syndrome

5 cases 11 54 cases 0.55

70 cases 12**

171851 MEDNIK syndrome

4 families

1332

Medullary thyroid carcinoma

2241

Megacystis-microcolon-intestinal hypoperistalsis syndrome

7 230 cases

2478

Megalencephalic leukoencephalopathy with subcortical cysts

< 100 cases

83473

Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus

6 cases

60040

Megalencephaly-capillary malformationpolymicrogyria syndrome

170 cases

** Prevalence at birth

Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - May 2014 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf

19

Prevalence of rare diseases: Bibliographic data - Listed in alphabetical order of disease or group of diseases

Number of Estimated published prevalence cases or (/100,000) families

ORPHA Disease or group of diseases Number 85282

MEHMO syndrome

2485

Melorheostosis

45360

Ménière disease

42.5

565

Menkes disease

551

MERRF syndrome

ORPHA Disease or group of diseases Number

7 cases

83642

Microcytic anemia with liver iron overload

3 cases

300 cases

2538

Microgastria - limb reduction defect

16 cases

50810

Microlissencephaly - micromelia

2 cases

0.33**

77299

Microphthalmia - brain atrophy

3 cases

0.9

139471 Microphthalmia with brain and digit anomalies

2 families

1106

Microphthalmia with limb anomalies

> 30 cases

2556

Microphthalmia with linear skin defects syndrome

< 50 cases

83463

Microtia

157801 Mesoaxial synostotic syndactyly with phalangeal reduction

2 families

50251

Mesothelioma

3.1

2499

Metachondromatosis

512

Metachromatic leukodystrophy

1240

Metaphyseal acroscyphodysplasia

4 cases

1040

Metaphyseal anadysplasia

27 cases

25 cases 0.1

166035 Metaphyseal chondrodysplasia - retinitis pigmentosa

2 cases

33067

16 cases

Metaphyseal chondrodysplasia, Jansen type

Number of Estimated published prevalence cases or (/100,000) families

13**

139450 Microtia - eye coloboma - imperforation of the nasolacrimal duct

1 family

169808 Mild hemophilia A

2.8

169799 Mild hemophilia B

0.6

531

Miller-Dieker syndrome

1**

3004

Mirror polydactyly - vertebral segmentation limbs defects

0.3**

1933

Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria

2 cases

2598

Mitochondrial myopathy and sideroblastic anemia

7 cases

166038 Metaphyseal chondrodysplasia, Kaitila type

2 cases

2635

Metatropic dysplasia

80 cases

1923

Methimazole embryofetopathy

40 cases

2169

Methylcobalamin deficiency type cblE

27 cases

2170

Methylcobalamin deficiency type cblG

33 cases

26

Methylmalonic acidemia with homocystinuria

> 500 cases

298

Mitochondrial neurogastrointestinal encephalomyopathy

0.1

79282

Methylmalonic acidemia with homocystinuria, type cblC

500 cases

2443

Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies

9

79283

Methylmalonic acidemia with homocystinuria, type cblD

17 cases

809

Mixed connective tissue disease

3.8

71516

Mixed dystonia

Methylmalonic acidemia with homocystinuria, type cblF

15 cases

45448

Miyoshi myopathy

29

Mevalonic aciduria

30 cases

79329

MGAT2-CDG

4 cases

2506

Michels syndrome

7 cases

2510

Micro syndrome

8 cases

2511

Microbrachycephaly - ptosis - cleft lip

2 cases

85172

Microcephalic osteodysplastic dysplasia, SaulWilson type

4 cases

2636

Microcephalic osteodysplastic primordial dwarfism types I and III

< 30 cases

3433

Microcephaly - brachydactyly - kyphoscoliosis

3 cases

2515

Microcephaly - cardiomyopathy

3 cases

2521

Microcephaly - cleft palate

3 cases

79284

137653 Microcephaly - digital anomalies - intellectual disability 2172

Microcephaly - glomerulonephritis - marfanoid habitus

2 cases 2 cases

137658 Microcephaly - intellectual disability phalangeal and neurological anomalies

3 cases

171703 Microcephaly - polymicrogyria - corpus callosum agenesis

4 cases

2519

2 cases

Microcephaly - seizures - intellectual disability - heart disease

0.26

169805 Moderately severe hemophilia A

1.4

169796 Moderately severe hemophilia B

0.6

570

Moebius syndrome

300 cases

52368

Mohr-Tranebjaerg syndrome

> 91 cases

91136

Monoclonal Ig light chain-associated Fanconi syndrome

100 cases

2565

Mononen-Karnes-Senac syndrome

5 cases

1598

Monosomy 18p

< 200 cases

574

Monosomy 21

< 50 cases

48652

Monosomy 22q13

> 200 cases

281

Monosomy 5p

77301

Monosomy 9q22.3

30 cases

2569

Moore-Federman syndrome

6 cases

1052

Mosaic variegated aneuploidy syndrome

41 cases

3347

Mounier-Kühn syndrome

> 300 cases

2152

Mowat-Wilson syndrome

< 200 cases

2573

Moyamoya disease

4**

* Lifetime prevalence

20

3 families

0.33 ** Prevalence at birth

Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - May 2014 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf

Prevalence of rare diseases: Bibliographic data - Listed in alphabetical order of disease or group of diseases

Number of Estimated published prevalence cases or (/100,000) families

ORPHA Disease or group of diseases Number

ORPHA Disease or group of diseases Number

Number of Estimated published prevalence cases or (/100,000) families

7 cases

69087

Naegeli-Franceschetti-Jadassohn syndrome

0.035

20 cases

2614

Nail-patella syndrome

2

2613

Nail-patella-like renal disease

3 cases

627

Nance-Horan syndrome

50 families

79323

MPDU1-CDG

79319

MPI-CDG

576

Mucolipidosis type 2

578

Mucolipidosis type 4

579

Mucopolysaccharidosis type 1

1**

2073

Narcolepsy-cataplexy

25

580

Mucopolysaccharidosis type 2

0.6**

644

NARP syndrome

8.3

581

Mucopolysaccharidosis type 3

0.87**

2399

Nasopalpebral lipoma - coloboma - telecanthus

582

Mucopolysaccharidosis type 4

0.4

583

Mucopolysaccharidosis type 6

0.16**

2770

Nasu-Hakola disease

0.15

584

Mucopolysaccharidosis type 7

0.01

607

Nemaline myopathy

1

79118

Neonatal diabetes - congenital hypothyroidism - congenital glaucoma - hepatic fibrosis polycystic kidneys

224

Neonatal diabetes mellitus

0.2

94058

Neovascular glaucoma

24.4

223

Nephrogenic diabetes insipidus

0.15

2668

Nephropathy - deafness - hyperparathyroidism

5 cases

2669

Nephrosis - deafness - urinary tract - digital malformations

5 cases

634

Netherton syndrome

2671

Neu-Laxova syndrome

0.15** > 100 cases

53271

Muenke syndrome

1.8**

587

Muir-Torre syndrome

> 205 cases

2576

MULIBREY nanism

115 cases

1655

Mullerian derivatives - lymphangiectasia polydactyly

3 cases

< 30 cases

2 cases

139436 Multicentric reticulohistiocytosis

< 200 cases

3282

Multifocal atrial tachycardia

100 cases

641

Multifocal motor neuropathy with conduction block

1.5

652

Multiple endocrine neoplasia type 1

11

2901

Neuralgic amyotrophy

653

Multiple endocrine neoplasia type 2

2.9

2675

Neuroaxonal dystrophy - renal tubular acidosis

251

Multiple epiphyseal dysplasia

5

635

Neuroblastoma

11.3

2481

Neurocutaneous melanocytosis

1.25

88639

Neurodegeneration due to 3-hydroxyisobutyrylCoA hydrolase deficiency

385

Neurodegeneration with brain iron accumulation

33445

Neuroectodermal melanolysosomal disease

30 cases

2316

Neuroectodermal syndrome, Johnson type

< 30 cases

2676

Neuroectodermal-endocrine syndrome

636

Neurofibromatosis type 1

23

637

Neurofibromatosis type 2

1.7

94093

Neuroleptic malignant syndrome

15

166024 Multiple epiphyseal dysplasia, Al-Gazali type

4 cases

29073

Multiple myeloma

11.5

321

Multiple osteochondromas

2

3151

Multiple sclerosis - ichthyosis - factor VIII deficiency

2 cases

585

Multiple sulfatase deficiency

50 cases

3237

Multiple synostoses syndrome

20 families

102

Multiple system atrophy

3.7

2579

Muscular atrophy - ataxia - retinitis pigmentosa - diabetes mellitus

10 cases

659

Mutilating palmoplantar keratoderma with periorificial keratotic plaques

55 cases

589

Myasthenia gravis

60 cases 3.3 3 cases

4 cases 2

4 cases

163746 Neurologic Waardenburg-Shah syndrome

< 30 cases

35705

Neurometabolic disorder due to serine deficiency

< 30 cases

71211

Neuromyelitis optica

20

268249 Mycophenolate mofetil embryopathy

25 cases

52688

Myelodysplastic syndromes

5

824

Myelofibrosis with myeloid metaplasia

1

2588

0.5

Myhre syndrome

16 cases

210566 Myoclonic dystonia 15

< 20 cases

1.5

139512 Neuropathy with hearing impairment

1 family

165

Neutral lipid storage disease

50 cases

2691

Nevo syndrome

10 cases

86909

Myoclonic epilepsy of infancy

106 cases

77292

Niemann-Pick disease type A

0.25**

2589

Myoclonus - cerebellar ataxia - deafness

4 cases

77293

Niemann-Pick disease type B

0.4

88635

Myopathy due to calsequestrin and SERCA1 protein overload

4 cases

646

Niemann-Pick disease type C

1

647

Nijmegen breakage syndrome

1**

N syndrome

3 cases

2608

* Lifetime prevalence

** Prevalence at birth

Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - May 2014 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf

21

Prevalence of rare diseases: Bibliographic data - Listed in alphabetical order of disease or group of diseases

ORPHA Disease or group of diseases Number

Number of Estimated published prevalence cases or (/100,000) families

ORPHA Disease or group of diseases Number

Number of Estimated published prevalence cases or (/100,000) families

467

Non-acquired combined pituitary hormone deficiency

29

85410

Oligoarticular juvenile arthritis

20.5

75378

Oligocone trichromacy

14 cases

2337

Non-epidermolytic palmoplantar keratoderma

2.5

2733

Omodysplasia

30 cases

660

Omphalocele

11.7

661

Ondine syndrome

0.5**

2739

Onycho-tricho-dysplasia - neutropenia

5 cases

2746

Opsismodysplasia

25 cases

217071 Non-familial renal cell carcinoma

42

209989 Non-papillary transitional cell carcinoma of the bladder

37

90031

Non-spherocytic hemolytic anemia due to hexokinase deficiency

17 families

648

Noonan syndrome

52994

Orbital leiomyoma

649

Norrie disease

300 cases

664

Ornithine transcarbamylase deficiency

1.4**

75327

North Carolina macular dystrophy

2 families

2750

Orofaciodigital syndrome type 1

1.2**

77304

Not NOTCH3-related small vessel disease of the brain

2 cases

2752

Orofaciodigital syndrome type 3

3 cases

2753

Orofaciodigital syndrome type 4

16 cases

3032

NPHP3-related Meckel-like syndrome

10 cases

2919

Orofaciodigital syndrome type 5

4 cases

88643

Obesity - colitis - hypothyroidism - cardiac hypertrophy - developmental delay

2 cases

2755

Orofaciodigital syndrome type 8

2 families

66628

Obesity due to congenital leptin deficiency

< 30 cases

73230

Ossification anomalies - psychomotor development delay

2 cases

71529

Obesity due to melanocortin 4 receptor deficiency

2764

Osteochondritis dissecans

2653

2 cases

71528

Obesity due to prohormone convertase I deficiency

16 cases

Osteochondrodysplatic nanism - deafness retinitis pigmentosa

2763

Osteocraniostenosis

< 20 cases

71526

Obesity due to pro-opiomelanocortin deficiency

7 cases

2484

Osteodysplasty, Melnick-Needles type

666

Osteogenesis imperfecta

198

Occipital horn syndrome

> 20 cases

2773

Ochoa syndrome

> 100 cases

Osteogenesis imperfecta - retinopathy seizures - intellectual disability

2 cases

2704

2780

Osteopathia striata - cranial sclerosis

100 cases

1000

Ocular albinism with late-onset sensorineural deafness

7 cases

91133

Osteopenia - myopia - hearing loss intellectual disability - facial dysmorphism

2 cases

194

Ocular coloboma

1125

Ocular motor apraxia, Cogan type

50 cases

1647

Oculocerebrocutaneous syndrome

40 cases

2707

Oculocerebrofacial syndrome, Kaufman type

534

Oculocerebrorenal syndrome

0.3**

55

Oculocutaneous albinism

5.9

2709

Oculodental syndrome, Rutherfurd type

1 family

2710

Oculodentodigital dysplasia

1876

50

50

8**

9 cases

16 cases

35

> 50 cases 7

178389 Osteopetrosis - hypogammaglobulinemia

8 cases

2785

Osteopetrosis with renal tubular acidosis

< 100 cases

2786

Osteoporosis - oculocutaneous hypopigmentation syndrome

3 cases

2788

Osteoporosis - pseudoglioma

0.05

668

Osteosarcoma

5

243 cases

178377 Osteosclerosis - developmental delay craniosynostosis

13 cases

Oculogastrointestinal muscular dystrophy

1 family

75325

Oculoosteocutaneous syndrome

3 cases

Osteosclerosis - ichthyosis - premature ovarian failure

3 cases

2713 77302

Oculo-oto-facial dysplasia

4 cases

669

Otopalatodigital syndrome

30 cases

2714

Oculo-palato-cerebral syndrome

5 cases

1427

Otospondylomegaepiphyseal dysplasia

< 30 cases

270

Oculopharyngeal muscular dystrophy

2718

Oculotrichodysplasia

2 cases

77295

Odontoleukodystrophy

4 cases

1811

Odontomicronychial dysplasia

5 cases

2721

Odonto-onycho-dermal dysplasia

< 15 cases

2723

Odontotrichomelic syndrome

4 cases

69082

Odonto-tricho-ungual-digito-palmar syndrome

21 cases

75382

Oguchi disease

50 cases

2729

Okamoto syndrome

2 cases

1

137634 Overgrowth - macrocephaly - facial dysmorphism

6 families

3203

Overhydrated hereditary stomatocytosis

20 families

36355

P2Y12 defect

5 cases

2796

Pachydermoperiostosis

204 cases

94084

Pachygyria - epilepsy - intellectual disability dysmorphism

< 10 cases

2309

Pachyonychia congenita

1000 cases

* Lifetime prevalence

22

** Prevalence at birth

Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - May 2014 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf

Prevalence of rare diseases: Bibliographic data - Listed in alphabetical order of disease or group of diseases

Number of Estimated published prevalence cases or (/100,000) families

ORPHA Disease or group of diseases Number 1952

Pacman dysplasia

< 10 cases

991

PAGOD syndrome

6 cases

1993

Pai syndrome

37 cases

672

Pallister-Hall syndrome

85112

Palmoplantar keratoderma - XX sex reversal predisposition to squamous cell carcinoma

33.3**

100 cases

2855

Perrault syndrome

61 cases

5 cases

178509 Perry syndrome

53 cases

97341

Persistent placoid maculopathy

5 cases

709

Peters-plus syndrome

< 80 cases

2869

Peutz-Jeghers syndrome

2.2**

710

Pfeiffer syndrome

1

42775

PHACE syndrome

716

Phenylketonuria

2880

Phosphoenolpyruvate carboxykinase deficiency

< 10 cases

3222

Phosphoribosylpyrophosphate synthetase superactivity

< 30 families

670

PIBIDS syndrome

20 cases

2888

Pierre Robin syndrome - faciodigital anomaly

2 cases

< 10 families < 10 families

2201

Palmoplantar keratoderma-spastic paralysis syndrome

25 cases

736

Palmoplantar porokeratosis of Mantoux

< 10 cases

217074 Pancreatic carcinoma

226292 Permanent congenital hypothyroidism

30 cases 4 cases

2202

Palmoplantar keratoderma-esophageal carcinoma syndrome

Perlman syndrome Permanent neonatal diabetes mellitus pancreatic and cerebellar agenesis

20 cases

2198

2849

Number of Estimated published prevalence cases or (/100,000) families

65288

140966 Palmoplantar keratoderma, Nagashima type Palmoplantar keratoderma-deafness syndrome

ORPHA Disease or group of diseases Number

12

100 cases 6

2255

Pancreatic hypoplasia - diabetes - congenital heart disease

< 10 cases

677

Pancreatoblastoma

60 cases

678

Papillon-Lefèvre syndrome

2670

Pierson syndrome

22 cases

63455

Paraneoplastic pemphigus

> 60 cases

2890

Pili torti - onychodysplasia

1 family

2823

Paraplegia - brachydactyly - cone-shaped epiphysis

5 cases

2892

Pilodental dysplasia - refractive errors

2 cases

2896

Pitt-Hopkins syndrome

50 cases

Paraplegia - intellectual disability hyperkeratosis

4 cases

2897

Pityriasis rubra pilaris

48 cases

54028

Plummer-Vinson syndrome

25 cases

79318

PMM2-CDG

0.64**

2911

Poland syndrome

1.1**

75790

Pollitt syndrome

767

Polyarteritis nodosa

2795

Polycystic ovaries - urethral sphincter dysfunction

729

Polycythemia vera

30

732

Polymyositis

7.1

2824

0.25

143

Parathyroid carcinoma

0.28

2825

PARC syndrome

60015

Parietal foramina

46348

Paroxysmal extreme pain disorder

2 cases 5 4 families

157835 Paroxysmal hemicrania

2

447

Paroxysmal nocturnal hemoglobinuria

0.3

79087

Partial acquired lipodystrophy

> 250 cases

1330

Partial atrioventricular canal

20

1646

Partial chromosome Y deletion

40

2805

Partial pancreatic agenesis

94083

Partington syndrome

706

Patent arterial duct

699

Pearson syndrome

702

Pelizaeus-Merzbacher disease

0.03

280224 Pelizaeus-Merzbacher disease, transitional form

0.03

Pelviscapular dysplasia

704

Pemphigus vulgaris

6 cases

269229 Pontine tegmental cap dysplasia

22 cases

2254

Pontocerebellar hypoplasia type 1

40 cases

2524

Pontocerebellar hypoplasia type 2

> 81 families

166063 Pontocerebellar hypoplasia type 4

10 families

166068 Pontocerebellar hypoplasia type 5

3 cases

166073 Pontocerebellar hypoplasia type 6

< 10 cases

166286 Porokeratotic eccrine ostial and dermal duct nevus

25 cases

4 cases 18

Peripheral resistance to thyroid hormones

* Lifetime prevalence

2934

2 families

11 cases

139426 Perioral myoclonia with absences 97927

50 cases

Polysyndactyly - cardiac malformation

0.25

280210 Pelizaeus-Merzbacher disease, connatal form

93333

3 cases

60 cases 0.17

PELVIS syndrome

33 cases

171848 Polyneuropathy - hearing loss - ataxia retinitis pigmentosa - cataract

50

280219 Pelizaeus-Merzbacher disease, classic form

83628

10 cases 3.1

< 10 cases 2.5

101330 Porphyria cutanea tarda

4

246

Postaxial acrofacial dysostosis

< 30 cases

2064

Posterior fusion of lumbosacral vertebrae blepharoptosis

3 cases

** Prevalence at birth

Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - May 2014 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf

23

Prevalence of rare diseases: Bibliographic data - Listed in alphabetical order of disease or group of diseases

ORPHA Disease or group of diseases Number

Number of Estimated published prevalence cases or (/100,000) families

ORPHA Disease or group of diseases Number

70568

Posttransplant lymphoproliferative disease

26.2

2999

52022

Potocki-Shaffer syndrome

739

Prader-Willi syndrome

2.8**

186

Primary biliary cirrhosis

13.5

244

Primary ciliary dyskinesia

5

23 cases

226295 Primary congenital hypothyroidism

37.5

171901 Primary cutaneous T-cell lymphoma

24

90026

Primary erythermalgia

93598

Primary hyperoxaluria type 1

90023

Primary immunodeficiency syndrome due to p14 deficiency

35689

182090 Pulmonary arterial hypertension

1 family 1.5

4 cases 1.5 391 cases 11

4 cases

69084

Pure hair and nail ectodermal dysplasia

763

Pycnodysostosis

3003

Pyknoachondrogenesis

5 cases

3005

Pyle disease

< 30 cases

69126

Pyogenic arthritis - pyoderma gangrenosum - acne

34 cases

3006

Pyridoxine-dependent epilepsy

2394

Pyruvate dehydrogenase E3 deficiency

3010

Qazi-Markouizos syndrome

70475

Radiation proctitis

0.2

Primary lateral sclerosis

Ptosis - strabismus - ectopic pupils

210136 Pulmonary fibrosis - hepatic hyperplasia bone marrow hypoplasia

30 families

238606 Primary orthostatic tremor

Number of Estimated published prevalence cases or (/100,000) families

< 20 cases 0.13

0.2** 20 cases 3 cases 35

171

Primary sclerosing cholangitis

71289

2959

Progeria - short stature - pigmented nevi

< 10 cases

Radio-ulnar synostosis - amegakaryocytic thrombocytopenia

< 20 cases

3021

RAPADILINO syndrome

< 20 cases

75373

Progressive bifocal chorioretinal atrophy

2 families

71517

Rapid-onset dystonia-parkinsonism

56965

Progressive bulbar paralysis of childhood

< 40 cases

> 10 families

3022

Rapp-Hodgkin syndrome

72 cases

19 cases

68411

Rare bone tumor

139447 Progressive cavitating leukoencephalopathy 100070 Progressive non-fluent aphasia

2.5

2062

Progressive non-infectious anterior vertebral fusion

683

Progressive supranuclear palsy

240103 Progressive supranuclear palsy - corticobasal syndrome

213500 Rare ovarian cancer 90 cases

10 30

1929

Rasmussen subacute encephalitis

> 100 cases

6

1115

Recessive aplasia cutis congenita of limbs

6 cases

0.6

139380 Recessive hereditary methemoglobinemia type 2

742

Prolidase deficiency

35

Propionic acidemia

50 cases

744

Proteus syndrome

606

Proximal myotonic myopathy

1

70

Proximal spinal muscular atrophy

83330

Proximal spinal muscular atrophy type 1

83418 83419

< 100 cases

461

Recessive X-linked ichthyosis

16.6

64740

Recurrent acute pancreatitis

10

97239

Reducing body myopathy

773

Refsum disease

3

83450

Regional odontodysplasia

139 cases

1.25

1475

Renal coloboma syndrome

180 cases

Proximal spinal muscular atrophy type 2

1.42

93975

Renier-Gabreels-Jasper syndrome

5 cases

Proximal spinal muscular atrophy type 3

0.26

3242

Renpenning syndrome

64 cases

83420

Proximal spinal muscular atrophy type 4

0.32

99832

Pseudoachondroplasia

1.6

Resistance to thyrotropin-releasing hormone syndrome

2 cases

750 85174

Pseudodiastrophic dysplasia

75326

Retinal arterial tortuosity

100 cases

1574

Retinal degeneration - nanophthalmos glaucoma

7 cases

3018

Retinal ischemic syndrome - digestive tract small vessel hyalinosis - diffuse cerebral calcifications

3 cases

0.002 200 cases

10 cases

4 families 0.1

756

Pseudohypoaldosteronism type 1

70 cases

757

Pseudohypoaldosteronism type 2

80 families

2985

Pseudoprogeria syndrome

758

Pseudoxanthoma elasticum

791

Retinitis pigmentosa

2981

Pseudo-Zellweger syndrome

< 10 cases

3085

Retinitis pigmentosa - intellectual disability deafness - hypogenitalism

88618

Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency

3 cases

790

Retinoblastoma

Pterygium colli - intellectual disability digital anomalies

2 cases

3087

Retinohepatoendocrinologic syndrome

90050

Retinopathy of prematurity

12.2**

49041

Retroperitoneal fibrosis

1.38

2988

2 cases 2.5

* Lifetime prevalence

24

30 2 families 1.05 7 cases

** Prevalence at birth

Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - May 2014 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf

Prevalence of rare diseases: Bibliographic data - Listed in alphabetical order of disease or group of diseases

ORPHA Disease or group of diseases Number

Number of Estimated published prevalence cases or (/100,000) families

ORPHA Disease or group of diseases Number

778

Rett syndrome

4

807

69077

Rhabdoid tumor

177

Rhizomelic chondrodysplasia punctata

59315

Rhombencephalosynapsis

Number of Estimated published prevalence cases or (/100,000) families

Sebastian syndrome

< 10 families

500 cases 1 50 cases

140976 RHYNS syndrome

4 cases

97229

Riboflavin transporter deficiency

80 cases

83312

Rickettsialpox

> 800 cases

1437

Ring chromosome 1

34 cases

1438

Ring chromosome 10

< 20 cases

1440

Ring chromosome 14

50 cases

1441

Ring chromosome 17

14 cases

1442

Ring chromosome 18

70 cases

1444

Ring chromosome 20

> 50 cases

91481

Ring dermoid of cornea

< 30 cases

3103

Roberts syndrome

168606 Seborrhea-like dermatitis with psoriasiform elements

44 cases

808

Seckel syndrome

85445

Secondary amyloidosis

100 cases

67039

Segmental odontomaxillary dysplasia

32 cases

79156

Seizures - intellectual disability due to hydroxylysinuria

3 cases

3156

Senior-Loken syndrome

66633

Sensorineural hearing loss - early graying essential tremor

17

0.1 3 cases

139466 SERKAL syndrome

3 cases

85165

Severe achondroplasia - developmental delay acanthosis nigricans

4 cases

277

Severe combined immunodeficiency due to adenosine deaminase deficiency

0.22

< 150 cases

42738

Severe congenital neutropenia

0.4**

169802 Severe hemophilia A

2.8 0.8

97360

Robinow syndrome

200 cases

169793 Severe hemophilia B

3105

Robinow-like syndrome

2 cases

94066

209370 Severe neonatal-onset encephalopathy with microcephaly

< 30 cases

3078

Severe X-linked intellectual disability, Gustavson type

7 cases

3162

Sézary syndrome

101016 Romano-Ward syndrome

40

2909

Rothmund-Thomson syndrome

300 cases

83616

Rubella panencephalitis

> 20 cases

783

Rubinstein-Taybi syndrome

3118

Rudiger syndrome

794

Saethre-Chotzen syndrome

3128

Sakati-Nyhan syndrome

0.6** 2 cases 3** < 5 cases

140969 Saldino-Mainzer syndrome

10 cases

Severe intellectual disability - epilepsy - anal anomalies - distal phalangeal hypoplasia

104008 Short bowel syndrome

2 cases

0.18 3.4

66518

Short fifth metacarpals - insulin resistance

6 cases

2649

Short stature - intellectual disability - eye anomalies - cleft lip/palate

3 cases

85442

Short stature - pituitary and cerebellar defects - small sella turcica

1 family

2865

Short stature - webbed neck - heart disease

4 cases

629

Short stature due to growth hormone qualitative anomaly

3 cases

2867

Short stature, Brussels type

2 cases

3163

SHORT syndrome

30 cases

2462

Shprintzen-Goldberg syndrome

< 50 cases

79269

Sanfilippo syndrome type A

0.3

797

Sarcoidosis

15

3129

Sarcosinemia

2

3132

Say-Barber-Miller syndrome

2 cases

1003

Scalp defects - postaxial polydactyly

2 cases

2036

Scalp-ear-nipple syndrome

30 cases

3134

SCARF syndrome

2 cases

93474

Scheie syndrome

2353

Schilbach-Rott syndrome

13 cases

811

Shwachman-Diamond syndrome

0.55**

1830

Schimke immuno-osseous dysplasia

50 cases

232

Sickle cell anemia

15

798

Schinzel-Giedion syndrome

34 cases

3167

Siegler-Brewer-Carey syndrome

2 cases

799

Schizencephaly

71276

Silent sinus syndrome

98 cases

37748

Schnitzler syndrome

150 cases

3168

Sillence syndrome

50944

Schöpf-Schulz-Passarge syndrome

19 cases

813

Silver-Russell syndrome

800

Schwartz-Jampel syndrome

100 cases

373

Simpson-Golabi-Behmel syndrome

185

Scimitar syndrome

2**

> 100 cases

801

Scleroderma

42

79022

Simpson-Golabi-Behmel syndrome type 2

4 cases

85191

Singleton-Merten dysplasia

< 10 cases

0.2

1.5**

158029 Sea-blue histiocytosis

* Lifetime prevalence

60 cases

5 cases 0.8**

** Prevalence at birth

Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - May 2014 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf

25

Prevalence of rare diseases: Bibliographic data - Listed in alphabetical order of disease or group of diseases

ORPHA Disease or group of diseases Number

Number of Estimated published prevalence cases or (/100,000) families

ORPHA Disease or group of diseases Number

3169

Sirenomelia

0.71**

71271

Split hand - split foot - deafness

2882

Sitosterolemia

2437

Split hand - urinary anomalies - spina bifida

816

Sjögren-Larsson syndrome

2440

Split hand-split foot malformation

1436

Skeletal dysplasia - intellectual disability

3275

Spondylocarpotarsal synostosis

24 cases

70573

Small cell lung cancer

94095

4 cases

93974

Smith-Fineman-Myers syndrome

Spondylocostal dysostosis - anal and genitourinary malformations

1855

Spondyloenchondrodysplasia

36 cases

818

Smith-Lemli-Opitz syndrome

3.7**

819

Smith-Magenis syndrome

5.3

91496

Snowflake vitreoretinal degeneration

3394

Soft tissue sarcoma

23.7

97230

Solar urticaria

36

821

Sotos syndrome

0.3**

79132

Sparse hair - short stature - skin anomalies

4 cases

2818

Spastic paraplegia - glaucoma - intellectual disability

2820

40 cases 0.4** 2 families 11.2 11 families

< 50 cases

Number of Estimated published prevalence cases or (/100,000) families 22 cases 3 cases 5.4**

168451 Spondyloepimetaphyseal dysplasia - abnormal dentition

2 cases

168443 Spondyloepimetaphyseal dysplasia hypotrichosis

5 cases

93346

< 30 cases

Spondyloepimetaphyseal dysplasia congenita, Strudwick type

171866 Spondyloepimetaphyseal dysplasia, aggrecan type

3 cases

168448 Spondyloepimetaphyseal dysplasia, Bieganski type

3 cases

2 families 4 cases

168454 Spondyloepimetaphyseal dysplasia, Geneviève type

2 cases

Spastic paraplegia - nephritis - deafness

2826

Spastic paraplegia - precocious puberty

2 cases

93356

14 cases

99015

Spastic paraplegia type 2

< 100 cases

Spondyloepimetaphyseal dysplasia, Missouri type

93282

17 cases

3011

Spastic tetraplegia - retinitis pigmentosa intellectual disability

2 cases

Spondyloepimetaphyseal dysplasia, Pakistani type

93352

4 cases

3175

Spasticity - intellectual disability - X-linked epilepsy

6 cases

Spondyloepimetaphyseal dysplasia, Shohat type

94068

Spondyloepiphyseal dysplasia congenita

73245

Spinal muscular atrophy - Dandy-Walker malformation - cataracts

98755

Spinocerebellar ataxia type 1

98762

Spinocerebellar ataxia type 12

98768

3 cases

163673 Spondyloepiphyseal dysplasia, Byers type

4 cases

163654 Spondyloepiphyseal dysplasia, Cantu type

4 cases

40 families

93283

1 family

< 20 cases

163668 Spondyloepiphyseal dysplasia, MacDermot type

4 cases

163649 Spondyloepiphyseal dysplasia, Nishimura type

4 cases

93280

< 20 cases

2 cases 1.5

Spinocerebellar ataxia type 13

98763

Spinocerebellar ataxia type 14

> 20 families

98770

Spinocerebellar ataxia type 16

< 80 cases

98759

Spinocerebellar ataxia type 17

< 100 families

98771

Spinocerebellar ataxia type 18

26 cases

98772

Spinocerebellar ataxia type 19/22

12 cases

98756

Spinocerebellar ataxia type 2

1.5

101110 Spinocerebellar ataxia type 20

< 20 cases

98773

< 20 cases

Spinocerebellar ataxia type 21

1**

163665 Spondyloepiphyseal dysplasia tarda, Kohn type

Spondyloepiphyseal dysplasia, Kimberley type

Spondyloepiphyseal dysplasia, Omani type

163662 Spondyloepiphyseal dysplasia, Reardon type 254

Spondylometaphyseal dysplasia

1 family 1

168552 Spondylometaphyseal dysplasia - bowed forearms - facial dysmorphism

2 cases

85167

Spondylometaphyseal dysplasia - cone-rod dystrophy

8 cases

50816

Spondylometaphyseal dysplasia with combined immunodeficiency

4 cases

168555 Spondylometaphyseal dysplasia, A4 type

2 cases

93315

< 30 cases

Spondylometaphyseal dysplasia, 'corner fracture' type

101108 Spinocerebellar ataxia type 23

4 families

101111 Spinocerebellar ataxia type 25

< 10 cases

168544 Spondylometaphyseal dysplasia, Golden type

3 cases

98764

< 30 cases

93316

Spondylometaphyseal dysplasia, Schmidt type

6 cases

< 50 cases

93317

Spondylometaphyseal dysplasia, Sedaghatian type

9 cases

29822

Spontaneous periodic hypothermia

> 50 cases

Spinocerebellar ataxia type 27

208513 Spinocerebellar ataxia type 29 98757

Spinocerebellar ataxia type 3

211017 Spinocerebellar ataxia type 30

1.5 6 cases

* Lifetime prevalence

26

** Prevalence at birth

Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - May 2014 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf

Prevalence of rare diseases: Bibliographic data - Listed in alphabetical order of disease or group of diseases

Number of Estimated published prevalence cases or (/100,000) families

ORPHA Disease or group of diseases Number 826

Sporotrichosis

55 cases

67037

Squamous cell carcinoma of head and neck

49

140917 Stapes ankylosis with broad thumbs and toes

6 families

ORPHA Disease or group of diseases Number

Number of Estimated published prevalence cases or (/100,000) families

85414

Systemic-onset juvenile idiopathic arthritis

5

3287

Takayasu arteritis

0.6

50809

Talo-patello-scaphoid osteolysis

2 cases

827

Stargardt disease

10

31150

Tangier disease

100 cases

273

Steinert myotonic dystrophy

4.5

2731

Taurodontia - absent teeth - sparse hair

< 15 cases

845

Tay-Sachs disease

0.3**

86872

T-cell large granular lymphocyte leukemia

1

210115 Sterile multifocal osteomyelitis with periostitis and pustulosis

10 cases

2017

Sternal cleft

2**

3194

Stern-Lubinsky-Durrie syndrome

7 cases

3291

Teebi-Shaltout syndrome

2 cases

3196

Steroid dehydrogenase deficiency - dental anomalies

1 family

1777

Temtamy syndrome

3 cases

88630

Stickler syndrome

0.5**

Terminal osseous dysplasia - pigmentary defects

18 cases

828 3198

Stiff person syndrome

0.1

842

Testicular seminomatous germ cell tumor

46.01*

3199

Stimmler syndrome

2 cases

3303

Tetralogy of Fallot

29.3**

3200

Stoll-Alembik-Finck syndrome

2 cases

3312

Thalidomide embryopathy

0.77**

3204

Stormorken-Sjaastad-Langslet syndrome

6 cases

2655

Thanatophoric dysplasia

3.5**

49827

Thiamine-responsive megaloblastic anemia syndrome

2405

Thickened earlobes - conductive deafness

614

Thomsen and Becker disease

3317

Thoracolaryngopelvic dysplasia

3320

Thrombocytopenia - absent radius

3323

Thrombocytopenia - Robin sequence

54057

Thrombotic thrombocytopenic purpura

1078

Thumb stiffness - brachydactyly - intellectual disability

6 cases

3326

Thymic-renal-anal-lung dysplasia

3 cases

99867

Thymoma

3327

Thyrocerebrorenal syndrome

95712

Thyroid ectopia

14.2

95719

Thyroid hemiagenesis

25

137599 Stromal keratitis

16

3205

0.4**

Sturge-Weber syndrome

166277 Suarez-Stickler syndrome

3 cases

48377

Subcorneal pustular dermatosis

200 cases

936

Succinic acidemia

50 cases

832

Succinyl-CoA:3-ketoacid CoA transferase deficiency

33 cases

168593 Sudden infant death - dysgenesis of the testes

21 cases

3210

3 cases

Summitt syndrome

455

Superficial epidermolytic ichthyosis

< 20 cases

46485

Superficial pemphigus

1.2

3193

Supravalvular aortic stenosis

12.5

838

Susac syndrome

304 cases

3243

Sweet syndrome

> 100 cases

< 80 cases 2 families 5 < 10 cases 0.2** 2 cases 25.5

1.22* 2 cases

1314

Symmetrical thalamic calcifications

29 cases

95720

Thyroid hypoplasia

3.5

3246

Symphalangism with multiple anomalies of hands and feet

6 cases

3329

Tibial aplasia - ectrodactyly

0.1

93322

Tibial hemimelia

0.1

609

Tibial muscular dystrophy

6

42665

Tietz syndrome

1 family

3336

Tomé-Brunet-Fardeau syndrome

4 cases

3460

Torg-Winchester syndrome

12 cases

3338

Toriello-Carey syndrome

> 60 cases

3339

Toriello-Lacassie-Droste syndrome

10 cases

3341

Torticollis - keloids - cryptorchidism - renal dysplasia

7 cases

857

Townes-Brocks syndrome

0.4**

95455

Toxic epidermal necrolysis

0.2

3346

Tracheal agenesis

2**

140952 Syndactyly - telecanthus - anogenital and renal malformations 93402

Syndactyly type 1

93405

Syndactyly type 4

6 cases 25 4 cases

178364 Syndromic microphthalmia type 5

20 cases

85274

Syndromic X-linked intellectual disability 7

10 cases

85279

Syndromic X-linked intellectual disability due to JARID1C mutation

< 10 families

3262

Syngnathia multiple anomalies

2 cases

3280

Syringomyelia

188

Systemic capillary leak syndrome

8.4 < 150 cases

2467

Systemic mastocytosis

3.3

90291

Systemic sclerosis

25

101028 Transaldolase deficiency

7 cases

Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - May 2014 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf

27

* Lifetime prevalence

** Prevalence at birth

Prevalence of rare diseases: Bibliographic data - Listed in alphabetical order of disease or group of diseases

ORPHA Disease or group of diseases Number

Number of Estimated published prevalence cases or (/100,000) families

ORPHA Disease or group of diseases Number

56970

0.3

3408

216675 Transposition of the great arteries

32.5

210128 Urocanic aciduria

861

Treacher-Collins syndrome

2

886

3349

Treft-Sanborn-Carey syndrome

23 cases

231169 Usher syndrome type 1

1.5

3351

Trichodental syndrome

30 cases

79129

Trichodysplasia - amelogenesis imperfecta

1 family

3362

Trichomegaly - cataract - hereditary spherocytosis

2 cases

3363

Trichomegaly - retina pigmentary degeneration - dwarfism

11 cases

3355

Tricho-odonto-onychial dysplasia

4 cases

1264

Tricho-retino-dento-digital syndrome

9 cases

77258

Trichorhinophalangeal syndrome type 1 and 3

> 100 cases

1209

Tricuspid atresia

Transmissible spongiform encephalopathy

5.2**

3368

Trigonocephaly - bifid nose - acral anomalies

2 cases

3365

Trigonocephaly - broad thumbs

2 cases

3369

Trigonocephaly - short stature - developmental delay

3 cases

868

Triose phosphate-isomerase deficiency

< 50 cases

2947

Triphalangeal thumbs - brachyectrodactyly

4 families

869

Triple A syndrome

< 100 cases

171929 Trisomy 10p

50 cases

1699

Trisomy 12p

2**

3378

Trisomy 13

3.7**

3380

Trisomy 18

8.6**

1752

Trisomy 8q

3375

Trisomy X

42.5

88629

Tritanopia

4.8

3389

Tuberculosis

20

805

Tuberous sclerosis

8.8

73224

Tubular renal disease - cardiomyopathy

2 cases

1063

Tufted angioma

> 200 cases

> 30 cases

881

Turner syndrome

20

882

Tyrosinemia type 1

0.05

28378

Tyrosinemia type 2

< 150 cases

3403

Uhl anomaly

84 cases

3404

Ulbright-Hodes syndrome

3 cases

52056

Ulnar/fibula ray defect - brachydactyly

1 family

3138

Ulnar-mammary syndrome

< 10 families

3405

Umbilical cord ulceration - intestinal atresia

15 cases

308

Unverricht-Lundborg disease

Number of Estimated published prevalence cases or (/100,000) families

Upington disease

1 family 4 cases

Usher syndrome

4.8

1473

Uveal coloboma - cleft lip and palate intellectual disability

98715

Uveitis

38

178338 UV-sensitive syndrome

7 cases

3412

VACTERL with hydrocephalus

< 10 families

3417

Van den Bosch syndrome

888

Van der Woude syndrome

1.7

52759

Vasculitis

6.3

70476

Vernal keratoconjunctivitis

21

1493

Vici syndrome

8 cases

73246

Visceral neuropathy - brain anomalies - facial dysmorphism - developmental delay

2 cases

28

Vitamin acidemia

B12-responsive

methylmalonic

192 cases

79310

Vitamin B12-responsive acidemia type cblA

methylmalonic

60 cases

892

Von Hippel-Lindau disease

1.1

903

Von Willebrand disease

12.5

83453

Vulvovaginal gingival syndrome

2804

W syndrome

3440

Waardenburg syndrome

897

Waardenburg-Shah syndrome

899

Walker-Warburg syndrome

3447

Weaver syndrome

30 cases

3448

Weaver-Williams syndrome

> 30 cases

3449

Weill-Marchesani syndrome

901

Wells syndrome

902

Werner syndrome

0.45

3451

West syndrome

3.7**

83593

Western equine encephalitis

> 600 cases

51636

WHIM syndrome

40 cases

3455

Wiedemann-Rautenstrauch syndrome

904

Williams syndrome

1.8**

905

Wilson disease

6

3459

Wilson-Turner syndrome

906

Wiskott-Aldrich syndrome

1667

Wolcott-Rallison syndrome

1 family

> 380 cases 6 cases 2.4 50 cases 1.65**

1 80 cases

25 cases

> 14 cases 0.1 < 60 cases

0.2 * Lifetime prevalence

28

12 cases

** Prevalence at birth

Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - May 2014 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf

Prevalence of rare diseases: Bibliographic data - Listed in alphabetical order of disease or group of diseases

ORPHA Disease or group of diseases Number

Number of Estimated published prevalence cases or (/100,000) families

280

Wolf-Hirschhorn syndrome

2**

3463

Wolfram syndrome

0.13

1409

Woolly hair - hypotrichosis - everted lower lip - outstanding ears

1 family

65282

Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome

< 20 cases

3465

Worster-Drought syndrome

2834

Wrinkly skin syndrome

910

Xeroderma pigmentosum

3469

XK aprosencephaly

3.7 < 30 cases 0.23** < 10 cases

43

X-linked adrenoleukodystrophy

3.5

47

X-linked agammaglobulinemia

0.1

64747

X-linked Charcot-Marie-Tooth disease

1.6

1497

X-linked complicated dysgenesis

callosum

11 cases

90001

X-linked cone dysfunction syndrome with myopia

< 10 families

X-linked creatine transporter deficiency

> 101 cases

52503

corpus

1018

X-linked diffuse leiomyomatosis - Alport 0.1 syndrome

75497

X-linked Ehlers-Danlos syndrome

ORPHA Disease or group of diseases Number

Number of Estimated published prevalence cases or (/100,000) families

178461 X-linked myopathy with postural muscle atrophy

1 family

85334

X-linked neurodegenerative syndrome, Bertini type

7 cases

85336

X-linked neurodegenerative syndrome, Hamel type

10 cases

83648

X-linked recessive intellectual disability macrocephaly - ciliary dysfunction

1 family

54

X-linked recessive ocular albinism

0.8

792

X-linked retinoschisis

5

86788

X-linked severe congenital neutropenia

45 cases

75563

X-linked sideroblastic anemia

< 200 cases

2802

X-linked sideroblastic anemia - ataxia

5 families

100997 X-linked spastic paraplegia type 16

1 family

171607 X-linked spastic paraplegia type 34

24 cases

85297

X-linked spinocerebellar ataxia type 3

2828

Young adult-onset Parkinsonism

5 cases

97240

Zebra body myopathy

< 10 cases

50812

Zellweger-like syndrome without peroxisomal anomalies

2 cases

15

2 families

139583 X-linked hereditary sensory and autonomic neuropathy with deafness

1 family

89936

X-linked hypophosphatemia

2571

X-linked immunoneurologic disorder

5 5 cases

85338

X-linked intellectual disability - ataxia - apraxia

9 cases

163982 X-linked intellectual disability - spastic quadriparesis

9 cases

67045

3 families

X-linked intellectual disability with isolated growth hormone deficiency

163971 X-linked intellectual disability, Cilliers type

4 cases

163937 X-linked intellectual disability, Najm type

35 families

85326

4 cases

X-linked intellectual disability, Stoll type

163976 X-linked intellectual disability, Van Esch type

7 cases

2442

X-linked lymphoproliferative disease

0.05

1131

X-linked mandibulofacial dysostosis

7 cases

25980

X-linked myopathy with excessive autophagy

15 families

For any questions or comments, please contact us: [email protected] Editor-in-chief: Ana Rath  Editor of the report : Natacha Marpillat  Visual design : Julie Christ The correct form when quoting this document is : « Prevalence of rare diseases: Bibliographic data », Orphanet Report Series, Rare Diseases collection, May 2014, Number 1 : Listed in alphabetical order of disease or group of diseases, http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf

* Lifetime prevalence

** Prevalence at birth

Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - May 2014 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf

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