July 25, 2017 | Author: Heather White | Category: N/A
Download Prevalence of rare diseases: Bibliographic data...
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]
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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
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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
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
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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
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
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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 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
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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
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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 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
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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
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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
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[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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