|
1263
Boomerang dysplasia
10 Cases
127
Borjeson-Forssman-Lehmann
syndrome
50 Cases
69737
Bosley-Salih-Alorainy syndrome
16 Cases
1267
Botulism
0.02 I *
3331
Bowed tibiae-radial anomalies-
osteopenia-fractures syndrome
2 Cases
1270
Bowen-Conradi syndrome
60 Cases
93389
Brachydactyly type A5
2 Families
93382
Brachydactyly type A6
7 Cases
93397
Brachydactyly type A7
1 Family
1276
Brachydactyly-arterial
hypertension syndrome
10 Families
1275
Brachydactyly-elbow wrist
dysplasia syndrome
4 Families
2946
Brachydactyly-long thumb
syndrome
4 Cases
1246
Brachydactyly-nystagmus-
cerebellar ataxia syndrome
1 Family
1278
Brachydactyly-preaxial hallux
varus syndrome
8 Cases
93409
Brachydactyly-syndactyly, Zhao
type
2 Families
1292
Brachymorphism-
onychodysplasia-dysphalangism
syndrome
9 Cases
1293
Brachyolmia
100 Cases
1295
Brachytelephalangy-
dysmorphism-Kallmann
syndrome
2 Cases
52047
Braddock syndrome
2 Cases
75374
Bradyopsia
5 Cases
178506
Brain calcification, Rajab type
8 Cases
168598
Brain demyelination due to
methionine adenosyltransferase
deficiency
2 Cases
352649
Brain dopamine-serotonin
vesicular transport disease
8 Cases
75389
Brain malformation-congenital
heart disease-postaxial
polydactyly syndrome
2 Cases
209905
Brain-lung-thyroid syndrome
20 Cases
1297
Branchio-oculo-facial syndrome
50 Cases
1299
Branchio-skeleto-genital
syndrome
3 Cases
Without specification, published figures are worldwide. An asterisk * indicates European data.
P indicates prevalence data, I indicates incidence data and BP indicates birth prevalence
Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - November 2016 - Number 1
http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf
15
ORPHA
Number
Disease
or Group of diseases
Estimated
prevalence/incidence
(/100,000)
Number of
published
cases or
families
50815
Branchiogenic deafness
syndrome
5 Cases
85284
BRESEK syndrome
5 Cases
90354
Brittle cornea syndrome
65 Cases
70589
Bronchopulmonary dysplasia
13.0 P *
79493
Brooke-Spiegler syndrome
100 Cases
1304
Brucellosis
0.07 I *
2771
Bruck syndrome
60 Cases
130
Brugada syndrome
20.0 P *
131
Budd-Chiari syndrome
1.5 P *
36258
Buerger disease
16.0 P
280785
Bullous diffuse cutaneous
mastocytosis
40 Cases
1867
Bullous dystrophy, macular
type
2 Families
46489
Bullous systemic lupus
erythematosus
70 Cases
543
Burkitt lymphoma
0.17 I *
1306
Buschke-Ollendorff syndrome
5.0 I
1308
C syndrome
0.11 P *
135
CACH syndrome
148 Cases
448010
CAD-CDG
1 Case
136
CADASIL
3.0 P *
369942
CADDS
4 Cases
1310
Caffey disease
100 Cases
280062
Calciphylaxis
5.0 P *
85192
Calvarial doughnut lesions-
bone fragility syndrome
20 Cases
83472
CAMOS syndrome
5 Cases
1318
Campomelia, Cumming type
8 Cases
140
Campomelic dysplasia
0.33 BP *
1319
Camptobrachydactyly
1 Family
1327
Camptodactyly syndrome,
Guadalajara type 1
8 Cases
1326
Camptodactyly syndrome,
Guadalajara type 2
2 Cases
2848
Camptodactyly-arthropathy-
coxa-vara-pericarditis syndrome
30 Families
1321
Camptodactyly-fibrous tissue
hyperplasia-skeletal dysplasia
syndrome
3 Cases
1323
Camptodactyly-joint
contractures-facial skeletal
defects syndrome
4 Cases
85164
Camptodactyly-tall stature-
scoliosis-hearing loss syndrome
30 Cases
1325
Camptodactyly-taurinuria
syndrome
17 Cases
1328
Camurati-Engelmann disease
300 Cases
ORPHA
Number
Disease
or Group of diseases
Estimated
prevalence/incidence
(/100,000)
Number of
published
cases or
families
141
Canavan disease
1.0 BP
325004
CANDLE syndrome
10 Cases
171881
Cap myopathy
10 Cases
160148
Cap polyposis
67 Cases
137667
Capillary malformation-
arteriovenous malformation
syndrome
261 Cases
147
Carbamoyl-phosphate
synthetase 1 deficiency
0.31 P
70482
Carcinoma of esophagus
9.8 P
70482
Carcinoma of esophagus
7.0 I
56044
Carcinoma of gallbladder and
extrahepatic biliary tract
12.0 I
369891
Cardiac anomalies-
developmental delay-facial
dysmorphism syndrome
4 Cases
137628
Cardiac anomalies-heterotaxy
syndrome
9 Cases
2872
Cardiocranial syndrome,
Pfeiffer type
10 Cases
37553
Cardiodysrhythmic potassium-
sensitive periodic paralysis
0.1 I *
1340
Cardiofaciocutaneous
syndrome
300 Cases
97292
Cardiogenic shock
40.0 P *
1345
Cardiomyopathy-cataract-hip
spine disease syndrome
9 Cases
91130
Cardiomyopathy-hypotonia-
lactic acidosis syndrome
2 Cases
90022
Cardiomyopathy-renal
anomalies syndrome
2 Cases
3238
Cardiospondylocarpofacial
syndrome
5 Cases
1358
Carey-Fineman-Ziter syndrome
20 Cases
1359
Carney complex
160 Cases
139411
Carney triad
150 Cases
97286
Carney-Stratakis syndrome
20 Families
156
Carnitine palmitoyl transferase
1A deficiency
50 Cases
228302
Carnitine palmitoyl transferase
II deficiency, myopathic form
300 Cases
228308
Carnitine palmitoyl transferase
II deficiency, neonatal form
18 Cases
228305
Carnitine palmitoyl transferase
II deficiency, severe infantile
form
30 Cases
157
Carnitine palmitoyltransferase
II deficiency
1.0 P *
159
Carnitine-acylcarnitine
translocase deficiency
60 Cases
1361
Carnosinemia
0.2 BP
53035
Caroli disease
0.1 I
65759
Carpenter syndrome
70 Cases
Without specification, published figures are worldwide. An asterisk * indicates European data.
P indicates prevalence data, I indicates incidence data and BP indicates birth prevalence
Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - November 2016 - Number 1
http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf
16
ORPHA
Number
Disease
or Group of diseases
Estimated
prevalence/incidence
(/100,000)
Number of
published
cases or
families
93973
Carpenter-Waziri syndrome
6 Cases
195
Cat-eye syndrome
1.35 BP *
50839
Cat-scratch disease
6.6 P *
1368
Cataract-ataxia-deafness
syndrome
2 Cases
1383
Cataract-deafness-
hypogonadism syndrome
3 Cases
162
Cataract-glaucoma syndrome
3 Families
436174
Cataract-growth hormone
deficiency-sensory neuropathy-
sensorineural hearing loss-
skeletal dysplasia syndrome
3 Cases
1387
Cataract-intellectual disability-
hypogonadism syndrome
20 Cases
1377
Cataract-microcornea
syndrome
8 Families
1380
Cataract-nephropathy-
encephalopathy syndrome
2 Cases
3286
Catecholaminergic polymorphic
ventricular tachycardia
10.0 P *
1388
Catel-Manzke syndrome
33 Cases
86870
CD4+/CD56+ hematodermic
neoplasm
12.0 P *
66631
CEDNIK syndrome
13 Cases
1459
Celiac disease-epilepsy-cerebral
calcification syndrome
170 Cases
3258
Cenani-Lenz syndrome
30 Cases
2431
Central bilateral macrogyria
4 Cases
98972
Central cloudy dystrophy of
Francois
24 Cases
178029
Central diabetes insipidus
4.0 P *
3240
Central nervous system
calcification-deafness-tubular
acidosis-anemia syndrome
2 Cases
73256
Central neurocytoma
500 Cases
411527
Central retinal vein occlusion
28.0 P *
89841
Centripetalis recessive
dystrophic epidermolysis
bullosa
10 Cases
1171
Cerebellar ataxia-areflexia-pes
cavus-optic atrophy-
sensorineural hearing loss
syndrome
10 Cases
2246
Cerebellar hypoplasia-
tapetoretinal degeneration
syndrome
3 Cases
444072
Cerebellar-facial-dental
syndrome
3 Families
46724
Cerebral arteriovenous
malformation
6.0 P *
2081
Cerebral gigantism-jaw cysts
syndrome
10 Cases
329217
Cerebral sinovenous
thrombosis
0.35 I *
ORPHA
Number
Disease
or Group of diseases
Estimated
prevalence/incidence
(/100,000)
Number of
published
cases or
families
1393
Cerebro-costo-mandibular
syndrome
75 Cases
314679
Cerebro-facio-articular
syndrome
9 Cases
1394
Cerebro-facio-thoracic
dysplasia
13 Cases
66625
Cerebro-oculo-nasal syndrome
10 Cases
3421
Cerebroretinal vasculopathy
3 Families
169079
Cernunnos-XLF deficiency
5 Cases
2218
Cervical hypertrichosis-
peripheral neuropathy
syndrome
Dostları ilə paylaş: | 
