Prevalence and incidence of rare diseases: Bibilographic data

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1 1 March 2016 Prevalence and incidence of rare diseases: Bibilographic data Prevalence, incidence or number of cases listed by diseases (in alphabetical order)

2 Methodology Orphanet carries out a systematic survey of literature in order to estimate the prevalence and incidence of rare diseases. This study aims to collect new data regarding point prevalence, birth prevalence and incidence, and to update already data according to new scientific studies or other available data. This data is presented in the following reports biannually: Prevalence, incidence or number of cases listed by diseases (in alphabetical order); s listed by decreasing prevalence, incidence or number of cases. Data collection A number of different sources are used : Registries (RARECARE, EUROCAT, etc) ; National/international health institutes and agencies (Institut National de Veille Sanitaire (French Institute of Health Surveillance); American Center of Control and Prevention, American National Cancer Institute, European Medicines Agency, World Health Organization etc) ; Medline is consulted using the following search algorithm : «names» AND Epidemiology[MeSH:NoExp] OR Incidence[Title/abstract] OR Prevalence[Title/ abstract] OR Epidemiology[Title/abstract]; Medical texts, grey literature and reports from experts ; Orphanet collaborating experts. Data characteristics The data in this document are worldwide estimations, or European estimations if a worldwide estimation is not available. The data is raw collected data or extrapolations of raw data at worldwide or European level when no genetic founder effect is suspected as a cause of a disease. If a range of national data is available, the average is calculated to estimate the worldwide or European prevalence or incidence. When a range of data sources is available, the most recent data source that meets a certain number of quality criteria is favoured (registries, meta-analyses, population-based studies, large cohorts studies). For congenital diseases, the prevalence is estimated, so that: Prevalence = birth prevalence x (patient life expectancy/general population life expectancy). When only incidence data is documented, the prevalence is estimated when possible, so that : Prevalence = incidence x disease mean duration. When neither prevalence nor incidence data is available, which is the case for very rare diseases, the number of documented in the medical literature is provided. Limitations of the study The prevalence and incidence data presented in this report are only estimations and cannot be considered to be absolutely correct. The average values presented in this report do not take into account the heterogeneous nature of the methodologies employed by the studies considered in the literature survey. The validity and exactitude of raw data sources is taken for granted and have not been verified. Thus, confusion between terms such as incidence and prevalence and/or birth prevalence is possible due to the interchangeable use of these terms in certain sources. It is possible that prevalence is overestimated in some cases as epidemiological studies are generally based on hospital data in regions with higher prevalence. Data presentation Without specification, figures are worldwide. An asterisk * indicates European data. P indicates prevalence data I indicates incidence data. BP indicates birth prevalence Without specification, figures are worldwide. An asterisk * indicates European data. Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - March

3 Prevalence, incidence or number of cases listed by diseases (in alphabetical order) 2-aminoadipic 2-oxoadipic aciduria methylbutyryl-CoA dehydrogenase hydroxy-3-methylglutaryl- CoA synthase 3-methylcrotonyl-CoA 6 carboxylase 3-methylglutaconic aciduria type 1 3-methylglutaconic aciduria type BP * of 30 Cases 2 7 3C M 200 Cases MC hydroxybutyric aciduria 450 Cases fluorouracil poisoning 2.0 P * oxoprolinase 46,XX disorder of sex 2975 development - skeletal anomalies 46,XX ovarian dysgenesis-short stature 46,XX ovotesticular disorder of 2138 sex development 46,XX testicular disorder of sex 393 development 46,XY disorder of sex development - adrenal insufficiency due to CYP11A1 46,XY disorder of sex 753 development due to 5-alphareductase 2 46,XY gonadal dysgenesis motor and sensory neuropathy 2.5 BP 2.5 P 8 47,XYY 50.0 BP * ,XXXY 1.0 BP * 10 48,XXYY 1.9 BP * ,XXXXY 0.55 BP * 50 Families ,XXXYY p21.3 microdeletion 1p31p32 microdeletion q21.1 microduplication of q44 microdeletion p13.2 microdeletion 2p15p16.1 microdeletion p21 microdeletion 2p21 microdeletion without cystinuria q23.1 microdeletion 1 2q23.1 microduplication q24 microdeletion 2 2q31.1 microduplication q32q33 microdeletion q33.1 microdeletion q37 microdeletion p25.3 microdeletion 3q26q27 microdeletion q27.3 microdeletion q21 microdeletion 1 5p13 microduplication q14.3 microdeletion 40 Cases 5q35 microduplication p22 microdeletion q terminal deletion q16 deletion q25 microdeletion 7p22.1 microduplication q31 microdeletion p inverted duplication/deletion 3.9 BP * p11.2 deletion 8p23.1 microduplication q12 microduplication q21.11 microdeletion P q22.1 microdeletion p13 microdeletion q21 microdeletion 1 9q31.1q31.3 microdeletion p15.4 microduplication Without specification, figures are worldwide. An asterisk * indicates European data. Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - March

4 11q22.2q22.3 microdeletion p12.1 microdeletion of q14 microdeletion 13q12.3 microdeletion q11.2 microdeletion q11.2 microduplication q12 microdeletion 14q22q23 microdeletion q24.1q24.3 microdeletion q overgrowth 1 15q11.2 microdeletion q11q13 microduplication q13.3 microdeletion Cases 30 Cases q14 microdeletion q24 microdeletion 16p11.2p12.2 microdeletion p13.11 microdeletion p13.11 microduplication q24.1 microdeletion q24.3 microdeletion p13.3 microduplication BP 1 50 Cases q11 microdeletion 170 Cases 17q11.2 microduplication q12 microduplication q21.31 microdeletion q23.1q23.2 microdeletion p13.12 microdeletion p13.13 microdeletion q13.11 microdeletion p12.3 microdeletion P * p13 microdeletion 20q11.2 microdeletion q22.11q22.12 microdeletion q22.13q22.2 microdeletion q11.2 deletion 37.5 BP of 11 Cases AApoAIV amyloidosis 915 Aarskog-Scott 0.4 BP * 916 Aase-Smith ABeta amyloidosis, Dutch type 250 Cases 920 Ablepharon macrostomia Abruzzo-Erickson Absence of fingerprints congenital milia Absence of the pulmonary 980 artery Absent thumb-short statureimmuno 2951 Absent tibia - polydactyly arachnoid cyst 0.5 I * Acanthamoeba keratitis 1.0 P * Acanthosis nigricans - Insulin resistance - muscle cramps - acral enlargement 926 Acatalasemia 3.2 P * Aceruloplasminemia 0.09 P Achalasia - microcephaly 931 Acheiropodia 10 Families 15 Achondroplasia 4.0 BP Achromatopsia 2.7 P Acitretin/etretinate embryopathy Ackerman Acquired aneurysmal subarachnoid hemorrhage 10.0 P * Acquired angioedema 200 Cases Acquired epidermolysis bullosa 0.03 I * Acquired generalized lipodystrophy Acquired hemophilia 0.1 P * Acquired hemophilia 0.08 I Acquired hypertrichosis 2221 lanuginosa Acquired pseudoxanthoma elasticum Acquired von Willebrand Acral dystrophic epidermolysis bullosa 60 Cases 300 Cases 10 Families Without specification, figures are worldwide. An asterisk * indicates European data. Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - March

5 of Acral peeling skin 40 Cases Acral self-healing collodion baby 2008 Acro-cardio-facial 1784 Acro-fronto-facio-nasal dysostosis Acro-pectoral Acro-pectoro-renal dysplasia Acro-renal-mandibular 959 Acro-renal-ocular 20 Families 36 Acrocallosal Acrocephalopolydactyly 949 Acrocraniofacial dysostosis 950 Acrodysostosis 80 Cases Acrodysostosis with multiple hormone resistance Acrofacial dysostosis, Catania 1786 type Acrofacial dysostosis, Kennedy Teebi type Acrofacial dysostosis, Rodríguez 1788 type Acromegaloid facial 965 appearance 963 Acromegaly 5.5 P 963 Acromegaly 0.35 I 40 Cases 39 Acromelanosis Acromesomelic dysplasia, 968 Hunter-Thomson type Acromesomelic dysplasia, 40 Maroteaux type 50 Cases 969 Acromicric dysplasia 60 Cases 955 Acroosteolysis dominant type 80 Cases Acroosteolysis-keloid-like lesions-premature aging 957 Acropectorovertebral dysplasia 30 Cases 971 Acrorenal ACTH-dependent Cushing Action myoclonus-renal failure I Activated PIK3-delta 1 Acute annular outer retinopathy Acute bilateral depigmentation of the iris Acute disseminated encephalomyelitis 0.6 I * 1 Acute encephalopathy with biphasic seizures and late reduced diffusion Acute generalized exanthematous pustulosis Acute infantile liver failure due to synthesis defect of mtdnaencoded proteins Acute infantile liver failuremultisystemic involvement Acute inflammatory demyelinating polyradiculoneuropathy 0.3 I 3.1 P * Acute intermittent porphyria 0.54 P * Acute intermittent porphyria I * Acute interstitial pneumonia 3.8 P * Acute liver failure 20.0 P * Acute lung injury 25.0 I * 513 Acute lymphoblastic leukemia 2.75 I * 514 Acute monoblastic leukemia 0.1 I * 519 Acute myeloid leukemia 2.5 I Acute peripheral arterial occlusion 16.0 P * 520 Acute promyelocytic leukemia 0.11 I * Acute sensorineural hearing loss by acute acoustic trauma or sudden deafness or surgery induced acoustic trauma 37.0 P * Acute transverse myelitis 1.6 I Acute zonal occult outer retinopathy Acyl-CoA dehydrogenase of Cases ACys amyloidosis 9 Families Adamantinoma 0.01 I * Addison disease 12.5 P * 2952 Adducted thumbsarthrogryposis, Christian type Adenocarcinoma of esophagus 0.7 I Adenosine monophosphate 45 deaminase Adenylosuccinate lyase 46 ADNP-related multiple congenital anomaliesintellectual disability-autism spectrum disorder 1501 Adrenocortical carcinoma 0.75 P * 1501 Adrenocortical carcinoma 0.03 I * 3 Families 5 Without specification, figures are worldwide. An asterisk * indicates European data. Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - March

6 2666 Adult familial nephronophthisis - spastic quadriparesia 874 Adult heart tumor I * of Adult intestinal botulism Adult polyglucosan body disease 50 Cases 978 ADULT 1 Adult-onset autosomal dominant leukodystrophy Adult-onset distal myopathy due to VCP mutation Adult-onset dystoniaparkinsonism Adult-onset proximal spinal muscular atrophy, autosomal dominant 0.1 P * Agammaglobulinemia 0.13 P * Agammaglobulinemiamicrocephaly-craniosynostosissevere dermatitis 20 Families AGel amyloidosis 47 Agenesis of the corpus callosum-intellectual disabilitycoloboma-micrognathia Aggressive systemic mastocytosis AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism 0.33 P * AICA-ribosiduria 1 Case 51 Aicardi-Goutières AIDS wasting 20.0 P * AKT2-related familial partial lipodystrophy AL amyloidosis 11.0 P * Alacrimia-choreoathetosis-liver dysfunction 52 Alagille 0.4 BP * Åland Islands eye disease 5 Families 2007 Alar cartilages hypoplasiacoloboma-telecanthus 53 Albers-Schönberg osteopetrosis 1.0 P 998 Albinism-deafness ALDH18A1-related De Barsy Aldosterone-producing adenoma with seizures and neurological abnormalities ALG1-CDG ALG2-CDG 1 Case of ALG3-CDG ALG6-CDG ALG8-CDG ALG9-CDG ALG11-CDG ALG12-CDG 11 Cases ALG13-CDG 1 Case 59 Allan-Herndon-Dudley 700 Alopecia totalis 10.5 P * 701 Alopecia universalis 25.0 P * Alopecia-contracturesdwarfism-intellectual disability Alopecia-epilepsy-pyorrheaintellectual disability Alopecia-intellectual disabilityhypergonadotropic 1014 hypogonadism 726 Alpers-Huttenlocher 0.07 P * 726 Alpers-Huttenlocher 0.7 BP * 60 Alpha-1-antitrypsin 20.0 P * Alpha-heavy chain disease 400 Cases 61 Alpha-mannosidosis 0.1 P * Alpha-Nacetylgalactosaminidase 3137 Alpha-Nacetylgalactosaminidase type 1 Alpha-Nacetylgalactosaminidase type 2 Alpha-Nacetylgalactosaminidase type 3 Alpha-thalassemia-intellectual disability linked to chromosome Alpha-thalassemiamyelodysplastic Alpha-thalassemia-X-linked 847 intellectual disability 63 Alport 2.0 P * Alport -intellectual disability-midface hypoplasiaelliptocytosis 80 Cases 200 Cases 2 Families 64 Alström 950 Cases 2131 Alternating hemiplegia of childhood 0.9 BP * 284 Alveolar echinococcosis 0.16 I * Without specification, figures are worldwide. An asterisk * indicates European data. Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - March

7 of ALys amyloidosis 7 Families 1021 Amaurosis-hypertrichosis Ameloblastic carcinoma 40 Cases Amelogenesis imperfectagingival hyperplasia Amelogenesis imperfectanephrocalcinosis Aminopterin/methotrexate embryofetopathy 1034 Amniotic bands 2.5 BP * 803 Amyotrophic lateral sclerosis 3.85 P 803 Amyotrophic lateral sclerosis 1.35 I Amyotrophic lateral sclerosis type Anal fistula 23.0 P * Anaplastic large cell lymphoma 2.0 P * 142 Anaplastic thyroid carcinoma 0.1 P * 142 Anaplastic thyroid carcinoma 0.17 I * 11 Cases 1 70 Cases ANE Aneurysm-osteoarthritis Angel-shaped phalangoepiphyseal dysplasia 72 Angelman 7.5 P 72 Angelman 1.1 BP * Angiocentric glioma Angioosteohypertrophic 0.8 BP * Angora hair nevus Anhidrotic ectodermal dysplasia-immunoosteopetrosis-lymphedema 77 Aniridia 1.75 P 77 Aniridia 1.3 I * Aniridia - ptosis - intellectual 1067 disability - familial obesity Aniridia - renal agenesis psychomotor retardation Aniridia-absent patella 1069 Aniridia-cerebellar ataxiaintellectual disability 1065 Aniridia-intellectual disability Anisakiasis 0.32 I Ankyloblepharon filiforme imperforate anus Ankylosing vertebral 2206 hyperostosis with tylosis 30 Cases 3 Families of Annular atrophic lichen planus Annular epidermolytic ichthyosis 675 Annular pancreas 1.8 BP * 7 Families 1094 Anonychia - microcephaly Anonychia - onychodystrophy 1 Anonychia with flexural pigmentation Anophthalmia - megalocornea cardiopathy - skeletal anomalies Anophthalmia - microphthalmia 8.3 BP * 1104 Anophthalmia plus Anophthalmia/microphthalmia - esophageal atresia Anotia BP * 2987 Antecubital pterygium Anthracycline extravasations 0.3 P * 375 Anti-glomerular basement membrane disease 0.08 I * 81 Antisynthetase 3.5 P 30 Cases 11 Cases 83 Antley-Bixler Aorta coarctation 35.6 BP * 1110 Aortic arch anomaly - peculiar facies - intellectual disability 2299 Aortic arch interruption 0.3 BP * 3400 Aorto-ventricular tunnel 130 Cases Aphalangy - hemivertebrae urogenital-intestinal dysgenesis Aphalangy - syndactyly microcephaly Aphonia - deafness - retinal dystrophy - bifid halluces - intellectual disability 1117 Aplasia cutis - myopia 1114 Aplasia cutis congenita 10.0 BP 1116 Aplasia cutis congenita - intestinal lymphangiectasia Apnea of prematurity 8.5 P * 425 Apolipoprotein A-I 30 Families Arachnodactyly - abnormal ossification - intellectual disability Arachnodactyly - intellectual disability - dysmorphism 1133 AREDYLD 23 Argininosuccinic aciduria 0.5 P * 23 Argininosuccinic aciduria 0.46 BP 91 Aromatase Without specification, figures are worldwide. An asterisk * indicates European data. Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - March

8 35708 Aromatic L-amino acid decarboxylase of 1134 Arrhinia Arrhinia - choanal atresia microphthalmia Arrhythmogenic right 247 ventricular cardiomyopathy 20.0 P 1682 Arterial dissection - lentiginosis 3342 Arterial tortuosity 80 Cases 1485 Arthrogryposis - hyperkeratosis, lethal form Arthrogryposis - renal 2697 dysfunction - cholestasis Arthrogryposis multiplex 1037 congenita Arthrogryposis multiplex 1150 congenita - whistling face Arthrogryposis-like hand 1144 anomaly - sensorineural deafness 5.7 BP * 1253 Ascher 50 Cases Astley-Kendall dysplasia Astroblastoma 0.02 I * 94 Astrocytoma 2.5 P * 94 Astrocytoma 8.0 I * 96 Ataxia with vitamin E 0.33 P * 1188 Ataxia-deafness-intellectual disability Ataxia-intellectual disabilityoculomotor apraxia-cerebellar cysts 100 Ataxia-telangiectasia 0.49 P * 1190 Atelosteogenesis type I Atelosteogenesis type II Atelosteogenesis type III 2 Athabaskan brainstem dysgenesis Atherosclerosis - deafness diabetes - epilepsy - nephropathy Athyreosis 3.5 P * 1193 Atkin-Flaitz Atopic keratoconjunctivitis 15.0 P * 1201 Atresia of small intestine 16.0 BP * Atrial septal defect atrioventricular conduction defects Atrial tachyarrhythmia with 844 short PR interval Attenuated Chédiak-Higashi Cases Atypical coarctation of aorta 0.17 BP * Atypical dentin dysplasia due to SMOC2 Atypical glycine encephalopathy Atypical hemolytic-uremic 2134 Atypical hemolytic-uremic with DGKE Atypical hypotonia - cystinuria P * of Atypical juvenile parkinsonism 6 Families Atypical lichen myxedematosus Atypical Meigs Auricular abnormalities - cleft lip with or without cleft palate - ocular abnormalities Auriculocondylar 50 Cases Auriculoocular anomalies - cleft lip 114 Auriculoosteodysplasia 2 Families Autism - facial port-wine stain Autism spectrum disorder due to AUTS2 Autism spectrum disorderepilepsy-arthrogryposis Autism-epilepsy due to branched chain ketoacid dehydrogenase kinase Autoerythrocyte sensitization Autoimmune encephalopathy with parasomnia and obstructive sleep apnea Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections Autoimmune hemolytic anemia 2.02 I * Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immuno Autoimmune interstitial lung disease-arthritis 3261 Autoimmune lymphoproliferative Autoimmune lymphoproliferative due to CTLA4 haploinsuffiency Autoimmune lymphoproliferative with recurrent viral infections Autoimmune necrotizing myopathy 5 Families 170 Cases 5 Families 500 Cases Cases Without specification, figures are worldwide. An asterisk * indicates European data. Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - March

9 Autoimmune pulmonary 747 alveolar proteinosis Autoimmune pulmonary 747 alveolar proteinosis Autoinflammation-PLCG associated antibody immune dysregulation Autoinflammatory with pyogenic bacterial infection and amylopectinosis Autosomal agammaglobulinemia Autosomal dominant aplasia and myelodysplasia Autosomal dominant cerebellar 99 ataxia Autosomal dominant cerebellar ataxia, deafness and narcolepsy Autosomal dominant Charcot Marie-Tooth disease type 2 due to TFG mutation Autosomal dominant Charcot Marie-Tooth disease type 2 due to VCP mutation Autosomal dominant Charcot Marie-Tooth disease type 2 with giant axons Autosomal dominant Charcot Marie-Tooth disease type 2F Autosomal dominant Charcot Marie-Tooth disease type 2G Autosomal dominant Charcot Marie-Tooth disease type 2K Autosomal dominant Charcot Marie-Tooth disease type 2L Autosomal dominant Charcot Marie-Tooth disease type 2M Autosomal dominant Charcot Marie-Tooth disease type 2N Autosomal dominant Charcot Marie-Tooth disease type 2Q Autosomal dominant Charcot Marie-Tooth disease type 2U Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures 0.5 P 0.04 I 2.7 P of 2 3 Families 5 Families 3 Families Autosomal dominant cutis laxa 50 Cases Autosomal dominant deafnessonychodystrophy Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures Autosomal dominant focal dystonia, DYT25 Autosomal dominant focal nonepidermolytic palmoplantar keratoderma with plantar blistering Cases Autosomal dominant hyper-ige 2314 Autosomal dominant 1810 hypohidrotic ectodermal dysplasia Autosomal dominant hypophosphatemic rickets Autosomal dominant intermediate Charcot-Marie- Tooth disease type E Autosomal dominant intermediate Charcot-Marie- Tooth disease type F Autosomal dominant intermediate Charcot-Marie Tooth disease with neuropathic pain Autosomal dominant Larsen 503 Autosomal dominant limbgirdle muscular dystrophy type 266 1A Autosomal dominant limbgirdle muscular dystrophy type D Autosomal dominant limbgirdle muscular dystrophy type E Autosomal dominant limbgirdle muscular dystrophy type F Autosomal dominant limbgirdle muscular dystrophy type G Autosomal dominant limbgirdle muscular dystrophy type H Autosomal dominant macrothrombocytopenia Autosomal dominant medullary cystic kidney disease with or without hyperuricemia Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 Autosomal dominant multiple pterygium Autosomal dominant myopiamidfacial retrusionsensorineural hearing loss rhizomelic dysplasia Autosomal dominant neovascular inflammatory vitreoretinopathy 0.1 I * 0.4 BP * 0.11 P * of 40 Cases 21 Cases 2 Families 5 Families 5 Families 2 Families 11 Cases 70 Cases 9 Without specification, figures are worldwide. An asterisk * indicates European data. Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - March

10 Autosomal dominant nocturnal frontal lobe epilepsy Autosomal dominant optic atrophy Autosomal dominant optic atrophy and cataract Autosomal dominant optic 1215 atrophy plus Autosomal dominant 2783 osteopetrosis type 1 Autosomal dominant 1010 palmoplantar keratoderma and congenital alopecia Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis Autosomal dominant popliteal 1300 pterygium Autosomal dominant primary hypomagnesemia with hypocalciuria Autosomal dominant proximal renal tubular acidosis Autosomal dominant rhegmatogenous retinal detachment Autosomal dominant Robinow 3107 Autosomal dominant spastic paraplegia type 6 Autosomal dominant spastic paraplegia type 8 Autosomal dominant spastic paraplegia type 9 Autosomal dominant spastic paraplegia type 10 Autosomal dominant spastic paraplegia type 12 Autosomal dominant spastic paraplegia type 13 Autosomal dominant spastic paraplegia type 17 Autosomal dominant spastic paraplegia type 19 Autosomal dominant spastic paraplegia type 29 Autosomal dominant spastic paraplegia type 37 Autosomal dominant spastic paraplegia type 38 Autosomal dominant spastic paraplegia type 73 Autosomal dominant striatal neurodegeneration Autosomal dominant 3086 vitreoretinochoroidopathy Autosomal erythropoietic protoporphyria 3.3 P 0.4 P * 0.3 P 0.92 P * of 100 Families 3 Families 3 30 Cases Families 10 Families 7 Families 10 Families 10 Families 10 Families 20 Families Autosomal erythropoietic protoporphyria I * of 1027 Autosomal recessive amelia Autosomal recessive ataxia due to PEX10 Autosomal recessive ataxia due to ubiquinone Autosomal recessive ataxia, Beauce type Autosomal recessive axonal neuropathy with neuromyotonia Autosomal recessive bestrophinopathy Autosomal recessive cerebellar 1172 ataxia Autosomal recessive cerebellar ataxia - blindness - deafness Autosomal recessive cerebellar ataxia - saccadic intrusion Autosomal recessive cerebellar ataxia due to STUB1 Autosomal recessive cerebellar ataxia with late-onset spasticity Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability due to KIAA0226 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability due to TUD Autosomal recessive cerebral atrophy Autosomal recessive congenital cerebellar ataxia due to GRID2 Autosomal recessive congenital cerebellar ataxia due to MGLUR1 Autosomal recessive congenital ichthyosis Autosomal recessive cutis laxa type 1 Autosomal recessive cutis laxa type 2 Autosomal recessive doparesponsive dystonia Autosomal recessive earlyonset inflammatory bowel disease Autosomal recessive faciodigito-genital 1974 Autosomal recessive frontotemporal pachygyria Autosomal recessive infantile hypercalcemia 3.3 P 0.5 P * 31 Cases 5 33 Families 3 Families 10 Families 60 Cases 40 Cases 50 Cases 80 Cases 1 1 Without specification, figures are worldwide. An asterisk * indicates European data. Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - March

11 Autosomal recessive intermediate Charcot-Marie- Tooth disease type A Autosomal recessive intermediate Charcot-Marie- Tooth disease type B Autosomal recessive intermediate Charcot-Marie- Tooth disease type C Autosomal recessive intermediate Charcot-Marie- Tooth disease type D Autosomal recessive isolated optic atrophy Autosomal recessive leukoencephalopathy with ischemic stroke-retinitis pigmentosa Autosomal recessive limb-girdle 267 muscular dystrophy type 2A Autosomal recessive limb-girdle 353 muscular dystrophy type 2C Autosomal recessive limb-girdle 119 muscular dystrophy type 2E Autosomal recessive limb-girdle 219 muscular dystrophy type 2F Autosomal recessive limb-girdle muscular dystrophy type 2G Autosomal recessive limb-girdle muscular dystrophy type 2I Autosomal recessive limb-girdle muscular dystrophy type 2L Autosomal recessive limb-girdle muscular dystrophy type 2M Autosomal recessive limb-girdle muscular dystrophy type 2P Autosomal recessive limb-girdle muscular dystrophy type 2Q Autosomal recessive limb-girdle muscular dystrophy type 2R Autosomal recessive limb-girdle muscular dystrophy type 2S Autosomal recessive limb-girdle muscular dystrophy type 2T Autosomal recessive limb-girdle muscular dystrophy type 2U Autosomal recessive lower motor neuron disease with childhood onset Autosomal recessive lymphoproliferative disease Autosomal recessive malignant 667 osteopetrosis Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 1.0 P * 0.2 P * 0.1 P * 0.3 P * 1.0 P * 0.75 BP * of 8 Families 1 Case Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 Autosomal recessive nail dysplasia Autosomal recessive omodysplasia Autosomal recessive 1366 palmoplantar keratoderma and congenital alopecia Autosomal recessive polycystic 731 kidney disease Autosomal recessive primary immuno with defective spontaneous natural killer cell cytotoxicity Autosomal recessive Robinow 1507 Autosomal recessive severe congenital neutropenia due to CSF3R Autosomal recessive severe congenital neutropenia due to CXCR2 Autosomal recessive severe congenital neutropenia due to G6PC3 Autosomal recessive severe congenital neutropenia due to JAGN1 Autosomal recessive spastic ataxia - optic atrophy - dysarthria Autosomal recessive spastic ataxia with leukoencephalopathy Autosomal recessive spastic paraplegia type 14 Autosomal recessive spastic paraplegia type 15 Autosomal recessive spastic paraplegia type 18 Autosomal recessive spastic paraplegia type 23 Autosomal recessive spastic paraplegia type 24 Autosomal recessive spastic paraplegia type 25 Autosomal recessive spastic paraplegia type 26 Autosomal recessive spastic paraplegia type 27 Autosomal recessive spastic paraplegia type 28 Autosomal recessive spastic paraplegia type 30 Autosomal recessive spastic paraplegia type P * of Families 10 Families 2 Families 3 Families Without specification, figures are worldwide. An asterisk * indicates European data. Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - March

12 Autosomal recessive spastic paraplegia type 35 Autosomal recessive spastic paraplegia type 39 Autosomal recessive spastic paraplegia type 48 Autosomal recessive spastic paraplegia type 57 Autosomal recessive spastic paraplegia type 58 Autosomal recessive spastic paraplegia type 59 Autosomal recessive spastic paraplegia type 60 Autosomal recessive spastic paraplegia type 61 Autosomal recessive spastic paraplegia type 62 Autosomal recessive spastic paraplegia type 63 Autosomal recessive spastic paraplegia type 64 Autosomal recessive spastic paraplegia type 66 Autosomal recessive spastic paraplegia type 67 Autosomal recessive spastic paraplegia type 68 Autosomal recessive spastic paraplegia type 69 Autosomal recessive spastic paraplegia type 70 Autosomal recessive spastic paraplegia type 71 Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type Autosomal recessive Stickler Autosomal recessive systemic lupus erythematosus Autosomal semi-dominant severe lipodystrophic laminopathy Autosomal spastic paraplegia type Axenfeld-Rieger 0.5 P * Axial spondylometaphyseal dysplasia AXIN2-related attenuated familial adenomatous polyposis of 2 Families 1 Case 1 Case 1 Case 7 Families 1 4 Families B4GALT1-CDG B-cell chronic lymphocytic leukemia 27.0 P * Bacterial toxic-shock 3.0 P Ballard Baller-Gerold 30 Cases of 1226 Bamforth-Lazarus 1227 Bangstad 1228 Banki 2995 Baraitser-Winter 30 Cases 1231 Barber-Say 11 Cases 110 Bardet-Biedl 0.7 P * 110 Bardet-Biedl 0.2 BP * 111 Barth 0.22 P * 1234 Bartsocas-Papas Bartter 0.1 I * Bathing suit ichthyosis Bazex Bazex-Dupré-Christol Becker muscular dystrophy 1.53 P Becker muscular dystrophy 2.2 BP * 116 Beckwith-Wiedemann 2.3 BP * 1237 Beemer-Ertbruggen 1241 Bencze 2 Families Benign concentric annular macular dystrophy Benign exophthalmos Benign familial neonatal 1949 epilepsy Benign familial neonatalinfantile seizures Benign familial nocturnal alternating hemiplegia of childhood Benign infantile focal epilepsy with midline spikes and wave during sleep Benign paroxysmal torticollis of infancy Benign Samaritan congenital myopathy Benign schwannoma 6.0 P * 528 Berardinelli-Seip congenital lipodystrophy 0.25 P * Families 10 Families 3 50 Cases 274 Bernard-Soulier 118 Beta-mannosidosis 0.14 BP * Beta-propeller proteinassociated neurodegeneration 848 Beta-thalassemia 1.0 I Beta-ureidopropionase Bilateral microtia - deafness cleft palate Without specification, figures are worldwide. An asterisk * indicates European data. Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - March

13 1980 Bilateral striopallidodentate calcinosis Biliary atresia 18.5 BP Biotinidase 1.6 P * Biotinidase 1.6 BP 122 Birt-Hogg-Dubé 0.5 P * of 200 Cases 123 Björnstad Blackfan-Diamond anemia 0.67 BP * Bladder exstrophy 3.05 BP Bleeding diathesis due to a collagen receptor defect Bleeding disorder due to CalDAG-GEFI 1997 Blepharo-cheilo-odontic 1252 Blepharonasofacial malformation Blepharophimosis - epicanthus 126 inversus - ptosis Blepharophimosis - ptosis esotropia - syndactyly - short stature Blepharophimosis-intellectual disability Blepharophimosis-intellectual disability due to UBE3B 2728 Blepharophimosis-intellectual disability, Ohdo type 3047 Blepharophimosis-intellectual disability, SBBYS type Blepharoptosis - myopia ectopia lentis Blindness-scoliosisarachnodactyly Blomstrand lethal chondrodysplasia 2.0 P 50 Cases 3 Families 5 30 Cases Bloom 400 Cases 16 Blue cone monochromatism 1.0 P 16 Blue cone monochromatism 1.0 BP 1059 Blue rubber bleb nevus 200 Cases BNAR 9 Families Body skin hyperlaxity due to vitamin K-dependent coagulation factor Bohring-Opitz 30 Cases 1842 Bone dysplasia, lethal Holmgren type Bone sarcoma 9.29 P * Bone sarcoma 0.8 I * 1261 Bonnemann-Meinecke-Reich of 1262 Böök Boomerang dysplasia 127 Borjeson-Forssman-Lehmann 50 Cases Bosley-Salih-Alorainy 1267 Botulism 0.05 I * 1270 Bowen-Conradi 60 Cases 1275 Brachydactyly - elbow wrist dysplasia 4 Families 2946 Brachydactyly - long thumb Brachydactyly - nystagmus cerebellar ataxia Brachydactyly - preaxial hallux 1278 varus Brachydactyly type A5 2 Families Brachydactyly type A Brachydactyly type A Brachydactyly-arterial hypertension Brachydactyly-syndactyly, Zhao type Brachymorphism onychodysplasia - dysphalangism 10 Families 2 Families 1293 Brachyolmia 1295 Brachytelephalangy - dysmorphism - Kallmann Braddock Bradyopsia Brain calcification, Rajab type Brain demyelination due to methionine adenosyltransferase Brain dopamine-serotonin vesicular transport disease Brain malformation - congenital heart disease - postaxial polydactyly Brain-lung-thyroid 1297 Branchio-oculo-facial 50 Cases 1299 Branchio-skeleto-genital Branchiogenic deafness BRESEK Brittle cornea Bronchopulmonary dysplasia 13.0 P * Brooke-Spiegler 2771 Bruck 40 Cases Without specification, figures are worldwide. An asterisk * indicates European data. Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - March

14 130 Brugada 20.0 P * 131 Budd-Chiari 1.5 P * Buerger disease 16.0 P Bullous diffuse cutaneous mastocytosis Bullous dystrophy, macular 1867 type Bullous systemic lupus erythematosus 543 Burkitt lymphoma 0.17 I * 1308 C 0.11 P * of 40 Cases 2 Families 70 Cases 135 CACH CADASIL 3.0 P * CADDS 1310 Caffey disease Calciphylaxis 5.0 P * Calvarial doughnut lesions - bone fragility CAMOS 1318 Campomelia, Cumming type 140 Campomelic dysplasia 0.33 BP * 1319 Camptobrachydactyly Camptodactyly - fibrous tissue 1321 hyperplasia - skeletal dysplasia Camptodactyly - tall stature scoliosis - hearing loss 30 Cases 1325 Camptodactyly - taurinuria 1 Camptodactyly, 1327 Guadalajara type 1 Camptodactyly, 1326 Guadalajara type Camptodactyly-arthropathycoxa-vara-pericarditis 30 Families 1328 Camurati-Engelmann disease 300 Cases 141 Canavan disease 1.0 BP CANDLE Cap myopathy Cap polyposis 6 Capillary malformation arteriovenous malformation Carbamoyl-phosphate 147 synthetase P Carcinoma of esophagus 9.8 P Carcinoma of esophagus 7.0 I Carcinoma of gallbladder and extrahepatic biliary tract 12.0 I 261 Cases Cardiac anomalies - heterotaxy Cardiac anomaliesdevelopmental delay-facial dysmorphism Cardiocranial, 2872 Pfeiffer type Cardiodysrhythmic potassiumsensitive periodic paralysis Cardiofaciocutaneous 0.1 I * Cardiogenic shock 40.0 P * Cardiomyopathy - cataract - hip 1345 spine disease Cardiomyopathy - hypotonia lactic acidosis Cardiomyopathy - renal anomalies 3238 Cardiospondylocarpofacial of 300 Cases 1358 Carey-Fineman-Ziter 1359 Carney complex 160 Cases Carney triad 150 Cases Carney-Stratakis 20 Families Carnitine palmitoyl transferase 156 1A Carnitine palmitoyl transferase II, myopathic form Carnitine palmitoyl transferase II, neonatal form Carnitine palmitoyl transferase II, severe infantile form Carnitine palmitoyltransferase 157 II Carnitine-acylcarnitine 159 translocase 1361 Carnosinemia 0.2 BP Caroli disease 0.1 I 50 Cases 300 Cases 1 30 Cases 300 Cases 60 Cases Carpenter 70 Cases Carpenter-Waziri 175 Cartilage-hair hypoplasia 4.34 BP * 195 Cat-eye 1.35 BP * Cat-scratch disease 6.6 P * 1368 Cataract - ataxia - deafness Cataract - deafness hypogonadism Cataract - intellectual disability hypogonadism Cataract - nephropathy encephalopathy 162 Cataract-glaucoma 3 Families Without specification, figures are worldwide. An asterisk * indicates European data. Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - March

15 Cataract-growth hormone -sensory neuropathysensorineural hearing loss skeletal dysplasia 1377 Cataract-microcornea Catecholaminergic polymorphic 3286 ventricular tachycardia 10.0 P * of 8 Families 1388 Catel-Manzke CEDNIK 1459 Celiac disease, epilepsy and cerebral calcification 170 Cases 3258 Cenani-Lenz 30 Cases 2431 Central bilateral macrogyria Central cloudy dystrophy of Francois Central diabetes insipidus 4.0 P * 3240 Central nervous system calcification - deafness - tubular acidosis - anemia Central neurocytoma 500 Cases Central retinal vein occlusion 28.0 P * Centripetalis recessive dystrophic epidermolysis bullosa Cerebellar ataxia - areflexia pes cavus - optic atrophy - sensorineural hearing loss Cerebellar-facial-dental Cerebral arteriovenous malformation 6.0 P * 3 Families 2081 Cerebral gigantism - jaw cysts Cerebral sinovenous thrombosis 1393 Cerebro-costo-mandibular Cerebro-facio-articular 1394 Cerebro-facio-thoracic dysplasia 0.35 I * Cerebro-oculo-nasal 3421 Cerebroretinal vasculopathy 3 Families Cernunnos-XLF Cervical hypertrichosis peripheral neuropathy Channelopathy-associated congenital insensitivity to pain Char 166 Charcot-Marie-Tooth disease 25.0 P * Charcot-Marie-Tooth disease type P Charcot-Marie-Tooth disease type 2B2 Charcot-Marie-Tooth disease type 2H Charcot-Marie-Tooth disease type 2P Charcot-Marie-Tooth disease type 2R Charcot-Marie-Tooth disease type 2T Charcot-Marie-Tooth disease type 4B1 Charcot-Marie-Tooth disease type 4B3 Charcot-Marie-Tooth disease type 4H Charcot-Marie-Tooth disease type 4J 138 CHARGE 6.5 BP of Case 11 Families 167 Chédiak-Higashi 500 Cases 1221 Cheilitis glandularis 184 Cherubism 300 Cases 139 CHILD 60 Cases Childhood apraxia of speech 2 Childhood disintegrative disorder Childhood encephalopathy due to thiamine pyrophosphokinase Childhood-onset autosomal recessive myopathy with external ophthalmoplegia 2.0 P * CHIME Choanal atresia 8.6 BP * 1200 Choanal atresia-hearing losscardiac defects-craniofacial dysmorphism Cholangiocarcinoma 2.1 P Cholangiocarcinoma 4.2 I 1414 Cholestasis-lymphedema Cholestasis-pigmentary 1415 retinopathy-cleft palate Chondrodysplasia - disorder of 1422 sex development Chondrodysplasia with joint dislocations, gpapp type 50 Cases Chondromyxoid fibroma 50 Cases Chondrosarcoma 0.24 I * Choroid plexus carcinoma 0.01 I * 1433 Choroidal atrophy - alopecia 180 Choroideremia 1.5 P * Without specification, figures are worldwide. An asterisk * indicates European data. Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - March

16 1435 Choroideremia - deafness - obesity of Christianson 30 Cases Chronic atrial and intestinal dysrhythmia 2137 Chronic autoimmune hepatitis 23.5 P 2137 Chronic autoimmune hepatitis 1.2 I Chronic diarrhea due to guanylate cyclase 2C overactivity 379 Chronic granulomatous disease 0.46 BP 396 Chronic hiccup 1.0 P * 2932 Chronic inflammatory demyelinating polyneuropathy 3.7 P * 521 Chronic myeloid leukemia 6.0 P * 521 Chronic myeloid leukemia 1.25 I * Chronic pain requiring intraspinal analgesia Chronic primary adrenal insufficiency Chronic primary adrenal insufficiency Chronic recurrent multifocal osteomyelitis Chronic recurrent multifocal osteomyelitis Chronic thromboembolic pulmonary hypertension CHST3-related skeletal dysplasia 12.0 P * 14.0 P * 0.4 I * 0.3 P 2.5 I 3.0 P * Chudley-Lowry-Hoar Chudley-McCullough 2 71 Chylomicron retention disease CIDEC-related familial partial lipodystrophy 1 Case 1451 CINCA 200 Cases Circumscribed palmoplantar hypokeratosis Cirrhosis-dystonia polycythemia- hypermanganesemia Citrullinemia type I 1.35 P * CK CLAPO Classic congenital adrenal hyperplasia due to 21- hydroxylase Classic congenital adrenal hyperplasia due to 21- hydroxylase 7.0 P * 7.0 BP Classic congenital adrenal hyperplasia due to hydroxylase, salt wasting form Classic congenital adrenal hyperplasia due to hydroxylase, salt wasting form Classic congenital adrenal hyperplasia due to hydroxylase, simple virilizing form Classic endocrine tumor of appendix 7.5 P * 7.5 BP * 2.5 P * 0.25 I Classic galactosemia 2.1 I * 391 Classic Hodgkin lymphoma 2.38 I * 394 Classic homocystinuria 1.65 P * 394 Classic homocystinuria 0.3 BP 2584 Classic mycosis fungoides 0.5 I * of 1995 Cleft lip - retinopathy 2001 Cleft lip/palate - intestinal malrotation - cardiopathy 2014 Cleft palate 53.6 BP * Cleft palate - short stature vertebral anomalies Cleft palate - stapes fixation oligodontia Cleft palate-lateral synechia Cleidocranial dysplasia 0.1 P 1452 Cleidocranial dysplasia 0.4 BP * 11 Cases 1453 Cleidorhizomelic CLIPPERS 50 Cases CLN11 disease CLN13 disease Cloacal exstrophy 0.54 BP CLOVE 1 Cloverleaf skull - multiple congenital anomalies COASY protein-associated neurodegeneration Cobb Cobblestone lissencephaly 1.0 BP * Cobblestone lissencephaly without muscular or ocular involvement 191 Cockayne 0.27 BP * 191 Cockayne 0.5 I * 1458 CODAS Coffin-Lowry 1.5 P Without specification, figures are worldwide. An asterisk * indicates European data. Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - March

17 of 1465 Coffin-Siris 190 Cases 1466 COFS COG1-CDG COG2-CDG 1 Case COG4-CDG COG5-CDG COG7-CDG COG8-CDG 1467 Cogan 300 Cases Cognitive impairment-coarse facies-heart defects-obesitypulmonary involvement-short stature-skeletal dysplasia 193 Cohen 200 Cases Colchicine poisoning 0.1 P * Cold-induced sweating 2050 Cole-Carpenter Collagenous colitis 3.35 I Coloboma of macula brachydactyly type B Colobomatous microphthalmiarhizomelic dysplasia Colobomatous optic discmacular atrophy chorioretinopathy Combined of factor V and factor VIII Combined hamartoma of the retina and retinal pigment epithelium Combined immuno due to CRAC channel dysfunction Combined immuno due to DOCK8 Combined immuno due to LRBA Combined immuno due to MALT1 Combined immuno due to ORAI1 Combined immuno due to OX40 Combined immuno due to STK4 Combined immuno T+ B+ due to partial RAG1 Combined oxidative phosphorylation defect type 11 Combined oxidative phosphorylation defect type P * 1 5 Families 1 11 Cases 2 1 Case Combined oxidative phosphorylation type 20 Combined oxidative phosphorylation type 21 Combined oxidative phosphorylation type 23 Combined oxidative phosphorylation type 24 Complement component Complete androgen insensitivity Complete androgen insensitivity 0.83 P 3.0 I * 1329 Complete atrioventricular canal 20.0 BP * of 11 Cases Complete cryptophthalmia Complication in hemodialysis 13.0 I * Cone dystrophy with supernormal rod response 1872 Cone rod dystrophy 2.5 P * 973 Congenital absence/hypoplasia of fingers excluding thumb, unilateral 418 Congenital adrenal hyperplasia 10.0 P * 418 Congenital adrenal hyperplasia 6.7 BP * 418 Congenital adrenal hyperplasia I * Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase Congenital adrenal hyperplasia due to 11-beta-hydroxylase Congenital adrenal hyperplasia due to 11-beta-hydroxylase Congenital adrenal hyperplasia due to 17-alpha-hydroxylase Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase Congenital alveolar capillary dysplasia Congenital amegakaryocytic 3319 thrombocytopenia 0.47 P * 0.75 BP * 0.1 P * 0.75 BP * 4 2 Families 6 40 Cases Congenital analbuminemia 50 Cases 1195 Congenital atransferrinemia 1 Congenital bilateral absence of 48 vas deferens Congenital bile acid synthesis defect type P * Without specification, figures are worldwide. An asterisk * indicates European data. Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - March

18 Congenital bile acid synthesis defect type 4 Congenital brain dysgenesis due to glutamine synthetase Congenital bronchobiliary 2040 fistula Congenital cataract hypertrophic cardiomyopathy - mitochondrial myopathy Congenital cataract - progressive muscular hypotonia hearing loss - developmental delay Congenital cataract-hearing loss-severe developmental delay Congenital cataracts - facial dysmorphism - neuropathy Congenital chronic diarrhea with protein-losing enteropathy Congenital diaphragmatic 2140 hernia Congenital disorder of 137 glycosylation Congenital dyserythropoietic 85 anemia Congenital dyserythropoietic anemia type III Congenital dyserythropoietic anemia type IV Congenital enterocyte heparan sulfate Congenital erosive and vesicular dermatosis Congenital erythropoietic porphyria 30.0 BP 1.5 BP * 0.16 BP * I * 325 Congenital factor II 0.05 P * 326 Congenital factor V 0.1 P * 327 Congenital factor VII 0.33 P * 329 Congenital factor XI 0.1 P * 331 Congenital factor XIII 0.05 P * 331 Congenital factor XIII 0.04 I * Congenital fibrinogen 335 Congenital generalized 1023 hypertrichosis, Ambras type 0.15 P * Congenital glaucoma 3.6 BP * Congenital heart block 4.54 BP Congenital heart malformation 7.8 BP * Congenital hereditary endothelial dystrophy type I Congenital hereditary facial paralysis with variable hearing loss of 3 40 Cases 160 Cases 3 Families 1 40 Cases Congenital hydrocephalus 46.5 BP * 442 Congenital hypothyroidism 38.0 BP * Congenital hypothyroidism due to developmental anomaly Congenital hypothyroidism due to transplacental passage of maternal TSH-binding inhibitory antibodies Congenital ichthyosis microcephalus - tetraplegia Congenital ichthyosisintellectual disability-spastic quadriplegia Congenital insensitivity to pain with hyperhidrosis Congenital intrauterine 1229 infection-like Congenital intrinsic factor 332 Congenital isolated 657 hyperinsulinism Congenital isolated thyroxinebinding globulin P * 1.0 P * 2.0 BP 46.0 P * of 30 Cases 1954 Congenital lethal erythroderma 1 Congenital lethal myopathy, Compton-North type 1928 Congenital lobar emphysema 4.0 BP Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells Congenital megacalycosis 2 Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization Congenital microcephalysevere encephalopathyprogressive cerebral atrophy Congenital muscular dystrophy due to LMNA mutation Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect Congenital muscular dystrophy 258 type 1A Congenital muscular dystrophy with integrin alpha-7 Congenital muscular dystrophy with intellectual disability and severe epilepsy Congenital myasthenic 590 Congenital myopathy with myasthenic-like onset Congenital myopathy, Paradas type 0.3 P * 0.03 P * 0.3 P * Without specification, figures are worldwide. An asterisk * indicates European data. Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - March

19 Congenital nephrotic -interstitial lung disease-epidermolysis bullosa Congenital neuronal ceroid lipofuscinosis Congenital neutropeniamyelofibrosis-nephromegaly Congenital non-bullous ichthyosiform erythroderma Congenital osteogenesis 2772 imperfecta - microcephaly - cataracts 0.3 P * of Congenital pancreatic cyst Congenital panfollicular nevus Congenital pseudoarthrosis of clavicle Congenital pulmonary airway 2444 malformation Congenital pulmonary 2414 lymphangiectasia Congenital pulmonary valve 3189 stenosis Congenital reticular ichthyosiform erythroderma 8.2 BP * 39.3 BP * 290 Congenital rubella 0.35 BP * 290 Congenital rubella 0.03 I * Congenital short bowel 2301 Congenital sideroblastic anemia-b-cell immuno-periodic fever-developmental delay 200 Cases 40 Cases 41 Cases Congenital sodium diarrhea 1 Congenital stromal corneal dystrophy Congenital sucrase-isomaltase Congenital total pulmonary venous return anomaly 20.0 P * 9.0 BP 858 Congenital toxoplasmosis 33.0 BP * Congenitally corrected transposition of the great arteries Congenitally short 2391 costocoracoid ligament Congenitally uncorrected 860 transposition of the great arteries 3.0 BP BP * 5 Families Cono-spondylar dysplasia Contractures - ectodermal 1484 dysplasia - cleft lip/palate Contractures-developmental delay-pierre Robin Contractures-webbed neckmicrognathia-hypoplastic nipples of 1487 Cooks 11 Cases 1488 Cooper-Jabs Corneal dystrophy - perceptive 1490 deafness Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis 3177 Corneal-cerebellar 199 Cornelia de Lange 1.9 P * 199 Cornelia de Lange 1.0 BP * Cortical blindness - intellectual 1389 disability - polydactyly Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation Corticosteroid-sensitive aseptic abscess Costello 300 Cases 201 Cowden 0.5 P * 1508 Coxoauricular 1509 Coxopodopatellar Cranio-osteoarthropathy 30 Cases 1513 Craniodiaphyseal dysplasia 1514 Craniodigital - intellectual disability 1515 Cranioectodermal dysplasia Craniofacial conodysplasia Craniofacial dysplasiaosteopenia Craniofacial dyssynostosis Craniofacial-deafness-hand Craniofrontonasal dysplasia Poland anomaly Craniolenticulosutural dysplasia Craniometaphyseal dysplasia 160 Cases Craniopharyngioma 2.0 P * Craniopharyngioma 1.0 I Craniorhiny 3 Families 1531 Craniosynostosis 24.3 BP * Craniosynostosis - anal anomalies - porokeratosis Craniosynostosis - Dandy Walker malformation - hydrocephalus Without specification, figures are worldwide. An asterisk * indicates European data. Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - March