Prevalence of rare diseases: Bibliographic data

Transcription

1 Prevalence distribution of rare diseases diseases May November (/100000) Prevalence of rare diseases: Bibliographic data Listed in alphabetical order of disease or group of diseases

2 Methodology A systematic survey of the literature is being performed in order to provide an estimate of the of rare diseases in Europe. An updated report will be 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 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, and/or confusion between incidence at birth and life-long incidence. The validity of the studies is taken for granted and not assessed. It is likely that there is an overestimation for most diseases as the few surveys are usually done in regions of higher and are usually based on hospital data. Therefore, these estimates are an indication of the assumed but may not be accurate. Collected data Prevalence values provided are the mean of the highest and lowest values collected. When is not documented we calculate it using incidence: - For congenital diseases with birth-onset, = incidence at birth x (patient life expectancy/ general population life expectancy) ; - For the other rare diseases, = incidence x rare disease mean duration ; When no or incidence data are available, the number of or reported in the literature is provided. The * sign indicates a life time. The ** sign indicates a birth. It was used when the birth was the only data available and a 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: contact.orphanet@inserm.fr Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - May

3 Prevalence or reported number of listed in alphabetical order of disease or group of diseases or q14 microdeletion q13.3 microdeletion q24 microdeletion p36 deletion 15** q22.13q22.2 microdeletion q11.2 deletion 5.6** methylbutyryl-CoA dehydrogenase < p21 microdeletion q24 microdeletion q32q33 microdeletion < q37 microdeletion C hydroxy-3-methylglutaryl-CoA synthase M methylglutaconic aciduria ,XX disorder of sex development - skeletal anomalies ,XX ovotesticular disorder of sex development ,XY disorder of sex development - adrenal insufficiency due to CYP11A ,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase ,XY gonadal dysgenesis - motor and sensory neuropathy ,XXYY 1.9** 2 > hydroxybutyric aciduria oxoprolinase q terminal deletion q16 deletion q22.1 microdeletion Aarskog-Scott 0.4** 916 Aase-Smith < Ablepharon macrostomia Abruzzo-Erickson Absence of fingerprints - congenital milia Absent thumb - short stature - immuno Acanthamoeba keratitis Acanthosis nigricans - Insulin resistance - muscle cramps - acral enlargement Acatalasemia Aceruloplasminemia 0.1 or 929 Achalasia - microcephaly Acheiropodia < Achondrogenesis 2.8** 15 Achondroplasia 2.6** Achromatopsia Ackerman Acquired generalized lipodystrophy > Acquired hemophilia Acquired hypertrichosis lanuginosa Acquired Von Willebrand Acrocallosal Acro-cardio-facial Acrocraniofacial dysostosis 2 37 Acrodermatitis enteropathica Acrofacial dysostosis, Catania Acrofacial dysostosis, Kennedy-Teebi Acrofacial dysostosis, Palagonia Acrofacial dysostosis, Rodríguez < Acro-fronto-facio-nasal dysostosis Acromegaloid facial appearance < Acromegaly Acromegaly - cutis verticis gyrata - corneal leukoma Acromelanosis < Acromesomelic dysplasia, Brahimi-Bacha Acromesomelic dysplasia, Hunter-Thomson Acromesomelic dysplasia, Maroteaux Acromicric dysplasia < Acroosteolysis dominant Acro-pectoral Acro-pectoro-renal dysplasia Acropectorovertebral dysplasia < Acrorenal Acro-renal-mandibular Acro-renal-ocular < 20 * Lifetime ** Prevalence at birth Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - May

4 or Action myoclonus - renal failure Acute bilateral depigmentation of the iris Acute inflammatory demyelinating polyradiculoneuropathy Acute intermittent porphyria Acute interstitial pneumonia Acute liver failure Acute motor axonal neuropathy Acute motor-sensory axonal neuropathy Acute myeloid leukemia 11* Adamantinoma 0.11* 2952 Adducted thumbs - arthrogryposis, Christian 45 Adenosine monophosphate deaminase 3 > Adenylosuccinate lyase Adrenocortical carcinoma Adult familial nephronophthisis - spastic quadriparesia Adult intestinal botulism Adult Still's disease ADULT Adult-onset proximal spinal muscular atrophy, autosomal dominant Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis Agenesis of the corpus callosum - intellectual disability - coloboma - micrognathia Aggressive systemic mastocytosis Agnathia - holoprosencephaly - situs inversus Aicardi 1** 51 Aicardi-Goutières Alagille 0.4** Åland Islands eye disease > Alar cartilages hypoplasia - coloboma - telecanthus 53 Albers-Schönberg osteopetrosis Albinism-deafness ALDH18A1-related De Barsy Alexander disease ALG12-CDG ALG1-CDG ALG2-CDG 1 case ALG3-CDG ALG6-CDG ALG8-CDG ALG9-CDG Al-Gazali-Dattani 3 56 Alkaptonuria 0.5 or 59 Allan-Herndon-Dudley Alopecia - contractures - dwarfism - intellectual disability 1008 Alopecia - epilepsy - pyorrhea - intellectual disability 700 Alopecia totalis Alopecia universalis Alpers 0.7** 60 Alpha-1-antitrypsin Alpha-mannosidosis 0.2** Alpha-N-acetylgalactosaminidase < Alpha-thalassemia - X-linked intellectual disability 63 Alport Alternating hemiplegia of childhood 0.9** > Alveolar echinococcosis < Amaurosis - hypertrichosis Amelo-cerebro-hypohidrotic Amelogenesis imperfecta and gingival hyperplasia Aminopterin/methotrexate embryofetopathy Amniotic bands 4** 69 Amyloidosis Amyotrophic lateral sclerosis Anal fistula Anaplastic large cell lymphoma Anaplastic thyroid carcinoma ANE 5 72 Angelman Angel-shaped phalango-epiphyseal dysplasia Angio-osteohypertrophic 0.8** Anhidrotic ectodermal dysplasia - immuno - osteopetrosis - lymphedema Aniridia - absent patella Aniridia - cerebellar ataxia - intellectual disability 1067 Aniridia - ptosis - intellectual disability - familial obesity 1064 Aniridia - renal agenesis - psychomotor retardation > Aniridia-intellectual disability Anisakiasis Ankyloblepharon filiforme - imperforate anus Ankylosing vertebral hyperostosis with tylosis Annular pancreas 1.8** 1094 Anonychia - microcephaly 5 * Lifetime ** Prevalence at birth Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - May

5 or Anonychia with flexural pigmentation Anophthalmia - heart and pulmonary anomalies - intellectual disability 1102 Anophthalmia - hypothalamo-pituitary insufficiency 1101 Anophthalmia - megalocornea - cardiopathy - skeletal anomalies Anophthalmia plus Anophthalmia/microphthalmia - esophageal atresia Antecubital pterygium Antley-Bixler Antley-Bixler with genital anomaly and disorder of steroidogenesis 1110 Aortic arch anomaly - peculiar facies - intellectual disability 2299 Aortic arch interruption 0.3** Aortic dilatation - joint hypermobility - arterial tortuosity < Aorto-ventricular tunnel Apert Aphalangy - hemivertebrae - urogenitalintestinal dysgenesis Aphalangy - syndactyly - microcephaly 1117 Aplasia cutis - myopia Aplasia cutis congenita - intestinal lymphangiectasia Apnea of prematurity Arachnodactyly - abnormal ossification - intellectual disability 1130 Arachnodactyly - intellectual disability - dysmorphism AREDYLD Arginine:glycine amidinotransferase 9 23 Argininosuccinic aciduria Aromatase Arrhinia Arrhinia - choanal atresia - microphthalmia Arrhythmogenic right ventricular dysplasia Arterial dissection - lentiginosis Arterial tortuosity < Arthrogryposis - hyperkeratosis, lethal form Arthrogryposis - renal dysfunction - cholestasis 1037 Arthrogryposis multiplex congenita 5.7** 1150 Arthrogryposis multiplex congenita - whistling face 1144 Arthrogryposis-like hand anomaly - sensorineural deafness < Ascher 50 or Astley-Kendall dysplasia 5 94 Astrocytoma Ataxia-deafness-retardation Ataxia-telangiectasia Atelosteogenesis I Atelosteogenesis II Atelosteogenesis III < Athabaskan brainstem dysgenesis Atherosclerosis - deafness - diabetes - epilepsy - nephropathy Athyreosis Atkin-Flaitz Atopic keratoconjunctivitis Atresia of small intestine Atrial septal defect - atrioventricular conduction defects Atrial tachyarrhythmia with short PR interval Atypical coarctation of aorta 0.17** 2134 Atypical hemolytic uremic Atypical Rett Auricular abnormalities - cleft lip with or without cleft palate - ocular abnormalities Auriculoocular anomalies - cleft lip Auriculoosteodysplasia Autism - facial port-wine stain Autoimmune lymphoproliferative > Autosomal dominant cerebellar ataxia Autosomal dominant Charcot-Marie-Tooth disease 2F Autosomal dominant Charcot-Marie-Tooth disease 2G Autosomal dominant Charcot-Marie-Tooth disease 2K Autosomal dominant Charcot-Marie-Tooth disease 2L Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures 1810 Autosomal dominant hypohidrotic ectodermal dysplasia Autosomal dominant hypophosphatemic rickets Autosomal dominant intermediate Charcot- Marie-Tooth disease E 503 Autosomal dominant Larsen 0.4** 266 Autosomal dominant limb-girdle muscular dystrophy 1A 264 Autosomal dominant limb-girdle muscular dystrophy 1B < * Lifetime ** Prevalence at birth Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - May

6 34516 Autosomal dominant limb-girdle muscular dystrophy 1D Autosomal dominant limb-girdle muscular dystrophy 1E Autosomal dominant limb-girdle muscular dystrophy 1F Autosomal dominant limb-girdle muscular dystrophy 1G Autosomal dominant multiple pterygium Autosomal dominant optic atrophy and cataract or Autosomal dominant osteopetrosis Autosomal dominant palmoplantar keratoderma and congenital alopecia Autosomal dominant polycystic kidney disease 1 with tuberous sclerosis Autosomal dominant primary hypomagnesemia with hypocalciuria Autosomal dominant rhegmatogenous retinal detachment Autosomal dominant Robinow Autosomal dominant spastic paraplegia Autosomal dominant spastic paraplegia Autosomal dominant spastic paraplegia Autosomal dominant spastic paraplegia Autosomal dominant spastic paraplegia Autosomal dominant spastic paraplegia Autosomal dominant spastic paraplegia 38 < 10 < 10 < 10 < Autosomal dominant spastic paraplegia Autosomal dominant spastic paraplegia 8 < Autosomal dominant spastic paraplegia Autosomal recessive amelia Autosomal recessive ataxia, Beauce Autosomal recessive cerebellar ataxia Autosomal recessive cerebellar ataxia - blindness - deafness Autosomal recessive cerebellar ataxia - saccadic intrusion 267 Autosomal recessive limb girdle muscular dystrophy 2A 268 Autosomal recessive limb-girdle muscular dystrophy 2B 353 Autosomal recessive limb-girdle muscular dystrophy 2C , Autosomal recessive limb-girdle muscular dystrophy 2E 219 Autosomal recessive limb-girdle muscular dystrophy 2F Autosomal recessive limb-girdle muscular dystrophy 2G Autosomal recessive limb-girdle muscular dystrophy 2I Autosomal recessive limb-girdle muscular dystrophy 2L Autosomal recessive limb-girdle muscular dystrophy 2M Autosomal recessive lower motor neuron disease with childhood onset 667 Autosomal recessive malignant osteopetrosis 0.75** 0, or Autosomal recessive omodysplasia Autosomal recessive polycystic kidney disease Autosomal recessive Robinow < Autosomal recessive spastic paraplegia Autosomal recessive spastic paraplegia 15 < Autosomal recessive spastic paraplegia Autosomal recessive spastic paraplegia Autosomal recessive spastic paraplegia Autosomal recessive spastic paraplegia Autosomal recessive spastic paraplegia Autosomal recessive spastic paraplegia Autosomal recessive spastic paraplegia Autosomal recessive spastic paraplegia Autosomal recessive spastic paraplegia Autosomal recessive spastic paraplegia Autosomal recessive spastic paraplegia Axenfeld-Rieger Axial spondylometaphyseal dysplasia B4GALT1-CDG 1 case Bacterial toxic-shock Ballard Bamforth Bangstad Banki 2995 Baraitser-Winter Barber-Say Bardet-Biedl Barth Bartsocas-Papas Bazex Bazex-Dupré-Christol B-cell chronic lymphocytic leukemia 27 * Lifetime ** Prevalence at birth Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - May

7 116 Beckwith-Wiedemann 2.3** or 1237 Beemer-Ertbruggen Behçet disease Bencze Benign exophthalmos Benign familial neonatal-infantile seizures Benign familial nocturnal alternating hemiplegia of childhood < Benign paroxysmal torticollis of infancy Berardinelli-Seip congenital lipodystrophy Bernard-Soulier Beta-mannosidosis 0.14** 848 Beta-thalassemia Beta-ureidopropionase Bethlem myopathy Bilateral microtia - deafness - cleft palate Bilateral renal agenesis 2** 1980 Bilateral striopallidodentate calcinosis < Biliary atresia 2.9** 122 Birt-Hogg-Dubé Björnstad Blackfan-Diamond anemia 0.67** Bladder exstrophy Bleeding diathesis due to a collagen receptor defect < Blepharo-cheilo-odontic > Blepharofacioskeletal Blepharonasofacial malformation Blepharophimosis - ptosis - esotropia - syndactyly - short stature 3047 Blepharophimosis-intellectual disability, SBBYS 6 < Blepharoptosis - myopia - ectopia lentis Blindness - scoliosis - arachnodactyly Bloom Blue cone monochromatism Blue rubber bleb nevus > Body skin hyperlaxity due to vitamin K-dependent coagulation factor Bohring-Opitz < Bone dysplasia, lethal Holmgren Bonnemann-Meinecke-Reich Böök Boomerang dysplasia Bosley-Salih-Alorainy Botulism Boutonneuse fever 17 or 1276 Brachydactyly - arterial hypertension > Brachydactyly - long thumb Brachydactyly - nystagmus - cerebellar ataxia 1278 Brachydactyly - preaxial hallux varus Brachydactyly A Brachydactyly A Brachymorphism - onychodysplasia - dysphalangism 1295 Brachytelephalangy - dysmorphism - Kallmann Braddock Bradyopsia Brain calcification, Rajab Brain demyelination due to methionine adenosyltransferase Brain malformation - congenital heart disease - postaxial polydactyly Brain stem tumor Brain-lung-thyroid < Branchiogenic deafness Branchio-oculo-facial < Branchio-skeleto-genital BRESEK Bronchopulmonary dysplasia Bruck < Brugada Budd-Chiari Buerger disease Bullous dystrophy, macular Bullous pemphigoid Bullous systemic lupus erythematosus Buschke-Ollendorff Cabezas 135 CACH CADASIL Calciphylaxis Calvarial doughnut lesions - bone fragility CAMOS Campomelia, Cumming Campomelic dysplasia 0.33** 1319 Camptobrachydactyly 1321 Camptodactyly - fibrous tissue hyperplasia - skeletal dysplasia 3 * Lifetime ** Prevalence at birth Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - May

8 85164 Camptodactyly - tall stature - scoliosis - hearing loss or Camptodactyly - taurinuria Camptodactyly, Guadalajara Camptodactyly, Guadalajara Camptodactyly-arthropathy-coxa-varapericarditis < Camurati-Engelmann disease > Cantrell pentalogy 0.55** Cap myopathy < Cap polyposis Carbamoylphosphate synthetase Cardiac anomalies - heterotaxy Cardiocranial, Pfeiffer < Cardiofaciocutaneous Cardiomyopathy - cataract - hip spine disease Cardiomyopathy - hypotonia - lactic acidosis Cardiomyopathy - renal anomalies Cardiospondylocarpofacial Carey-Fineman-Ziter < Carnevale Carney complex Carney triad Carnitine palmitoyl transferase II > Carnitine-acylcarnitine translocase Carnosinemia Caroli disease < Carpenter > Carpenter-Waziri Carpotarsal osteochondromatosis < Cataract - ataxia - deafness Cataract - deafness - hypogonadism Cataract - intellectual disability - hypogonadism < Cataract - nephropathy - encephalopathy Cataract-glaucoma Cataract-microcornea Catecholamine-producing tumor Catecholaminergic polymorphic ventricular tachycardia 1388 Catel-Manzke > Cat-eye Cat-scratch disease CEDNIK Celiac disease, epilepsy and cerebral calcification or Cenani-Lenz < Central areolar choroidal dystrophy Central bilateral macrogyria Central core disease Central nervous system calcification - deafness - tubular acidosis - anemia Central neurocytoma > Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss Cerebral arteriovenous malformation Cerebral gigantism - jaw cysts < Cerebro-costo-mandibular Cerebro-oculo-nasal Cerebroretinal vasculopathy Cerebrotendinous xanthomatosis Cervical hypertrichosis - peripheral neuropathy CHAND > Channelopathy-associated congenital insensitivity to pain Char Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease 2B Charcot-Marie-Tooth disease 2H Charcot-Marie-Tooth disease 4B Charcot-Marie-Tooth disease 4H Charcot-Marie-Tooth disease 4J Chédiak-Higashi CHILD Childhood apraxia of speech Childhood disintegrative disorder CHIME Choanal atresia 8.6** 1200 Choanal atresia - deafness - cardiac defects - dysmorphism Cholangiocarcinoma Cholestasis - lymphedema Cholestasis - pigmentary retinopathy - cleft palate 1422 Chondrodysplasia - disorder of sex development Chondrodysplasia, Blomstrand Chondrosarcoma Chordoma Choroidal atrophy - alopecia 2 * Lifetime ** Prevalence at birth Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - May

9 180 Choroideremia 1.5 or 1435 Choroideremia - deafness - obesity Christianson < Chronic autoimmune hepatitis Chronic granulomatous disease 0.4** 396 Chronic hiccup Chronic inflammatory demyelinating polyneuropathy 521 Chronic myeloid leukemia Chronic thromboembolic pulmonary hypertension Chudley-Lowry-Hoar CINCA Circumscribed palmoplantar hypokeratosis Citrullinemia CLAPO Classical homocystinuria Cleft lip - retinopathy Cleft lip/palate - intestinal malrotation - cardiopathy 2015 Cleft palate - short stature - vertebral anomalies Cleft palate - stapes fixation - oligodontia Cleft palate-lateral synechia Cleidorhizomelic Cloacal exstrophy Cobb Cobblestone lissencephaly 1** 191 Cockayne CODAS Coffin-Lowry Coffin-Siris < COFS < COG7-CDG COG8-CDG Cogan Cohen Colchicine poisoning Cold-induced sweating Cole-Carpenter Collagenous colitis Coloboma of macula - brachydactyly B Colobomatous - microphthalmia - heart disease - hearing loss Combined of factor V and factor VIII Common variable immuno Complete atrioventricular canal 20** or Cone dystrophy with supernormal rod response Cone rod dystrophy Congenital absence/hypoplasia of fingers excluding thumb, unilateral 418 Congenital adrenal hyperplasia 10 < Congenital alveolar capillary dysplasia < Congenital analbuminemia < Congenital atransferrinemia Congenital bilateral absence of vas deferens Congenital bile acid synthesis defect Congenital bile acid synthesis defect Congenital brain dysgenesis due to glutamine synthetase Congenital bronchobiliary fistula Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy Congenital cataracts - facial dysmorphism - neuropathy 2140 Congenital diaphragmatic hernia 21.2** 137 Congenital disorder of glycosylation 1.5** 85 Congenital dyserythropoietic anemia Congenital enterocyte heparan sulfate Congenital erythropoietic porphyria > Congenital factor II Congenital factor V Congenital factor VII Congenital factor X Congenital factor XI Congenital factor XIII Congenital fibrinogen Congenital generalized hypertrichosis, Ambras Congenital hypogonadotropic hypogonadism Congenital hypothyroidism Congenital hypothyroidism due to developmental anomaly Congenital hypothyroidism due to transplacental passage of maternal TSHbinding inhibitory antibodies 2271 Congenital ichthyosis - microcephalus - tetraplegia 1229 Congenital intrauterine infection-like Congenital isolated hyperinsulinism > 30 * Lifetime ** Prevalence at birth Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - May

10 Congenital isolated thyroxine-binding globulin or 1954 Congenital lethal erythroderma Congenital lethal myopathy, Compton-North Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells Congenital megacalycosis > Congenital muscular dystrophy Congenital muscular dystrophy due to LMNA mutation 258 Congenital muscular dystrophy 1A Congenital muscular dystrophy with integrin alpha Congenital muscular dystrophy, Ullrich Congenital myasthenic s Congenital myopathy Congenital osteogenesis imperfecta - microcephaly - cataracts Congenital pseudoarthrosis of clavicle > Congenital pulmonary lymphangiectasia > Congenital pulmonary valve stenosis 28.4** 290 Congenital rubella 0.29** Congenital sucrase-isomaltase Congenital toxoplasmosis 33** Congenitally corrected transposition of the great arteries 0.3** 2391 Congenitally short costocoracoid ligament 1484 Contractures - ectodermal dysplasia - cleft lip/ palate Cooks Cooper-Jabs Corneal anesthesia - deafness - intellectual disability Corneal dystrophy - perceptive deafness < Corneal-cerebellar Cornelia de Lange 1** Coronary artery disease - hyperlipidemia - hypertension - diabetes - osteoporosis 1389 Cortical blindness - intellectual disability - polydactyly 278 Corticobasal degeneration Corticosteroid-sensitive aseptic abscesses Costello Cowden Coxoauricular 4 or 1509 Coxo-podo-patellar Craniodiaphyseal dysplasia < Craniodigital - intellectual disability Cranioectodermal dysplasia Craniofacial conodysplasia 1529 Craniofacial-deafness-hand Craniofrontonasal dysplasia - Poland anomaly Craniolenticulosutural dysplasia Craniometaphyseal dysplasia Cranio-osteoarthropathy Craniopharyngioma Craniorachischisis Craniorhiny Craniosynostosis - Dandy-Walker malformation - hydrocephalus 1535 Craniosynostosis - dysmorphism - brachydactyly Craniosynostosis - fibular aplasia Craniosynostosis - hydrocephalus - Chiari I malformation - radioulnar synostosis Craniosynostosis - intracranial calcifications Craniosynostosis, Boston Craniosynostosis, Philadelphia 1534 Craniosynostosis-radial aplasia, Imaizumi CREST Creutzfeldt-Jakob disease Crigler-Najjar 0.1** 1545 Crisponi < Criss-cross heart 0.8** 2930 Cronkhite-Canada Crouzon disease Cryptomicrotia - brachydactyly - excess fingertip arch 1549 Cryptosporidiosis Currarino triad Curry-Jones Cushing disease Cushing Cutaneous lupus erythematosus Cutaneous mastocytosis Cutaneous neuroendocrine carcinoma Cutaneous photosensitivity - lethal colitis Cutis gyrata - acanthosis nigricans - craniosynostosis 209 Cutis laxa 0.1** Cutis marmorata telangiectatica congenita Cutis verticis gyrata - intellectual disability 1.02 * Lifetime ** Prevalence at birth Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - May

11 2686 Cyclic neutropenia 0.1 or 2674 Cyprus facial-neuromusculoskeletal 212 Cystathioninuria Cystic fibrosis Cystic hamartoma of lung and kidney < Cystic leukoencephalopathy without megalencephaly 213 Cystinosis 0.5** 214 Cystinuria 14 < Cystoid macular dystrophy Cytophagic histiocytic panniculitis < Czech dysplasia, metatarsal < Dacryocystitis - osteopoikilosis Dahlberg-Borer-Newcomer Dandy-Walker malformation - postaxial polydactyly 218 Darier disease De Hauwere Deaf blind hypopigmentation, Yemenite Deafness - enamel hypoplasia - nail defects Deafness - genital anomalies - metacarpal and metatarsal synostosis Deafness - intellectual disability, Martin-Probst Deafness - lymphedema - leukemia < Deafness - onychodystrophy < Deafness - vitiligo - achalasia Deafness with labyrinthine aplasia, microtia, and microdontia Deafness-infertility Dehydratase DEND Dent disease Dentatorubral pallidoluysian atrophy Dentinogenesis imperfecta - short stature - hearing loss - intellectual disability Denys-Drash Dermatitis herpetiformis Dermato-cardio-skeletal, Borrone Dermatofibrosarcoma protuberans Dermatoleukodystrophy Dermatomyositis Dermatoosteolysis, Kirghizian Dermo-odonto dysplasia 14 or 1425 Desbuquois > Desmosterolosis Developmental delay - deafness, Hildebrand Developmental malformations - deafness - dystonia Diaphanospondylodysostosis < Diaphragmatic defect - limb - skull defect 628 Diastrophic dwarfism Diffuse cutaneous systemic sclerosis Diffuse large B-cell lymphoma Diffuse neonatal hemangiomatosis < Diffuse palmoplantar keratodermaacrocyanosis Digitorenocerebral < Digitotalar dysmorphism Dihydropteridine reductase > Dihydropyrimidinuria Dincsoy-Salih-Patel Dirofilariasis Disorder of bile acid synthesis Disorder of sex development - intellectual disability 1307 Distal limb deficiencies - micrognathia Distal monosomy 10q Distal monosomy 5q Distal monosomy 6p > Distal myopathy with early respiratory muscle involvement Distal myopathy with posterior leg and anterior hand involvement Distal myopathy with vocal cord weakness Distal symphalangism < Distal trisomy 10q Distal trisomy 6p DK1-CDG Donnai-Barrow Dopamine beta-hydroxylase Dopa-responsive dystonia Dopa-responsive dystonia due to sepiapterin reductase Double outlet left ventricle Double uterus - hemivagina - renal agenesis < DPAGT1-CDG 3 * Lifetime ** Prevalence at birth Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - May

12 or DPM1-CDG Duane anomaly - myopathy - scoliosis Duane retraction Dubowitz 0.2** Duchenne muscular dystrophy Duodenal atresia Dursun Dyggve-Melchior-Clausen disease Dyschondrosteosis - nephritis 1775 Dyskeratosis congenita Dysmorphism - short stature - deafness - disorder of sex development Dystonia Early infantile epileptic encephalopathy Early myoclonic encephalopathy Early-onset cerebellar ataxia with retained tendon reflexes 256 Early-onset generalized limb-onset dystonia Ear-patella-short stature Ebstein malformation 3.5** 1235 Ectodermal dysplasia - absent dermatoglyphs < Ectodermal dysplasia - blindness Ectodermal dysplasia, Berlin Ectopia lentis - chorioretinal dystrophy - myopia 1888 Ectrodactyly - ectodermal dysplasia without clefting EEM Ehlers-Danlos 0.5** Ehlers-Danlos Ehlers-Danlos, classic Ehlers-Danlos, dermatosparaxis Ehlers-Danlos, fibronectinemic 285 Ehlers-Danlos, hypermobility Ehlers-Danlos, kyphoscoliotic 1** 2953 Ehlers-Danlos, musculocontractural Ehlers-Danlos, spondylocheirodysplastic 286 Ehlers-Danlos, vascular Ehrlichiosis < Eiken Ellis Van Creveld 0.3** 261 Emery-Dreifuss muscular dystrophy Encephalocraniocutaneous lipomatosis Encephalopathy due to GLUT Encephalopathy due to hydroxykynureninuria < 30 or Encephalopathy due to prosaposin < Encephalopathy due to sulfite oxidase 296 Enchondromatosis 1 > Endosteal sclerosis - cerebellar hypoplasia Eng-Strom Enthesitis-related arthritis Eosinophilic esophagitis Eosinophilic fasciitis Eosinophilic gastroenteritis Eosinophilic granulomatosis with polyangiitis Ependymal tumor Epidermal nevus > Epidermolysis bullosa simplex Epidermolysis bullosa simplex with muscular dystrophy > Epilepsy - microcephaly - skeletal dysplasia Epilepsy telangiectasia Episodic ataxia Episodic ataxia Episodic ataxia Episodic ataxia Episodic ataxia Epithelio-exfoliative colitis - deafness Erdheim-Chester disease > Ermine pheno Erythrokeratodermia - ataxia Erythrokeratodermia variabilis > Erythropoietic protoporphyria Esophageal atresia Esophageal carcinoma 12.2* 3318 Essential thrombocythemia Esthesioneuroblastoma Ethylmalonic encephalopathy < Evans Ewing sarcoma Extraskeletal myxoid chondrosarcoma Eyebrow duplication - syndactyly Fabry disease 0.22** 1970 Facial dysmorphism - macrocephaly - myopia - Dandy-Walker malformation Facial onset sensory and motor neuronopathy Facioscapulohumeral dystrophy 4 * Lifetime ** Prevalence at birth Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - May

13 or Familial acute necrotizing encephalopathy Familial adenomatous polyposis Familial caudal dysgenesis Familial cold urticaria Familial developmental dysphasia Familial dysautonomia Familial encephalopathy with neuroserpin inclusion bodies > Familial glucocorticoid Familial isolated dilated cardiomyopathy Familial isolated hypoparathyroidism < Familial isolated hypoparathyroidism due to agenesis of parathyroid gland Familial isolated restrictive cardiomyopathy Familial long QT 40** Familial multiple fibrofolliculoma Familial or sporadic hemiplegic migraine Familial partial lipodystrophy associated with PPARG mutations Familial partial lipodystrophy due to AKT2 mutations Familial partial lipodystrophy, Dunnigan Familial partial lipodystrophy, Köbberling < Familial platelet with predisposition to acute myelogenous leukemia Familial primary hypomagnesemia with normocalcuria and normocalcemia Familial scaphocephaly, McGillivray < Familial sick sinus Familial thyroid dyshormonogenesis 4 84 Fanconi anemia FASTKD2-related infantile mitochondrial encephalomyopathy Fatal familial insomnia Fatal mitochondrial disease due to combined oxidative phosphorylation Feingold < Femur-fibula-ulna complex Fetal akinesia deformation sequence 0.6** 1915 Fetal alcohol 1.6** 294 Fetal cytomegalovirus Fetal Gaucher disease Fetal methylmercury Fetal varicella > Fibrochondrogenesis Fibrodysplasia ossificans progressiva 0.05 or 1118 Fibular aplasia - ectrodactyly < Fibular dimelia - diplopodia Fibular hemimelia Filippi < Fine-Lubinsky Fingerprint body myopathy < Floating-Harbor Flynn-Aird Focal dermal hypoplasia Focal facial dermal dysplasia I Focal myositis Focal, segmental or multifocal dystonia Follicular lymphoma Fountain Foveal hypoplasia - presenile cataract Fragile X Frank-Ter Haar Fraser 0.2** 347 Frasier > Freeman-Sheldon Fried 95 Friedreich ataxia Frontometaphyseal dysplasia < Frontotemporal dementia Fructose-1,6-bisphosphatase 5** 2059 Fryns 7** 349 Fucosidosis Fuhrmann Fumaric aciduria < Furlong Galactosemia 2** 2065 Galloway-Mowat Gamma-aminobutyric acid transaminase Gamma-glutamyl transpeptidase Gamma-glutamylcysteine synthetase GAPO Gastric cancer Gastrointestinal stromal tumor Gastroschisis 23.7** 355 Gaucher disease Gaucher disease - ophthalmoplegia - cardiovascular calcification Gaucher disease 1 1 < 10 * Lifetime ** Prevalence at birth Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - May

14 77260 Gaucher disease Gaucher disease or GCS1-CDG Geleophysic dysplasia Genitopatellar German Giant axonal neuropathy Gingival fibromatosis - progressive deafness Gitelman Glaucoma - ectopia - microspherophakia - stiff joints - short stature Glaucoma - sleep apnea Glial tumor Glioblastoma Global developmental delay - osteopenia - ectodermal defect 2087 Glomerulonephritis - sparse hair - telangiectasis 3 < Glossopalatine ankylosis Glucose-galactose malabsorption Glutaryl-CoA dehydrogenase 1** 32 Glutathione synthetase Glycine encephalopathy Glycogen storage disease due to acid maltase 2088 Glycogen storage disease due to GLUT2 367 Glycogen storage disease due to glycogen branching enzyme 2089 Glycogen storage disease due to hepatic glycogen synthase Glycogen storage disease due to LAMP Glycogen storage disease due to muscle and heart glycogen synthase 371 Glycogen storage disease due to muscle phosphofructokinase 715 Glycogen storage disease due to muscle phosphorylase kinase 713 Glycogen storage disease due to phosphoglycerate kinase Glycogen storage disease due to phosphoglycerate mutase 0.8** 0.1** < < 30 < < Goldberg-Shprintzen megacolon Goldblatt Goldenhar Goldmann-Favre < Gollop-Wolfgang complex Gómez-López-Hernández Gonadal dysgenesis, XY - associated anomalies or Goodman 3 73 Gorham-Stout disease < Gorlin Gorlin-Chaudhry-Moss GRACILE 2** Graft versus host disease Grange Granulomatosis with polyangiitis Granulomatous arthritis of childhood Granulomatous slack skin < Gräsbeck-Imerslund disease Gray platelet Greenberg dysplasia < Greig cephalopolysyndactyly Griscelli disease Growth - brachydactyly - dysmorphism Growth delay due to insulin-like growth factor GTP cyclohydrolase I Guanidinoacetate methyltransferase Guillain-Barré H Haim-Munk < Hair defect - photosensitivity - intellectual disability Hairy cell leukemia 3.12* Hallermann-Streiff < Harlequin ichthyosis < Hartnup Hartsfield-Bixler-Demyer Hashimoto-Pritzker < Heart defects - limb shortening HEC Heinz body anemia < Helicoid peripapillary chorioretinal degeneration 2130 Hemimelia Hemolytic anemia due to adenylate kinase * Lifetime ** Prevalence at birth Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - May

15 712 Hemolytic anemia due to glucophosphate isomerase Hemolytic anemia due to glutathione reductase 448 Hemophilia Hemophilia A Hemophilia B Hemorrhagic disease due to alpha-1- antitrypsin Pittsburgh mutation or Hennekam > Hennekam-Beemer Hepatic veno-occlusive disease Hepatic veno-occlusive disease - immuno 449 Hepatoblastoma Hepatocellular carcinoma Hepatosplenic T-cell lymphoma Hereditary angioedema Hereditary breast and ovarian cancer Hereditary chronic pancreatitis Hereditary cryohydrocytosis with reduced stomatin 288 Hereditary elliptocytosis 35 < Hereditary folate malabsorption Hereditary fructose intolerance Hereditary hemorrhagic telangiectasia Hereditary hyperferritinemia with congenital cataracts Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia 2590 Hereditary myoclonus - progressive distal muscular atrophy Hereditary myopathy with lactic acidosis due to ISCU > < Hereditary neurocutaneous angioma < Hereditary North American Indian childhood cirrhosis Hereditary orotic aciduria < Hereditary progressive mucinous histiocytosis Hereditary proximal myopathy with early respiratory failure 970 Hereditary sensory and autonomic neuropathy Hereditary sensory and autonomic neuropathy with deafness and global delay 685 Hereditary spastic paraplegia Hereditary spherocytosis Hereditary thrombophilia due to congenital protein C 0.2 < Hereditary thrombophilia due to congenital protein S or Hereditary vascular retinopathy 3467 Hereditary xanthinuria Hermansky-Pudlak Hermansky-Pudlak with neutropenia HERNS Hidrotic ectodermal dysplasia Hidrotic ectodermal dysplasia, Christianson- Fourie Hidrotic ectodermal dysplasia, Halal Hirschsprung disease 12.1** 2155 Hirschsprung disease - deafness - polydactyly Hirschsprung disease - nail hypoplasia - dysmorphism Hirschsprung disease - D brachydactyly Hodgkin lymphoma Holmes-Gang Holoprosencephaly 13.4** 392 Holt-Oram 0.4** 2168 Homocarnosinosis Homocystinuria without methylmalonic aciduria HSD10 disease, atypical Humero-radial synostosis Humero-radio-ulnar synostosis Humerospinal dysostosis Humero-ulnar synostosis Hunter-McAlpine craniosynostosis Huntington disease Hurler Hurler-Scheie Hutchinson-Gilford progeria Hydrocephalus - blue sclerae - nephropathy 2180 Hydrocephalus - costovertebral dysplasia - Sprengel anomaly 2182 Hydrocephalus with stenosis of aqueduct of Sylvius Hydrocephaly - tall stature - joint laxity Hydrolethalus 5** Hyperandrogenism due to cortisone reductase Hypercholesterolemia due to cholesterol 7alpha-hydroxylase Hypercoagulability due to glycosylphosphatidylinositol Hyperekplexia - epilepsy Hypereosinophilic 1.5 * Lifetime ** Prevalence at birth Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - May

16 343 Hyperimmunoglobulinemia D with periodic fever 682 Hyperkalemic periodic paralysis 0.5 or Hyperkeratosis-hyperpigmentation Hyperlipoproteinemia Hyperlipoproteinemia Hypernychthemeral Hyperornithinemia-hyperammonemiahomocitrullinuria Hyperplastic polyposis Hypertelorism, Teebi Hypertrichosis cubiti - short stature Hypertrichosis lanuginosa congenita < Hypertrichosis-acromegaloid facial appearence 12 < Hypertrichotic osteochondrodysplasia Hypertrichotic osteochondrodysplasia, Cantu 429 Hypochondroplasia Hypocomplementemic urticarial vasculitis < Hypoglossia - hypodactyly < Hypogonadotropic hypogonadism - retinitis pigmentosa 1882 Hypohidrotic ectodermal dysplasia - hypothyroidism - ciliary dyskinesia 681 Hypokalemic periodic paralysis Hypomandibular faciocranial dysostosis Hypomyelination - congenital cataract Hypomyelination - hypogonadotropic hypogonadism - hypodontia Hypomyelination with atrophy of basal ganglia and cerebellum Hypoparathyroidism - deafness - renal disease Hypophosphatasia 0.21** 2244 Hypopituitarism - microphthalmia < Hypopituitarism - postaxial polydactyly Hypoplastic left heart 15.1** Hypospadias - hypertelorism - coloboma and deafness Hypotonia - cystinuria Hypotonia with lactic acidemia and hyperammonemia Hypotrichosis - lymphedema - telangiectasia Hypotrichosis simplex Hypotrichosis with juvenile macular degeneration 2266 Hypotrichosis-intellectual disability, Lopes 50 2 or Iatrogenic botulism > IBIDS ICF Ichthyosis - alopecia - eclabion - ectropion - intellectual disability 2274 Ichthyosis - hepatosplenomegaly - cerebellar degeneration Ichthyosis - hypotrichosis - sclerosing cholangitis 4 2 < Ichthyosis - oral and digital anomalies Ichthyosis follicularis - alopecia - photophobia > Ichthyosis prematurity Ichthyosis-hypotrichosis Idiopathic achalasia Idiopathic acute eosinophilic pneumonia > Idiopathic and/or familial pulmonary arterial hypertension Idiopathic aplastic anemia Idiopathic hypereosinophilic Idiopathic neonatal atrial flutter 2** 2032 Idiopathic pulmonary fibrosis Idiopathic steroid-sensitive nephrotic IMAGe < Iminoglycinuria Immune dysregulation-polyendocrinopathyenteropathy-x-linked 3002 Immune thrombocytopenic purpura Immuno by defective expression of HLA class Immuno due to CD Immuno due to interleukin-1 receptor-associated kinase Immuno due to selective antipolysaccharide antibody Immuno with natural-killer cell and adrenal insufficiency Inappropriate antidiuretic hormone secretion Incessant infant ventricular tachycardia 1.5** 611 Inclusion body myositis Incontinentia pigmenti 0.7** Indolent systemic mastocytosis 3.8 < Infant epilepsy with migrant focal crisis Infantile choroidocerebral calcification 10 * Lifetime ** Prevalence at birth Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - May

17 or Infantile neuroaxonal dystrophy > Infantile onset spinocerebellar ataxia Inflammatory pseudotumor of the liver Inhalational botulism Inherited congenital spastic tetraplegia Inherited epidermolysis bullosa intellectual disability - cataracts - kyphosis intellectual disability - dysmorphism - hypogonadism - diabetes mellitus 1495 intellectual disability - hypoplastic corpus callosum - preauricular tag 3051 intellectual disability - sparse hair - brachydactyly intellectual disability, Birk-Barel intellectual disability, X-linked - acromegaly - hyperactivity intellectual disability, X-linked - craniofacioskeletal intellectual disability, X-linked - cubitus valgus - dysmorphism 1568 intellectual disability, X-linked - Dandy-Walker malformation - basal ganglia disease - Seizures 2958 intellectual disability, X-linked - dysmorphism - cerebral atrophy intellectual disability, X-linked - epilepsy - progressive joint contractures - dysmorphism intellectual disability, X-linked - hypogammaglobulinemia - progressive neurological deterioration intellectual disability, X-linked - hypogonadism - ichthyosis - obesity - short stature intellectual disability, X-linked - hypotonia - facial dysmorphism - aggressive behavior intellectual disability, X-linked - macrocephaly - macro-orchidism intellectual disability, X-linked - plagiocephaly intellectual disability, X-linked - precocious puberty - obesity 3077 intellectual disability, X-linked - psychosis - macroorchidism 3052 intellectual disability, X-linked - seizures - psoriasis intellectual disability, X-linked, Abidi intellectual disability, X-linked, Armfield intellectual disability, X-linked, Cantagrel intellectual disability, X-linked, Kroes intellectual disability, X-linked, Miles- Carpenter intellectual disability, X-linked, Pai intellectual disability, X-linked, Schimke intellectual disability, X-linked, Seemanova or intellectual disability, X-linked, Shashi intellectual disability, X-linked, Shrimpton intellectual disability, X-linked, Siderius intellectual disability, X-linked, Snyder intellectual disability, X-linked, Stevenson intellectual disability, X-linked, Stocco Dos Santos intellectual disability, X-linked, Vitale intellectual disability, X-linked, Wilson intellectual disability, X-linked, Wittwer intellectual disability, X-linked, Zorick Intellectual disability-developmental delaycontractures Internal carotid agenesis Interstitial granulomatous dermatitis with arthritis Intractable diarrhea - choanal atresia - eye anomalies IRIDA IRVAN < 30 6 Isolated 3-methylcrotonyl-CoA carboxylase 2.3** 1048 Isolated anencephaly/exencephaly 35** Isolated aniridia Isolated anophthalmia - microphthalmia Isolated anorectal malformation Isolated anterior cervical hypertrichosis < Isolated brachycephaly Isolated cloverleaf skull Isolated congenital anosmia < Isolated Dandy-Walker malformation 2.1** 2345 Isolated Klippel-Feil Isolated Pierre Robin 5** Isolated plagiocephaly Isolated scaphocephaly Isolated spina bifida 18.6** 3366 Isolated trigonocephaly Isotretinoin-like 6 33 Isovaleric acidemia IVIC Jackson-Weiss Jacobsen Jalili 49 * Lifetime ** Prevalence at birth Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - May

18 90647 Jervell and Lange-Nielsen 0.3 or 2315 Johanson-Blizzard Joubert Joubert and related disorders 1.1** 1454 Joubert with hepatic defect Joubert with orofaciodigital defect Juberg-Hayward Juberg-Marsidi Junctional epidermolysis bullosa Juvenile chronic recurrent multifocal osteomyelitis > Juvenile hyaline fibromatosis Juvenile myelomonocytic leukemia Juvenile neuronal ceroid lipofuscinosis Juvenile Paget disease Juvenile polyposis of infancy Juvenile psoriatic arthritis Juvenile rheumatoid factor-negative polyarthritis Juvenile rheumatoid factor-positive polyarthritis Juvenile temporal arteritis Kabuki Kahrizi Kaler-Garrity-Stern Kallmann Kallmann - heart disease Kaposi's sarcoma Kapur-Toriello Kasabach-Merritt > KBG Kearns-Sayre Kennedy disease 1.7** 2339 Keratosis follicularis - dwarfism - cerebral atrophy Keratosis palmaris et plantaris - clinodactyly < Ketoacidosis due to beta-ketothiolase KID < Kimura disease Kozlowski-Brown-Hardwick Krabbe disease 1** 2355 Kumar-Levick 2363 Lacrimo-auriculo-dento-digital Lambert-Eaton myasthenic Laminopathy Decaudain-Vigouroux Langerhans cell histiocytosis Large congenital melanocytic nevus Laron 0.2 or Laron with immuno < Laryngeal abductor paralysis - intellectual disability 2004 Laryngo-tracheo-esophageal cleft 7.5** < Lathosterolosis < LCAT Leber congenital amaurosis Leber hereditary optic neuropathy Leber 'plus' disease Legionellosis Leigh 2.75** Lelis Lennox-Gastaut Lenz-Majewski hyperostotic dwarfism LEOPARD Lesch-Nyhan 0.34** 1187 Lethal ataxia with deafness and optic atrophy Lethal faciocardiomelic dysplasia Lethal hemolytic anemia - genital anomalies Lethal Kniest-like dysplasia Lethal Larsen-like < Lethal multiple pterygium Lethal omphalocele-cleft palate Lethal osteosclerotic bone dysplasia Lethal polymalformative, Boissel Lethal recessive chondrodysplasia Lethal restrictive dermopathy Letterer-Siwe disease Leukocyte adhesion < Leukocyte adhesion II < Leukocyte adhesion III Leukoencephalopathy - ataxia - hypodontia - hypomyelination Leukoencephalopathy - dystonia - motor neuropathy Leukoencephalopathy - metaphyseal chondrodysplasia Leukoencephalopathy with bilateral anterior temporal lobe cysts Leukoencephalopathy with brain stem and spinal cord involvement - high lactate 2386 Leukoencephalopathy-palmoplantar keratoderma * Lifetime ** Prevalence at birth Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - May

19 Leukonychia totalis - acanthosis-nigricans-like lesions - abnormal hair or Lewis-Pashayan Lewis-Sumner Lhermitte-Duclos disease Lichstenstein Liddle Ligneous conjunctivitis Limb body wall complex 2** 263 Limb-girdle muscular dystrophy Limb-mammary Limited cutaneous systemic sclerosis Linear atrophoderma of Moulin < Lipodystrophy - intellectual disability - deafness Lipoid proteinosis > Lissencephaly due to TUBA1A mutation < Lissencephaly 3 - familial fetal akinesia sequence Lissencephaly 3 - metacarpal bone dysplasia Loeys-Dietz 10 5 Long chain 3-hydroxyacyl-CoA dehydrogenase 2621 Low birth weight - dwarfism - dysgammaglobulinemia 1** Lowry-Wood < Lung fibrosis - immuno - 46,XX gonadal dysgenesis 538 Lymphangioleiomyomatosis Lymphatic malformation Lymphedema - atrial septal defects - facial changes Lymphedema - cerebral arteriovenous anomaly Lysinuric protein intolerance 1.7** Macrocephaly - immune - anemia Macrocephaly - short stature - paraplegia Macrocephaly-autism < Macrostomia - preauricular tags - external ophthalmoplegia Macular coloboma - cleft palate - hallux valgus Macular corneal dystrophy Madras motor neuron disease Maffucci Malakoplakia > Malaria 3 or 679 Malignant atrophic papulosis > Malignant fibrous histiocytoma Malignant hyperthermia - arthrogryposis - torticollis Malignant peritoneal mesothelioma Malignant tumor of fallopian tubes Malonic aciduria MALT lymphoma Mandibuloacral dysplasia Mandibulofacial dysostosis-microcephaly Mantle cell lymphoma Marden-Walker < Marfan Marie Unna hereditary hypotrichosis > Marinesco-Sjögren Marshall > Marshall with periodic fever Marshall-Smith Martínez-Frías Mastocytosis Maternal hyperphenylalaninemia Maternally-inherited diabetes and deafness Matthew-Wood Mayer-Rokitansky-Küster-Hauser Mazabraud McCune-Albright McLeod neuroacanthocytosis Meacham < Meckel 0.2** Meconium aspiration Median cleft lip/mandibule Medium chain acyl-coa dehydrogenase 12** MEDNIK Medullary thyroid carcinoma Megacystis-microcolon-intestinal hypoperistalsis 2478 Megalencephalic leukoencephalopathy with subcortical cysts Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus Megalencephaly-capillary malformationpolymicrogyria 230 < * Lifetime ** Prevalence at birth Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - May

20 or MEHMO Melorheostosis Ménière disease Menkes disease 0.33** 551 MERRF Mesoaxial synostotic syndactyly with phalangeal reduction Mesothelioma Metachondromatosis Metachromatic leukodystrophy Metaphyseal acroscyphodysplasia Metaphyseal anadysplasia Metaphyseal chondrodysplasia - retinitis pigmentosa Metaphyseal chondrodysplasia, Jansen Metaphyseal chondrodysplasia, Kaitila Metatropic dysplasia Methimazole embryofetopathy Methylcobalamin cble Methylcobalamin cblg Methylmalonic acidemia with homocystinuria > Methylmalonic acidemia with homocystinuria, cblc Methylmalonic acidemia with homocystinuria, cbld Methylmalonic acidemia with homocystinuria, cblf Mevalonic aciduria MGAT2-CDG Michels Micro Microbrachycephaly - ptosis - cleft lip Microcephalic osteodysplastic dysplasia, Saul- Wilson 2636 Microcephalic osteodysplastic primordial dwarfism s I and III 4 < Microcephaly - brachydactyly - kyphoscoliosis Microcephaly - cardiomyopathy Microcephaly - cleft palate Microcephaly - digital anomalies - intellectual disability 2172 Microcephaly - glomerulonephritis - marfanoid habitus Microcephaly - intellectual disability - phalangeal and neurological anomalies Microcephaly - polymicrogyria - corpus callosum agenesis 2519 Microcephaly - seizures - intellectual disability - heart disease or Microcytic anemia with liver iron overload Microgastria - limb reduction defect Microlissencephaly - micromelia Microphthalmia - brain atrophy Microphthalmia with brain and digit anomalies Microphthalmia with limb anomalies > Microphthalmia with linear skin defects Microtia 13** Microtia - eye coloboma - imperforation of the nasolacrimal duct Mild hemophilia A Mild hemophilia B Miller-Dieker 1** 3004 Mirror polydactyly - vertebral segmentation - limbs defects 1933 Mitochondrial DNA depletion, encephalomyopathic form with methylmalonic aciduria 2598 Mitochondrial myopathy and sideroblastic anemia 298 Mitochondrial neurogastrointestinal encephalomyopathy 2443 Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies 0.3** Mixed connective tissue disease 3.8 < Mixed dystonia Miyoshi myopathy Moderately severe hemophilia A Moderately severe hemophilia B Moebius Mohr-Tranebjaerg > Monoclonal Ig light chain-associated Fanconi Mononen-Karnes-Senac Monosomy 18p < Monosomy 21 < Monosomy 22q13 > Monosomy 5p 4** Monosomy 9q Moore-Federman Mosaic variegated aneuploidy Mounier-Kühn > Mowat-Wilson < Moyamoya disease 0.33 * Lifetime ** Prevalence at birth Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - May