{"orpha":79107,"name":"Developmental malformations-deafness-dystonia syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Developmental malformations-hearing loss-dystonia syndrome"],"definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by the association of sensorineural hearing loss and a delayed-onset (usually generalized, but may be partial) dystonia syndrome.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79107/","orphanet_url":"https://www.orpha.net/en/disease/detail/79107","names":{"fr":{"name":"Syndrome d'anomalies du développement-surdité-dystonie","definition":"Anomalies congénitales multiples/syndrome dysmorphique rare, associé à une perte auditive neurosensorielle et à un syndrome de dystonie tardive (généralisée dans la plupart des cas, mais pouvant être partielle)."},"de":{"name":"Entwicklungsdefekte-Schwerhörigkeit-Dystonie-Syndrom","definition":"Ein seltenes Syndrom mit multiplen angeborenen Anomalien/Dysmorphien, das durch eine Kombination aus sensorineuralem Hörverlust und einer verzögert auftretenden (in der Regel generalisierten, aber auch partiellen) Dystonie gekennzeichnet ist."},"es":{"name":"Síndrome de malformaciones del desarrollo-sordera-distonía","synonyms":["Síndrome de malformaciones del desarrollo-hipoacusia-distonía"],"definition":"Es un síndrome dismórfico/ de múltiples anomalías congénitas poco frecuente caracterizado por la asociación de hipoacusia neurosensorial y de un síndrome distónico de aparición tardía (generalmente generalizado, pero puede ser parcial)."},"it":{"name":"Anomalie dello sviluppo - sordità - distonia"},"nl":{"name":"Ontwikkelingsdefecten - doofheid - dystonie-syndroom","synonyms":["Ontwikkelingsdefecten - gehoorverlies - dystonie-syndroom"],"definition":"Een zeldzaam syndroom met multipele congenitale anomalieën/dysmorfie, gekenmerkt door de associatie van sensorineuraal gehoorverlies en een later optredend (meestal gegeneraliseerd, maar kan partieel zijn) dystoniesyndroom."},"pt":{"name":"Malformações - surdez - distonia"},"pl":{"name":"Malformacje rozwojowe - głuchota - dystonia","synonyms":["Developmental malformations-hearing loss-dystonia syndrome"]},"cs":{"name":"Syndrom zahrnující vývojové malformace, hluchotu a dystonii","synonyms":["DJO","Dystonie s nástupem v dětství"]},"uk":{"name":"Синдром вад розвитку-глухоти-дистонії","synonyms":["Синдром вад розвитку - втрати слуху - дистонії"],"definition":"Developmental malformations-deafness-dystonia syndrome is characterised by the association of midline malformations, sensory hearing loss, and a delayed-onset generalised dystonia syndrome."},"zh":{"name":"发育畸形-耳聋-肌张力障碍综合征","synonyms":["发育畸形-听力丧失-肌张力障碍综合征"]},"tr":{"name":"Gelişimsel malformasyonlar-sağırlık-distoni sendromu","synonyms":["Gelişimsel malformasyonlar-işitme kaybı-distoni sendromu"]}},"xrefs":[{"source":"OMIM","code":"607371","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2H.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"432035250"},{"source":"MONDO","code":"0011823","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4303590","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9818","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":330206,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[156]},{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]},{"orpha":370106,"name":"Rare disorder with dystonia and other neurologic or systemic manifestation","classifications":[156,181]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]},{"orpha":98641,"name":"Syndromic cataract","classifications":[189]},{"orpha":522548,"name":"Syndromic genetic cataract","classifications":[156]}],"children":[],"genes":[{"symbol":"ACTB","name":"actin beta","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"16685646[PMID]","hgnc":"132","ensembl":"ENSG00000075624","omim":"102630","loci":["7p22.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":15.0,"area":"Worldwide","status":"Validated","source":"12325076[PMID]_[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_12325076[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"12325076[PMID]","terms":[{"hpo":"HP:0002571","label":"Achalasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100613","label":"Death in early adulthood","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008796","label":"Externally rotated hips","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007325","label":"Generalized dystonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000348","label":"High forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000882","label":"Hypoplastic scapulae","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002721","label":"Immunodeficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000158","label":"Macroglossia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001268","label":"Mental deterioration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002983","label":"Micromelia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000202","label":"Orofacial cleft","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000618","label":"Blindness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Frequent (79-30%)","criteria":null}]}}