{"orpha":3454,"name":"Wieacker-Wolff syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Foot contractures-muscle atrophy-oculomotor apraxia syndrome"],"definition":"Intellectual disability-developmental delay-contractures syndrome, formerly known as Wieacker-Wolff syndrome, is a severe X-linked recessive neurodevelopmental disorder characterized by severe contractures (arthrogryposis) and intellectual disability.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3454/","orphanet_url":"https://www.orpha.net/en/disease/detail/3454","names":{"fr":{"name":"Syndrome de Wieacker-Wolff","synonyms":["Syndrome des contractures du pied-atrophie musculaire-apraxie oculomotrice"],"definition":"Le syndrome de déficience intellectuelle-retard de développement-contractures, anciennement connu sous le nom de syndrome de Wieacker-Wolff, est un trouble neuro-développemental récessif lié à l'X sévère, caractérisé par des contractures sévères (arthrogrypose) et une déficience intellectuelle."},"de":{"name":"Wieacker-Wolff-Syndrom","synonyms":["Fußkontrakturen-Muskelatrophie-okulomotorische Apraxie-Syndrom"],"definition":"Das Intelligenzminderung-Entwicklungsverzögerung-Kontrakturen-Syndrom, früher bekannt als Wieacker-Wolff-Syndrom, ist eine schwere X-chromosomal-rezessive neurologische Entwicklungsstörung, die durch schwere Kontrakturen (Arthrogrypose; siehe diesen Begriff) und Intelligenzminderung gekennzeichnet ist."},"es":{"name":"Síndrome de Wieacker-Wolff","synonyms":["Síndrome de contracturas en los pies-atrofia muscular-apraxia oculomotora"],"definition":"Es un grave trastorno del neurodesarrollo recesivo ligado al cromosoma X, caracterizado por graves contracturas (artrogriposis) y discapacidad intelectual."},"it":{"name":"Sindrome di Wieacker-Wolff","synonyms":["Sindrome contratture dei piedi-atrofia muscolare-aprassia oculomotoria","Sindrome di Wieacker-Wolff"]},"nl":{"name":"Syndroom van Wieacker-Wolff","synonyms":["Voetcontracturen - spieratrofie - oculomotorische apraxie-syndroom"],"definition":"Intellectuele achterstand - ontwikkelingsachterstand - contracturen-syndroom, voorheen gekend als syndroom van Wieacker-Wolff, is een ernstige X-gebonden recessieve neurologische ontwikkelingsstoornis die gekarakteriseerd wordt door ernstige contracturen (artrogrypose; zie deze term) en intellectuele achterstand."},"pt":{"name":"Síndrome de perturbação do desenvolvimento intelectual-atraso do desenvolvimento-contraturas","synonyms":["Síndrome Wieacker-Wolff","Síndrome de contraturas dos pés-atrofia muscular-apraxia oculomotora"]},"pl":{"name":"Zespół niepełnosprawności intelektualnej, opóźnienia w rozwoju i przykurczy","synonyms":["Przykurcze stopy - atrofia mięśni - apraksja oczno-mięśniowa","Zespół Wieackera i Wolffa"]},"cs":{"name":"Syndrom zahrnující mentální retardaci, opoždění vývoje a kontraktury","synonyms":["Syndrom zahrnující kontraktury nohy, svalovou atrofii a okulomotorickou apraxii","Wieackerův-Wolffův syndrom","Wieacker-Wolffův syndrom"]},"uk":{"name":"Синдром інтелектуальної недостатності-затримки розвитку-контрактур","synonyms":["Синдром контрактури стоп - атрофії мязів - окуломоторної апраксії","Синдром Віакера-Вольфа"],"definition":"Intellectual disability-developmental delay-contractures syndrome, formerly known as Wieacker-Wolff syndrome, is a severe X-linked recessive neurodevelopmental disorder characterized by severe contractures (arthrogryposis; see this term) and intellectual disability."},"zh":{"name":"智力障碍-发育迟缓-挛缩综合征","synonyms":["足挛缩-肌萎缩-动眼运用不能综合征"]},"tr":{"name":"Zihinsel yetersizlik-gelişme geriliği-kontraktür sendromu","synonyms":["Wieacker-Wolff sendromu","Ayak kontraktürleri-kas atrofisi-okülomotor apraksi sendromu"]}},"xrefs":[{"source":"OMIM","code":"301041","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"314580","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010758","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536703","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0796200","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7890","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":85283,"name":"X-linked intellectual disability, Miles-Carpenter type","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":1037,"name":"Arthrogryposis multiplex congenita","classifications":[147,156]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":206634,"name":"Genetic skeletal muscle disease","classifications":[156,181]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]}],"children":[],"genes":[{"symbol":"ZC4H2","name":"zinc finger C4H2-type containing","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23623388[PMID]","hgnc":"24931","ensembl":"ENSG00000126970","omim":"300897","loci":["Xq11.2"]}],"genes_via_subtypes":[],"inheritance":["Not applicable","X-linked recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_23623388[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000496","label":"Abnormality of eye movement","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100022","label":"Abnormality of movement","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005745","label":"Congenital foot contractures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003693","label":"Distal amyotrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001376","label":"Limitation of joint mobility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000657","label":"Oculomotor apraxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null}]}}