{"orpha":319182,"name":"Wiedemann-Steiner syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome"],"definition":"A rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by short stature, hypertrichosis (most commonly of the back or elbow regions), facial dysmorphism, behavioral problems, developmental delay and, most commonly, mild to moderate intellectual disability.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-319182/","orphanet_url":"https://www.orpha.net/en/disease/detail/319182","names":{"fr":{"name":"Syndrome de Wiedemann-Steiner","synonyms":["Syndrome d'hypertrichose-petite taille-dysmorphie faciale-retard de développement"],"definition":"Anomalies congénitales multiples/syndrome dysmorphique rare, d'origine génétique, caractérisé par une petite taille, une hypertrichose (le plus souvent du dos ou des coudes), une dysmorphie faciale, des troubles du comportement, un retard de développement et, la plupart du temps, une déficience intellectuelle légère à modérée."},"de":{"name":"Wiedemann-Steiner-Syndrom","synonyms":["Hypertrichose-Kleinwuchs-Gesichtsdysmorphie-Entwicklungsverzögerung-Syndrom"],"definition":"Ein seltenes, genetisch bedingtes Syndrom mit multiplen kongenitalen Anomalien/Dysmorphien, das durch Kleinwuchs, Hypertrichose (meist im Bereich des Rückens oder der Ellenbogen), Gesichtsdysmorphie, Verhaltensprobleme, Entwicklungsverzögerung und in den meisten Fällen eine leichte bis mittlere intellektuelle Beeinträchtigung gekennzeichnet ist."},"es":{"name":"Síndrome de Wiedemann-Steiner","synonyms":["Síndrome de hipertricosis-talla baja-dismorfia facial-retraso del desarrollo"],"definition":"Es un síndrome dismórfico/ con múltiples anomalías congénitas, de origen genético y poco frecuente, caracterizado por talla baja, hipertricosis (típicamente en las regiones de la espalda o los codos), dismorfia facial, trastornos de conducta, retraso del desarrollo y, más comúnmente, discapacidad intelectual de leve a moderada."},"it":{"name":"Sindrome di Wiedemann-Steiner","synonyms":["Sindrome ipertricosi-bassa statura-dismorfismi facciali-ritardo dello sviluppo"],"definition":"La sindrome di Wiedemann-Steiner (WSS) è una malattia genetica rara da anomalie/dismorfismi congeniti multipli, caratterizzata da bassa statura, ipertricosi (che interessa prevalentemente la schiena o i gomiti), dismorfismi facciali, problemi comportamentali, ritardo dello sviluppo e disabilità intellettiva, di solito lieve-moderata."},"nl":{"name":"Syndroom van Wiedemann-Steiner","synonyms":["Hypertrichose - kleine gestalte - faciale dysmorfie - ontwikkelingsachterstand-syndroom"],"definition":"Een zeldzaam, genetisch syndroom met multipele congenitale anomalieën/dysmorfie, gekenmerkt door kleine gestalte, hypertrichose (meestal van rug en elleboog), faciale dysmorfie, gedragsproblemen, ontwikkelingsachterstand, en, doorgaans, milde tot matige intellectuele achterstand."},"pt":{"name":"Síndrome Wiedemann-Steiner","synonyms":["Síndrome de hipertricose-baixa estatura-dismorfia facial-atraso no desenvolvimento"],"definition":"Síndrome genética rara de anomalias/dismorfias congénitas múltiplas caracterizada por baixa estatura, hipertricose (mais comummente na região dorsal ou cotovelos), dismorfismo facial, perturbações comportamentais, perturbação do desenvolvimento e, habitualmente, perturbação do desenvolvimento intelectual leve a moderada."},"pl":{"name":"Zespół Wiedemanna i Steinera","synonyms":["Zespół hipertrichoza-niski wzrost-dysmorfia twarzy-opóźnienie rozwoju"]},"cs":{"name":"Wiedemannův-Steinerův syndrom","synonyms":["Syndrom zahrnující hypertrichózu, nízký vzrůst, faciální dysmorfismus a opoždění vývoje","Wiedemann-Steinerův syndrom"]},"uk":{"name":"Синдром Відемана-Штайнера","synonyms":["Синдром гіпертрихозу - низькорослості - дизморфізму обличчя - затримки розвитку"],"definition":"A rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by short stature, hypertrichosis (most commonly of the back or elbow regions), facial dysmorphism, behavioral problems, developmental delay and, most commonly, mild to moderate intellectual disability."},"zh":{"name":"Wiedemann-Steiner综合征","synonyms":["多毛-身材矮小-面部畸形-发育迟缓综合征"],"definition":"Wiedemann-Steiner综合征是一种罕见的遗传性多发性先天性异常/畸形综合征，其特征为身材矮小、肘部多毛、面部畸形（眼距过宽、长睫毛、浓眉、睑裂长而狭窄、鼻梁宽、鼻尖宽、人中长）、发育迟缓，轻度至中度智力障碍。它有一个可变的临床表型，伴有其他表现，包括肌肉张力降低，动脉导管未闭，小手、小脚畸形，背部多毛，行为困难和癫痫发作"},"tr":{"name":"Wiedemann-Steiner sendromu","synonyms":["Hipertrikoz-kısa boy-fasiyal dismorfizm-gelişme geriliği sendromu"]}},"xrefs":[{"source":"OMIM","code":"605130","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0011518","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1854630","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5565","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]}],"children":[],"genes":[{"symbol":"KMT2A","name":"lysine methyltransferase 2A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22795537[PMID]","hgnc":"7132","ensembl":"ENSG00000118058","omim":"159555","loci":["11q23.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":84.0,"area":"Worldwide","status":"Validated","source":"ftp://ftp.sanger.ac.uk/pub/resources/theses/wj1/"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_27777327[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-06-27","source":"29574747[PMID]_2738900[PMID]_2773989[PMID]_10826636[PMID]_12558109[PMID]_18019374[PMID]_20803650[PMID]_25810209[PMID]","terms":[{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000733","label":"Abnormal repetitive mannerisms","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009811","label":"Abnormality of the elbow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005616","label":"Accelerated skeletal maturation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000718","label":"Aggressive behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004540","label":"Congenital, generalized hypertrichosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000824","label":"Decreased response to growth hormone stimulation test","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002194","label":"Delayed gross motor development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000324","label":"Facial asymmetry","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000752","label":"Hyperactivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000527","label":"Long eyelashes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000744","label":"Low frustration tolerance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008897","label":"Postnatal growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000311","label":"Round face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000736","label":"Short attention span","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012745","label":"Short palpebral fissure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001182","label":"Tapered finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000574","label":"Thick eyebrow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000219","label":"Thin upper lip vermilion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001273","label":"Abnormal corpus callosum morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001155","label":"Abnormality of the hand","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006712","label":"Aplasia/Hypoplasia of the ribs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030084","label":"Clinodactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100581","label":"Dilatation of renal calices","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000268","label":"Dolichocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012368","label":"Flat face","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002230","label":"Generalized hirsutism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000348","label":"High forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010485","label":"Hyperextensibility at elbow","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002361","label":"Psychomotor deterioration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008905","label":"Rhizomelia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000960","label":"Sacral dimple","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000664","label":"Synophrys","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000465","label":"Webbed neck","frequency":"Occasional (29-5%)","criteria":null}]}}