{"orpha":896,"name":"Waardenburg syndrome type 3","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Klein-Waardenburg syndrome","WS3","Waardenburg syndrome type III","Waardenburg syndrome with limb anomalies"],"definition":"A very rare subtype of Waardenburg syndrome (WS) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest, resulting in pigmentation anomalies of eyes, hair, and skin.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-896/","orphanet_url":"https://www.orpha.net/en/disease/detail/896","names":{"fr":{"name":"Syndrome de Waardenburg type 3","synonyms":["Syndrome de Klein-Waardenburg","Syndrome de Waardenburg avec anomalies des membres","Syndrome de Waardenburg type III","WS3"],"definition":"Le syndrome de Waardenburg type 3 (WS3) est un sous-type très rare du syndrome de Waardenburg (WS) caractérisé par des anomalies des membres associées à une hypoacousie congénitale et des malformations mineures de structures dérivées de la crête neurale, entraînant des anomalies de pigmentation des yeux, des cheveux et de la peau."},"de":{"name":"Waardenburg-Syndrom Typ 3","synonyms":["Klein-Waardenburg-Syndrom","WS3","Waardenburg-Syndrom Typ III","Waardenburg-Syndrom mit Extremitätenanomalien"],"definition":"Das Waardenburg-Syndrom Typ 3 (WS3) ist ein sehr seltener Subtyp des Waardenburg-Syndroms, der durch Fehlbildungen der Gliedmaßen in Verbindung mit angeborenem Hörverlust und kleineren Defekten in den Strukturen, die sich aus der Neuralleiste entwickeln, gekennzeichnet ist und zu Pigmentanomalien der Augen, der Haare und der Haut führt."},"es":{"name":"Síndrome de Waardenburg tipo 3","synonyms":["Síndrome de Klein-Waardenburg","Síndrome de Waardenburg con anomalías de las extremidades","Síndrome de Waardenburg tipo III","WS3"],"definition":"Es un subtipo muy poco frecuente del síndrome de Waardenburg (SW) caracterizado por anomalías de las extremidades en asociación con una pérdida auditiva congénita y defectos menores en las estructuras derivadas de la cresta neural, que resultan en anomalías de pigmentación de ojos, cabello y piel."},"it":{"name":"Sindrome di Waardenburg, tipo 3","synonyms":["Sindrome di Klein-Waardenburg","Sindrome di Waardenburg con difetti degli arti","WS3"],"definition":"La sindrome di Waardenburg tipo 3 (WS3) è una forma molto rara della sindrome di Waardenburg; è caratterizzata da anomalie degli arti associate a sordità congenita e difetti lievi nelle strutture derivate dalla cresta neurale, che causano anomalie nella pigmentazione degli occhi, dei capelli e della cute."},"nl":{"name":"Syndroom van Waardenburg type 3","synonyms":["Klein-Waardenburgsyndroom","Syndroom van Waardenburg met ledemaatanomalieën","Syndroom van Waardenburg type III","WS3"],"definition":"Een zeer zeldzaam subtype van syndroom van Waardenburg (WS), gekarakteriseerd door ledemaatanomalieën geassocieerd met congenitaal gehoorverlies en kleine defecten aan structuren die ontstaan uit de neurale lijst, met als gevolg anomalieën van de pigmentatie van ogen, haar, en huid."},"pt":{"name":"Síndrome Waardenburg tipo 3","synonyms":["Síndrome Klein-Waardenburg"],"definition":"Subtipo muito raro da síndrome Waardenburg (SW) que se caracteriza por anomalias nos membros associadas a perda auditiva congénita, defeitos menores em estruturas com origem na crista neural, resultando em anomalias de pigmentação nos olhos, cabelo e pele."},"pl":{"name":"Zespół Waardenburga typu 3","synonyms":["WS3","Zespół Klein i Waardenburga","Zespół Waardenburga typu III","Zespół Waardenburga z wadami kończyn"],"definition":"Bardzo rzadki podtyp zespołu Waardenburga z wadami kończyn, którym towarzyszy wrodzony niedosłuch, niewielkie wady struktur wywodzących się z grzebienia nerwowego, co powoduje nieprawidłową pigmentację oczu, włosów i skóry."},"cs":{"name":"Waardenburgův syndrom, typ 3","synonyms":["WS3","Kleinův-Waardenburgův syndrom","Waardenburgův syndrom s anomáliemi končetin","Klein-Waardenburgův syndrom"]},"uk":{"name":"Синдром Ваарденбурга, тип 3","synonyms":["Синдром Кляйна-Варденбурга","Синдром Ваарденбурга, тип III","Синдром Ваарденбурга з аномаліями кінцівок","WS3"],"definition":"A very rare subtype of Waardenburg syndrome (WS) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest, resulting in pigmentation anomalies of eyes, hair, and skin."},"zh":{"name":"Waardenburg综合征3型","synonyms":["Waardenburg综合征伴肢体畸形"]},"tr":{"name":"Waardenburg sendromu tip 3","synonyms":["WS3","Klein-Waardenburg sendromu","Waardenburg sendromu tip III","ekstremite anomalileri olan Waardenburg sendromu"]}},"xrefs":[{"source":"OMIM","code":"148820","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E70.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EC23.2Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"847608197"},{"source":"MONDO","code":"0007862","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0079661","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5523","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98575,"name":"Syndromic telecanthus","classifications":[147,156,189]},{"orpha":3440,"name":"Waardenburg syndrome","classifications":[147,156,187,200]}],"children":[],"genes":[{"symbol":"PAX3","name":"paired box 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"8447316[PMID]_7726174[PMID]_12949970[PMID]","hgnc":"8617","ensembl":"ENSG00000135903","omim":"606597","loci":["2q36.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_Dr Véronique PINGAULT[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001167","label":"Abnormality of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000271","label":"Abnormality of the face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002817","label":"Abnormality of the upper limb","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000581","label":"Blepharophimosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010554","label":"Cutaneous finger syndactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000446","label":"Narrow nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005048","label":"Synostosis of carpal bones","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010804","label":"Tented upper lip vermilion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000574","label":"Thick eyebrow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100750","label":"Atelectasis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011364","label":"White hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001063","label":"Acrocyanosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001258","label":"Spastic paraplegia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002779","label":"Tracheomalacia","frequency":"Occasional (29-5%)","criteria":null}]}}