{"orpha":1231,"name":"Barber-Say syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Hypertrichosis-atrophic skin-ectropion-macrostomia syndrome"],"definition":"A rare congenital malformation syndrome with neonatal onset characterized by congenital generalized hypertrichosis, redundant skin and facial dysmorphism such as ectropion and macrostomia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1231/","orphanet_url":"https://www.orpha.net/en/disease/detail/1231","names":{"fr":{"name":"Syndrome de Barber-Say","synonyms":["Syndrome d'hypertrichose-atrophie cutanée-ectropion-macrostomie"],"definition":"Le syndrome de Barber-Say (SBS) est une dysplasie ectodermique rare, d'apparition néonatale et caractérisée par une hypertrichose congénitale généralisée, une peau atrophiée, un ectropion et une microstomie."},"de":{"name":"Barber-Say-Syndrom","synonyms":["Hypertrichose - Hautatrophie - Ektropium - Makrostomie"],"definition":"Das Barber Say-Syndrom (BSS) ist eine seltene ektodermale Dysplasie mit Beginn in der Neonatalperiode. Symptome sind: Kongenitale generalisierte Hypertrichose, atrophische Haut, Ektropion und Mikrostomie."},"es":{"name":"Síndrome de Barber-Say","definition":"El síndrome de Barber Say (BSS) es una displasia ectodérmica poco frecuente de aparición neonatal caracterizada por hipertricosis congénita generalizada, piel atrófica, ectropión y microstomía."},"it":{"name":"Sindrome di Barber-Say","synonyms":["Ipertricosi - atrofia cutanea - ectropion - macrostomia"],"definition":"La sindrome di Barber-Say (BSS) è una displasia ectodermica rara ad esordio neonatale, caratterizzata da ipertricosi generalizzata congenita, atrofia cutanea, ectropion e microstomia."},"nl":{"name":"Syndroom van Barber-Say","synonyms":["Hypertrichose - atrofische huid - ectropion - macrostomie-syndroom"],"definition":"Barber Saysyndroom (BSS) is een zeldzame ectodermale dysplasie met neonatale aanvang, gekenmerkt door aangeboren gegeneraliseerde hypertrichose, atrofische huid, ectropion en microstomie."},"pt":{"name":"Síndrome Barber-Say","synonyms":["Hipertricose-atrofia cutânea-ectropion-macrostomia"]},"pl":{"name":"Zespół Barbera i Say","synonyms":["Hipertrichoza - skóra atroficzna - ektropion - makrostomia"]},"cs":{"name":"Barberův-Sayův syndrom","synonyms":["Syndrom zahrnující hypertrichózu, atrofickou kůži, ektropion a makrostomii","Barber-Sayův syndrom"]},"uk":{"name":"Синдром Барбера-Сея","synonyms":["Синдром гіпертрихозу-атрофічної шкіри-ектропіону-макростомії"],"definition":"Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia."},"zh":{"name":"Barber-Say综合征","synonyms":["多毛-皮肤萎缩-睑外翻-大口畸形综合征"]},"tr":{"name":"Barber-Say sendromu","synonyms":["Hipertrikoz-atrofik deri-ektropiyon-makrostomi sendromu"]}},"xrefs":[{"source":"OMIM","code":"209885","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD27.3","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"37248895"},{"source":"MONDO","code":"0008853","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537908","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1319466","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"819","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":79373,"name":"Ectodermal dysplasia syndrome","classifications":[147,156,187]},{"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":79365,"name":"Rare disorder with hypertrichosis","classifications":[156,187]},{"orpha":98571,"name":"Secondary ectropion","classifications":[147,156,189]}],"children":[],"genes":[{"symbol":"TWIST2","name":"twist family bHLH transcription factor 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26119818[PMID]","hgnc":"20670","ensembl":"ENSG00000233608","omim":"607556","loci":["2q37.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":16.0,"area":"Worldwide","status":"Validated","source":"27196381[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_27196381[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000271","label":"Abnormality of the face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100840","label":"Aplasia/Hypoplasia of the eyebrow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008065","label":"Aplasia/Hypoplasia of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000414","label":"Bulbous nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000684","label":"Delayed eruption of teeth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000656","label":"Ectropion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002230","label":"Generalized hirsutism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001582","label":"Redundant skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200102","label":"Sparse or absent eyelashes","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000154","label":"Wide mouth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100783","label":"Breast aplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000974","label":"Hyperextensible skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002557","label":"Hypoplastic nipples","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011224","label":"Ablepharon","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000377","label":"Abnormal pinna morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000413","label":"Atresia of the external auditory canal","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000049","label":"Shawl scrotum","frequency":"Occasional (29-5%)","criteria":null}]}}