{"orpha":2003,"name":"Cleft lip/palate-deafness-sacral lipoma syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Cleft lip/palate-hearing loss-sacral lipoma syndrome","Lowry-Yong syndrome"],"definition":"Cleft lip/palate-deafness-sacral lipoma syndrome is characterised by cleft lip/palate, profound sensorineural deafness, and a sacral lipoma. It has been described in two brothers of Chinese origin born to non consanguineous parents. Additional findings included appendages on the heel and thigh, or anterior sacral meningocele and dislocated hip. The mode of inheritance is probably autosomal or X-linked recessive.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2003/","orphanet_url":"https://www.orpha.net/en/disease/detail/2003","names":{"fr":{"name":"Syndrome de fente labiopalatine-surdité-lipome sacré","synonyms":["Syndrome de Lowry-Yong"],"definition":"Syndrome de fente labio-palatine-surdité-lipome sacré est caractérisé par une fente labio-palatine, une surdité neuro-sensorielle sévère et un lipome sacré. Il a été décrit chez deux frères d'origine chinoise, nés de parents non consanguins. Les autres manifestations incluent des appendices sur le talon et la cuisse, ou un méningocèle sacré antérieur et une luxation de la hanche. Le mode de transmission est probablement récessif autosomique ou lié à l'X."},"de":{"name":"Lippen-Kiefer-Gaumenspalte - Schwerhörigkeit - Sakrallipom","synonyms":["Lowry-Yong-Syndrom"]},"es":{"name":"Síndrome de fisura labiopalatina-sordera-lipoma sacro","synonyms":["Síndrome de Lowry-Yong","Síndrome de fisura labiopalatina-hipoacusia-lipoma sacro"],"definition":"E s un síndrome caracterizado por fisura labiopalatina, sordera neurosensorial profunda y un lipoma sacro. Se ha descrito en dos hermanos de origen chino nacidos de padres no consanguíneos. Los hallazgos adicionales incluyeron apéndices en el talón y el muslo, o meningocele sacro anterior y luxación de la cadera. El modo de herencia es probablemente autosómico recesivo o ligado al cromosoma X."},"it":{"name":"Labiopalatoschisi - sordità - lipoma sacrale","synonyms":["Sindrome di Lowry-Yong"]},"nl":{"name":"Gespleten lip/gehemelte - doofheid - sacraal lipoom-syndroom","synonyms":["Gespleten lip/gehemelte - gehoorverlies - sacraal lipoom-syndroom","Syndroom van Lowry-Yong"],"definition":"Een syndroom, gekenmerkt door gespleten lip/gehemelte, zeer ernstige sensorineurale doofheid, en een sacraal lipoom. Het werd beschreven bij twee broers van Chinese oorsprong met niet-bloedverwante ouders. Bijkomende bevindingen zijn onder meer aanhangsels op hiel en dij, of anterieure sacrale meningocele en luxatie van heup. Overerving gebeurt waarschijnlijk autosomaal of X-gebonden recessief."},"pt":{"name":"Síndrome de fenda lábio-palatina-surdez-lipoma sagrado","synonyms":["Síndrome Lowry-Yong"]},"pl":{"name":"Rozszczep wargi/podniebienia - głuchota - tłuszczak kości krzyżowej","synonyms":["Zespół Lowry'ego i Yonga"]},"cs":{"name":"Syndrom zahrnující rozštěp rtu/patra, hluchotu a sakrální lipom","synonyms":["Lowryho-Yongův syndrom","Lowry-Yongův syndrom"]},"uk":{"name":"Синдром розщілини губи/піднебіння-глухоти-сакральної ліпоми","synonyms":["Синдром розщілини губи/піднебіння - втрата слуху - сакральна ліпома","Синдром Лоурі-Йонга"],"definition":"Cleft lip/palate-deafness-sacral lipoma syndrome is characterised by cleft lip/palate, profound sensorineural deafness, and a sacral lipoma. It has been described in two brothers of Chinese origin born to non consanguineous parents. Additional findings included appendages on the heel and thigh, or anterior sacral meningocele and dislocated hip. The mode of inheritance is probably autosomal or X-linked recessive."},"zh":{"name":"唇/腭裂-耳聋-骶脂肪瘤综合征","synonyms":["唇/腭裂-耳聋-骶脂肪瘤综合征"]},"tr":{"name":"Yarık dudak / damak-sağırlık-sakral lipom sendromu","synonyms":["Lowry-Yong sendromu","Yarık dudak / damak-işitme kaybı-sakral lipom sendromu"]}},"xrefs":[{"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":"303202166"},{"source":"MONDO","code":"0016059","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4274888","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":139039,"name":"Orofacial clefting syndrome","classifications":[147,156,200,209]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_2002486[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"2002486[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0005273","label":"Absent nasal septal cartilage","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000457","label":"Depressed nasal ridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000324","label":"Facial asymmetry","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002827","label":"Hip dislocation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100559","label":"Lower limb asymmetry","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002435","label":"Meningocele","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100335","label":"Non-midline cleft of the upper lip","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012033","label":"Sacral lipoma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008625","label":"Severe sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002209","label":"Sparse scalp hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009804","label":"Tooth agenesis","frequency":"Very frequent (99-80%)","criteria":null}]}}