{"orpha":2533,"name":"Microcephaly-deafness-intellectual disability syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Kawashima-Tsuji syndrome","Microcephaly-hearing loss-intellectual disability syndrome"],"definition":"Microcephaly-deafness-intellectual disability syndrome is characterised by microcephaly, deafness, intellectual deficit and facial dysmorphism (facial asymmetry, prominent glabella, low-set and cup-shaped ears, protruding lower lip, micrognathia). It has been described in a mother and her son. The mode of inheritance is probably autosomal dominant.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2533/","orphanet_url":"https://www.orpha.net/en/disease/detail/2533","names":{"fr":{"name":"Syndrome de microcéphalie-surdité-déficience intellectuelle","synonyms":["Syndrome de Kawashima-Tsuji"],"definition":"Le syndrome de microcéphalie-surdité-déficience intellectuelle est caractérisé par une microcéphalie, une surdité, un déficit intellectuel et une dysmorphie (asymétrie faciale, glabelle proéminente, oreilles malformées et bas implantées, lèvre inférieure proéminente, micrognathie). Il a été décrit chez une mère et son fils. Le mode de transmission est probablement autosomique dominant."},"de":{"name":"Mikrozephalie-Schwerhörigkeit-Intelligenzminderung-Syndrom","synonyms":["Kawashima-Tsuji-Syndrom","Mikrozephalie mit Hörverlust und Intelligenzminderung"],"definition":"Dieses Syndrom ist gekennzeichnet durch Mikrozephalie, Schwerhörigkeit, intellektuelles Defizit und faziale Dysmorphien (Gesichtsasymmetrie, prominente Glabella, tiefsitzende und becherförmige Ohren, prominente Unterlippe, Mikrogenie). Es wurde bei einer Mutter und ihrem Sohn beschrieben. Die Vererbung ist wahrscheinlich autosomal-dominant."},"es":{"name":"Síndrome de microcefalia-sordera-discapacidad intelectual","synonyms":["Síndrome de microcefalia-hipoacusia-discapacidad intelectual","Síndrome de Kawashima-Tsuji"],"definition":"Es un síndrome caracterizado por microcefalia, sordera, déficit intelectual y dismorfia facial (asimetría facial, glabela prominente, orejas en forma de copa y de implantación baja, labio inferior prominente, micrognatia). Se ha descrito en una madre y su hijo. El modo de herencia probablemente sea autosómico dominante."},"it":{"name":"Sindrome microcefalia-sordità-disabilità intellettiva","synonyms":["Sindrome di Kawashima-Tsuji","Sindrome microcefalia-perdita dell'udito-disabilità intellettiva"]},"nl":{"name":"Microcefalie - doofheid - intellectuele achterstand-syndroom","synonyms":["Microcefalie - gehoorverlies - intellectuele achterstand-syndroom","Syndroom van Kawashima-Tsuji"],"definition":"Een syndroom, gekenmerkt door microcefalie, doofheid, intellectuele achterstand, en faciale dysmorfie (faciale asymmetrie, prominente glabella, laagstaande en komvormige oren, uitpuilende onderlip, micrognathie). Het werd beschreven bij een moeder en haar zoon. Overerving gebeurt waarschijnlijk autosomaal dominant."},"pt":{"name":"Síndrome de microcefalia-surdez-perturbação do desenvolvimento intelectual","synonyms":["Síndrome Kawashima-Tsuji"]},"pl":{"name":"Małogłowie - głuchota - niepełnosprawność intelektualna","synonyms":["Zespół Kawashima i Tsuji"]},"cs":{"name":"Syndrom zahrnující mikrocefalii, hluchotu a mentální retardaci","synonyms":["Kawashimaové-Tsujiho syndrom","Kawashima-Tsujiho syndrom"]},"uk":{"name":"Синдром мікроцефалії-глухоти-інтелектуальної недостатності","synonyms":["Синдром Кавашима-Тсуджі","Синдром мікроцефалії-глухоти-інтелектуальної недостатності"],"definition":"Microcephaly-deafness-intellectual disability syndrome is characterised by microcephaly, deafness, intellectual deficit and facial dysmorphism (facial asymmetry, prominent glabella, low-set and cup-shaped ears, protruding lower lip, micrognathia). It has been described in a mother and her son. The mode of inheritance is probably autosomal dominant."},"zh":{"name":"小头畸形-耳聋-智力障碍综合征","synonyms":["小头畸形-耳聋-智力障碍综合征"]},"tr":{"name":"Mikrosefali-sağırlık-zihinsel yetersizlik sendromu","synonyms":["Kawashima-Tsuji sendromu","Mikrosefali-işitme kaybı-zihinsel yetersizlik sendromu"]}},"xrefs":[{"source":"OMIM","code":"156620","qualifier":"E","icd_relation":null,"validated":true},{"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":"848838259"},{"source":"MONDO","code":"0007991","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537326","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0796062","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"230","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]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"3608216[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_3608216[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000378","label":"Cupped ear","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000232","label":"Everted lower lip vermilion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000324","label":"Facial asymmetry","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002057","label":"Prominent glabella","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000411","label":"Protruding ear","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000174","label":"Abnormal palate morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000384","label":"Preauricular skin tag","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null}]}}