{"orpha":916,"name":"Aase-Smith syndrome type 1","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Aase-Smith I syndrome","Hydrocephalus-cleft palate-joint contractures syndrome"],"definition":"A rare multiple congenital anomalies/dymorphic syndrome characterized by severe joint contractures, Dandy-Walker malformation with hydrocephalus, and cleft palate. There have been no further descriptions in the literature since 1985.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-916/","orphanet_url":"https://www.orpha.net/en/disease/detail/916","names":{"fr":{"name":"Syndrome d'Aase-Smith type 1","synonyms":["Syndrome d'hydrocéphalie-fente palatine-raideur articulaire"],"definition":"Anomalies congénitales multiples/syndrome dysmorphique caractérisé par des contractures articulaires sévères, une malformation de Dandy-Walker associée à une hydrocéphalie et une fente palatine. Aucun nouveau cas n'a été décrit dans la littérature depuis 1985."},"de":{"name":"Aase-Smith-Syndrom Typ 1","synonyms":["Aase-Smith Syndrom Typ I","Hydrozephalus-Gaumenspalte-Gelenkkontrakturen-Syndrom"],"definition":"Das Aase-Smith-Syndrom Typ I ist eine sehr seltene genetische Erkrankung mit folgenden angeborenen Fehlbildungen: Hydrozephalus (durch Dandy-Walker-Anomalie), Gaumenspalte und schwere Gelenkkontrakturen."},"es":{"name":"Síndrome de Aase-Smith tipo 1","synonyms":["Síndrome de Aase-Smith I","Síndrome de hidrocefalia-paladar hendido-contracturas articulares"],"definition":"Es un trastorno de origen genético muy poco frecuente caracterizado por las siguientes malformaciones congénitas: hidrocefalia (debido a la anomalía de Dandy-Walker), paladar hendido y contracturas articulares graves."},"it":{"name":"Sindrome di Aase-Smith tipo 1","synonyms":["Sindrome idrocefalo-palatoschisi-contratture articolari"]},"nl":{"name":"Syndroom van Aase-Smith type 1","synonyms":["Aase-Smith I-syndroom","Hydrocefalie - gespleten gehemelte - gewrichtscontracturen-syndroom"],"definition":"Een zeer zeldzame, genetische aandoening, gekenmerkt door de volgende congenitale malformaties: hydrocefalie (als gevolg van Dandy-Walker anomalie), gespleten gehemelte, en ernstige gewrichtscontracturen."},"pt":{"name":"Síndrome Aase-Smith tipo 1","synonyms":["Síndrome de hidrocefalia-fenda do palato-artrogripose","Síndrome Aase-Smith I"]},"pl":{"name":"Zespół Aase'a i Smitha typu 1","synonyms":["Wodogłowie - rozszczep podniebienia - przykurcze stawów","Zespół Aase'a i Smitha I"]},"cs":{"name":"Aaseho-Smithův syndrom","synonyms":["Aaseho-Smithův syndrom I","Syndrom zahrnující hydrocefalus, rozštěp patra a kontraktury kloubů","Aase-Smithův syndrom","Aase-Smithův syndrom I"]},"uk":{"name":"Синдром Аазе-Сміта","synonyms":["Синдром Аазе-Сміта I","Синдром гідроцефалії-розщілини піднебіння-суглобових контрактур"],"definition":"A very rare genetic disorder characterised by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures."},"zh":{"name":"Aase-Smith综合征","synonyms":["脑积水-腭裂-关节挛缩综合征"]},"tr":{"name":"Aase-Smith sendromu","synonyms":["Aase-Smith I sendromu","Hidrosefali-yarık damak-eklem kontraktür sendromu"]}},"xrefs":[{"source":"OMIM","code":"147800","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0007839","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535332","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0220686","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5642","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10063429","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":330206,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[156]},{"orpha":269570,"name":"Genetic syndrome with a Dandy-Walker malformation as a major feature","classifications":[156]},{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]},{"orpha":139039,"name":"Orofacial clefting syndrome","classifications":[147,156,200,209]},{"orpha":269546,"name":"Syndrome with a Dandy-Walker malformation as a major feature","classifications":[147,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000377","label":"Abnormal pinna morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003272","label":"Abnormality of the hip bone","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001305","label":"Dandy-Walker malformation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002828","label":"Multiple joint contractures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000211","label":"Trismus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006501","label":"Aplasia/Hypoplasia of the radius","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002664","label":"Neoplasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001238","label":"Slender finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null}]}}