{"orpha":85168,"name":"Craniofacial conodysplasia","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"Craniofacial conodysplasia is characterised by craniofacial dysplasia, cone-shaped physes of the hands and feet, and neurological manifestations resembling cerebral palsy. It has been described in one family. The syndrome appeared to be transmitted as a dominant trait.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-85168/","orphanet_url":"https://www.orpha.net/en/disease/detail/85168","names":{"fr":{"name":"Conodysplasie craniofaciale","definition":"La conodysplasie craniofaciale est caractérisée par une dysplasie crânio-faciale, des épiphyses en cônes au niveau des mains et des pieds, et des manifestations neurologiques semblables à une paralysie cérébrale. Elle a été décrite au sein d'une famille. Ce syndrome se transmet vraisemblablement sur le mode dominant."},"de":{"name":"Kraniofaziale Konodysplasie","definition":"Dieses Syndrom ist gekennzeichnet durch kranio-faziale Dysplasie, Zapfenepiphysen an Händen und Füßen und neurologische Veränderungen ähnlich einer Zerebralparese. Es wurde in 1 Familie beschrieben, in der ein dominanter Erbgang vorzuliegen schien."},"es":{"name":"Conodisplasia craneofacial","definition":"Es un trastorno caracterizado por displasia craneofacial, con epífisis en forma de cono en las manos y los pies y manifestaciones neurológicas que se asemejan a la parálisis cerebral. Se ha descrito en una familia. El síndrome parecía transmitirse como un rasgo dominante."},"it":{"name":"Displasia craniofacciale - epifisi a cono"},"nl":{"name":"Craniofaciale conodysplasie","definition":"Craniofaciale conodysplasie wordt gekenmerkt door craniofaciale dysplasie, kegelvormige groeischijven van handen en voeten, en neurologische manifestaties die lijken op hersenverlamming. De aandoening werd bij één familie beschreven. Het syndroom lijkt overgedragen te worden als een dominant kenmerk."},"pt":{"name":"Conodisplasia craniofacial"},"pl":{"name":"Dysplazja stożkowa czaszkowo-twarzowa"},"cs":{"name":"Kraniofaciální konodysplázie"},"uk":{"name":"Черепно-лицьова конодисплазія","definition":"Craniofacial conodysplasia is characterised by craniofacial dysplasia, cone-shaped physes of the hands and feet, and neurological manifestations resembling cerebral palsy. It has been described in one family. The syndrome appeared to be transmitted as a dominant trait."},"zh":{"name":"颅面骨锥状发育不良"},"tr":{"name":"Kraniyofasiyal konodisplazi"}},"xrefs":[{"source":"ICD-10","code":"Q87.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.8Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0019406","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4303862","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93436,"name":"Acromelic dysplasia","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["No data available"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"7593576[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_7593576[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"7593576[PMID]","terms":[{"hpo":"HP:0000271","label":"Abnormality of the face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010230","label":"Cone-shaped epiphyses of the phalanges of the hand","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004439","label":"Craniofacial dysostosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002176","label":"Spinal cord compression","frequency":"Very frequent (99-80%)","criteria":null}]}}