{"orpha":1861,"name":"Thoracic dysplasia-hydrocephalus syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"A rare syndromic primary bone dysplasia characterized by short ribs with a narrow chest and thoracic dysplasia, mild rhizomelic shortening of the limbs, communicating hydrocephalus, and developmental delay. There have been no further descriptions in the literature since 1987.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1861/","orphanet_url":"https://www.orpha.net/en/disease/detail/1861","names":{"fr":{"name":"Syndrome de dysplasie thoracique-hydrocéphalie","definition":"Syndrome rare de dysplasie osseuse primaire caractérisé par des côtes courtes, un thorax étroit et une dysplasie thoracique, un léger raccourcissement rhizomélique des membres, une hydrocéphalie communicante et un retard de développement. Aucun cas n'a été décrit dans la littérature depuis 1987."},"de":{"name":"Thoraxdysplasie-Hydrozephalus-Syndrom"},"es":{"name":"Síndrome de displasia torácica-hidrocefalia","definition":"El síndrome de displasia torácica - hidrocefalia es un síndrome de displasia ósea primaria muy poco frecuente que se caracteriza por costillas cortas con tórax estrecho y displasia torácica, leve acortamiento rizomélico de las extremidades, hidrocefalia comunicante y retraso en el desarrollo. No ha habido más casos descritos en la literatura desde 1987."},"it":{"name":"Sindrome da displasia toracica e idrocefalo","definition":"La sindrome che associa la displasia toracica e l'idrocefalo è una displasia scheletrica primitiva molto rara, caratterizzata da costole corte, torace stretto, displasia toracica, lieve accorciamento rizomelico degli arti, idrocefalo comunicante e ritardo dello sviluppo. Non sono stati descritti nuovi casi dopo il 1987."},"nl":{"name":"Thoracale dysplasie - hydrocefalie-syndroom","definition":"Thoracale dysplasie - hydrocefalie-syndroom is een uiterst zeldzame, syndromale primaire botdysplasie die gekarakteriseerd wordt door korte ribben met een smalle borstkas en thoracale dysplasie, milde rhizomele verkorting van de ledematen, communicerende hydrocefalus, en ontwikkelingsachterstand. Sinds 1987 zijn er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de displasia torácica-hidrocefalia"},"pl":{"name":"Zespół dysplazji klatki piersiowej i wodogłowia","definition":"*Zespół dysplazji klatki piersiowej i wodogłowia jest niezwykle rzadką pierwotną dysplazją kostną, która charakteryzuje się krótkimi żebrami z wąską, dysplastyczną klatką piersiową, łagodnym rizomelicznym skróceniem kończyn, wodogłowiem komunikującym i opóźnieniem rozwoju. Od 1987 roku nie ma nowych opisów w literaturze."},"cs":{"name":"Syndrom zahrnující dysplázii hrudníku a hydrocefalus"},"uk":{"name":"Синдром грудної дисплазії-гідроцефалії","definition":"A rare syndromic primary bone dysplasia characterized by short ribs with a narrow chest and thoracic dysplasia, mild rhizomelic shortening of the limbs, communicating hydrocephalus, and developmental delay. There have been no further descriptions in the literature since 1987."},"zh":{"name":"胸廓发育不良-脑积水综合征"},"tr":{"name":"Torasik displazi-hidrosefali sendromu"}},"xrefs":[{"source":"OMIM","code":"273730","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010115","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564774","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1848864","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5180","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":93426,"name":"Ciliopathies with major skeletal involvement","classifications":[147,156,199]},{"orpha":269564,"name":"Genetic syndrome with a central nervous system malformation as a major feature","classifications":[156]},{"orpha":269531,"name":"Other syndrome with a central nervous system malformation as a major feature","classifications":[147,181]},{"orpha":182108,"name":"Thoracic malformation","classifications":[184]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"3295244[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_3295244[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001334","label":"Communicating hydrocephalus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009826","label":"Limb undergrowth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000774","label":"Narrow chest","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000944","label":"Abnormal metaphysis morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000405","label":"Conductive hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000457","label":"Depressed nasal ridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002878","label":"Respiratory failure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null}]}}