{"orpha":140,"name":"Campomelic dysplasia","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Campomelic dwarfism"],"definition":"A rare skeletal dysplasia characterized by peculiar facial anomalies, Pierre Robin sequence, cleft palate, shortening and bowing of long bones. Sexual ambiguity or female external genitalia is possible in individuals with a male karyotype.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-140/","orphanet_url":"https://www.orpha.net/en/disease/detail/140","names":{"fr":{"name":"Dysplasie campomélique","synonyms":["Nanisme campomélique"],"definition":"Une dysplasie osseuse rare caractérisée par une dysmorphie faciale particulière, une séquence de Pierre Robin, une fente palatine, un raccourcissement et une courbure des os longs. Chez des individus avec un caryotype masculin, on peut observer une ambiguïté sexuelle ou des organes génitaux externes féminins."},"de":{"name":"Dysplasie, kampomele","definition":"Eine seltene Skelettdysplasie, die durch spezifische Gesichtsanomalien, Pierre-Robin-Sequenz, Gaumenspalte und Verkürzung und Verbiegung der langen Röhrenknochen gekennzeichnet ist. Sexuelle Uneindeutigkeit oder weibliche äußere Genitalien sind bei Personen mit männlichem Karyotyp möglich."},"es":{"name":"Displasia campomélica","synonyms":["Enanismo campomélico"],"definition":"Es una displasia esquelética poco frecuente caracterizada por la presencia de anomalías faciales características, secuencia de Pierre Robin, paladar hendido y acortamiento e incurvación de los huesos largos. Los pacientes con un cariotipo masculino pueden presentar ambigüedad sexual o la presencia de genitales externos femeninos."},"it":{"name":"Displasia campomelica","synonyms":["Nanismo campomelico"],"definition":"Si tratta di una displasia scheletrica rara, caratterizzata da dismorfismi facciali tipici, sequenza di Pierre Robin, palatoschisi, e accorciamento e incurvamento delle ossa lunghe. I soggetti con cariotipo maschile possono presentare ambiguità sessuale o genitali esterni femminili."},"nl":{"name":"Campomele dysplasie","synonyms":["Campomele dwerggroei"],"definition":"Een zeldzame skeletdysplasie, gekenmerkt door ongewone faciale anomalieën, Pierre Robin sequentie, gespleten gehemelte, en abnormaal korte lengte en kromstand van pijpbeenderen. Seksuele ambiguïteit of vrouwelijke uitwendige geslachtsorganen zijn mogelijk bij individuen met een mannelijk karyotype."},"pt":{"name":"Displasia campomélica","synonyms":["Nanismo campomélico"]},"pl":{"name":"Dysplazja kampomeliczna","synonyms":["Karłowatość kampomeliczna"]},"cs":{"name":"Kampomelická dysplázie","synonyms":["Kampomelické trpaslictví"]},"uk":{"name":"Кампомелічна дисплазія","synonyms":["Кампомелійна карликовість"],"definition":"A rare skeletal dysplasia characterized by peculiar facial anomalies, Pierre Robin sequence, cleft palate, shortening and bowing of long bones. Sexual ambiguity or female external genitalia is possible in individuals with a male karyotype."},"zh":{"name":"躯干发育异常","synonyms":["弯肢性侏儒"]},"tr":{"name":"Kampomelik displazi","synonyms":["Kampomelik cücelik"]}},"xrefs":[{"source":"OMIM","code":"114290","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"211990","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"602196","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2A.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"913761638"},{"source":"MONDO","code":"0007251","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D055036","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1861922","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10027","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93439,"name":"Campomelic dysplasia and related disorders","classifications":[147,156,199]},{"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":98087,"name":"Syndrome with 46,XY difference of sex development","classifications":[147,156,185,193]},{"orpha":325638,"name":"Syndrome with difference of sex development of gynecological interest","classifications":[156,205]}],"children":[],"genes":[{"symbol":"SOX9","name":"SRY-box transcription factor 9","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"22051515[PMID]_20301724[PMID]","hgnc":"11204","ensembl":"ENSG00000125398","omim":"608160","loci":["17q24.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.0003,"area":"Worldwide","status":"Validated","source":"[https://www.ncbi.nlm.nih.gov/books/NBK1760/]_ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.875,"area":"Worldwide","status":null,"source":"[https://www.ncbi.nlm.nih.gov/books/NBK1760/]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000878","label":"11 pairs of ribs","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006487","label":"Bowing of the long bones","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003038","label":"Fibular hypoplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012368","label":"Flat face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002827","label":"Hip dislocation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008821","label":"Hypoplastic inferior ilia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001601","label":"Laryngomalacia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000774","label":"Narrow chest","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008477","label":"Poorly ossified cervical vertebrae","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002757","label":"Recurrent fractures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003026","label":"Short long bone","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006584","label":"Small abnormally formed scapulae","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002982","label":"Tibial bowing","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002786","label":"Tracheobronchomalacia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002779","label":"Tracheomalacia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000062","label":"Ambiguous genitalia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002980","label":"Femoral bowing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000037","label":"Male pseudohermaphroditism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010781","label":"Skin dimple","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004408","label":"Abnormality of the sense of smell","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007036","label":"Hypoplasia of olfactory tract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Occasional (29-5%)","criteria":null}]}}