{"orpha":1319,"name":"Camptobrachydactyly","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"Camptobrachydactyly is an extremely rare brachydactyly syndrome, characterized by short broad hands and feet with brachydactyly associated with congenital flexion contractures of the proximal and/or distal interphalangeal joints of the fingers, as well as syndactyly of feet. Polydactyly, septate vagina and urinary incontinence were also occasionally reported. Camptobrachydactyly has been described in 18 members of 1 family, suggesting an autosomal dominant inheritance. There have been no further descriptions in the literature since 1972.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1319/","orphanet_url":"https://www.orpha.net/en/disease/detail/1319","names":{"fr":{"name":"Camptobrachydactylie","definition":"La camptobrachydactylie est un syndrome de brachydactylie extrêmement rare caractérisé par des mains et des pieds courts et larges avec une brachydactylie, associés à des contractures congénitales en flexion des articulations interphalangiennes proximales et/ou distales des doigts, ainsi qu'une syndactylie au niveau des pieds. Une polydactylie, un vagin cloisonné et une incontinence urinaire ont aussi été rapportés dans quelques cas. La camptobrachydactylie a été décrite chez dix-huit membres d'une famille, ce qui suggère un mode de transmission autosomique dominante. Il n'y a pas eu de description ultérieure de la maladie dans la littérature depuis 1972."},"de":{"name":"Kamptobrachydaktylie","definition":"Die Kamptobrachydaktylie ist ein extrem seltenes Brachydaktylie-Syndrom und gekennzeichnet durch kurze und breite Hände und Füße mit Brachydaktylie in Verbindung mit angeborenen Beugekontrakturen der proximalen und/oder distalen Interphalangealgelenke der Finger und mit Syndaktylie der Füße. Bei einigen Betroffenen wurde auch Polydaktylie, Vagina septata, und Harninkontinenz beschrieben. Die Kamptobrachydaktylie wurde in einer Familie bei 18 Mitgliedern beschrieben, was an autosomal-dominante Vererbung denken lässt. Seit 1972 wurden keine weiteren Fälle beschrieben."},"es":{"name":"Camptobraquidactilia","definition":"La camptobraquidactilia es un síndrome de braquidactilia extremadamente raro caracterizado por manos y pies anchos y cortos con braquidactilia, asociado con contracturas congénitas en flexión de las articulaciones interfalángicas proximal y/o distal, así como sindactilia de los pies. También se ha informado ocasionalmente de polidactilia, vagina tabicada e incontinencia urinaria. La camptobraquidactilia ha sido descrita en 18 miembros de 1 familia, lo que sugiere una herencia autosómica dominante. No ha habido posteriores descripciones en la literatura desde 1972."},"it":{"name":"Camptobrachidattilia","definition":"La camptobrachidattilia è una sindrome da brachidattilia estremamente rara, caratterizzata da mani e piedi larghi e corti con brachidattilia, associata a contratture congenite in flessione a livello delle articolazioni interfalangee prossimali e/o distali delle dita delle mani e a sindattilia delle dita dei piedi. Raramente è presente polidattilia, vagina setta e incontinenza urinaria. La camptobrachidattilia è stata descritta in 18 soggetti di una stessa famiglia, suggestiva di una trasmissione autosomica dominante. Gli ultimi casi pubblicati risalgono al 1972."},"nl":{"name":"Camptobrachydactylie","definition":"Camptobrachydactylie is een uiterst zeldzaam brachydactyliesyndroom, gekenmerkt door korte brede handen en voeten met brachydactylie geassocieerd met congenitale flexiecontracturen van de proximale en/of distale interfalangeale gewrichten van de vingers, alsook syndactylie van de voeten. Polydactylie, vaginaal septum en urine-incontinentie werden ook af en toe gemeld. Camptobrachydactylie werd beschreven bij 18 leden van 1 familie, wat een autosomaal dominante overerving suggereert. Sinds 1972 zijn er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Camptobraquidactilia"},"pl":{"name":"Kamptobrachydaktylia"},"cs":{"name":"Kamptobrachydaktylie"},"uk":{"name":"Камптобрахідактилія","definition":"Camptobrachydactyly is an extremely rare brachydactyly syndrome, characterized by short broad hands and feet with brachydactyly associated with congenital flexion contractures of the proximal and/or distal interphalangeal joints of the fingers, as well as syndactyly of feet. Polydactyly, septate vagina and urinary incontinence were also occasionally reported. Camptobrachydactyly has been described in 18 members of 1 family, suggesting an autosomal dominant inheritance. There have been no further descriptions in the literature since 1972."},"zh":{"name":"短指弯曲畸形"},"tr":{"name":"Kamptobrakidaktili"}},"xrefs":[{"source":"OMIM","code":"114150","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q74.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0007249","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537967","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1861963","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1062","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":498451,"name":"Dysostosis with brachydactyly without extraskeletal manifestations","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"5031984[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_5031984[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001153","label":"Septate vagina","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001770","label":"Toe syndactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009465","label":"Ulnar deviation of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001231","label":"Abnormal fingernail morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009601","label":"Aplasia/Hypoplasia of the thumb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001800","label":"Hypoplastic toenails","frequency":"Occasional (29-5%)","criteria":null}]}}