{"orpha":1325,"name":"Camptodactyly-taurinuria syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Familial streblodactyly with amino-aciduria"],"definition":"Camptodactyly-taurinuria syndrome is a congenital malformation syndrome characterized by the association of a permanent camptodactyly of the fingers with the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1325/","orphanet_url":"https://www.orpha.net/en/disease/detail/1325","names":{"fr":{"name":"Syndrome de camptodactylie-taurinurie","synonyms":["Camptodactylie familiale avec une aminoacidurie"],"definition":"Le syndrome de Bonnemann-Meinecke-Reich est un syndrome d'anomalies congénitales multiples caractérisé par une encéphalopathie survenant principalement au cours de la première année de vie, et se présentant par un retard psychomoteur. Les manifestations additionnelles de la maladie incluent une dysmorphie modérée, une craniosynostose, un nanisme (dû à un déficit en hormone de croissance), un déficit intellectuel, une spasticité, une ataxie, une dégénérescence rétinienne, ainsi qu'une hypoplasie surrénale et utérine. La maladie a été décrite uniquement dans deux familles, chaque famille possédant deux frères et soeurs affectés. Un mode de transmission autosomique récessive a été suggéré. Il n'y a pas eu de description ultérieure dans la littérature depuis 1991."},"de":{"name":"Kamptodaktylie-Taurinurie-Syndrom","synonyms":["Familiäre Streblodaktylie mit Aminoazidurie"],"definition":"Das Kamptodaktylie-Taurinurie-Syndrom ist ein angeborenes Fehlbildungssyndrom, das durch die Assoziation einer permanenten Kamptodaktylie der Finger (s. diesenTerm) mit der vermehrter Ausscheidung von Taurin im Urin gekennzeichnet ist. Die Kamptodaktylie betrifft hauptsächlich den kleinen Finger, wobei jeder Finger beteiligt sein kann. Die Krankheit wurde bei 17 betroffenen Patienten aus 4 unabhängigen Familien beschrieben. Es wird eine autosomal-dominante Vererbung vermutet. Seit 1966 gibt es in der Literatur keine weiteren Beschreibungen."},"es":{"name":"Síndrome de camptodactilia-taurinúria","synonyms":["Estreblodactilia familiar con amino-aciduria"],"definition":"El síndrome de camptodactilia-taurinúria es un síndrome malformativo congénito caracterizado por la asociación de campodactilia permanente de los dedos (consulte este término) con la excreción incrementada de taurina por la orina. La campodactilia afecta principalmente al dedo meñique, aunque cualquier dedo puede estar afectado. La enfermedad se ha descrito en 17 pacientes afectados de 4 familias no relacionadas. Se ha sugerido una herencia autosómica dominante. No se han encontrado más descripciones en la literatura desde 1996."},"it":{"name":"Camptodattilia - taurinuria","synonyms":["Camptodattilia familiare con aminoaciduria"],"definition":"La sindrome camptodattilia-taurinuria è una sindrome malformativa congenita, caratterizzata dall'associazione tra una camptodattilia permanente delle dita delle mani (si vedano questi termini) e la sovrapproduzione di taurina nelle urine. La camptodattilia interessa per lo più il mignolo, ma può essere coinvolto qualsiasi dito della mano. La malattia è stata descritta in 17 pazienti di 4 famiglie non correlate. È stata suggerita una trasmissione autosomica dominante. Non sono stati pubblicati nuovi casi dal 1966."},"nl":{"name":"Camptodactylie - taurinurie-syndroom","synonyms":["Familiale streblodactylie met amino-acidurie"],"definition":"Camptodactylie-taurinurie syndroom is een congenitaal malformatiesyndroom gekenmerkt door de associatie van een permanente camptodactylie van de vingers (zie deze term) en de te hoge uitscheiding van taurine in de urine. Camptodactylie treft vooral de pink, maar elke vinger kan betrokken zijn. De ziekte werd beschreven bij 17 getroffen mensen uit 4 niet-verwante families. Een autosomaal dominante overerving wordt vermoed. Sinds 1966 zijn er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de camptodactilia-taurinúria"},"pl":{"name":"Kamptodaktylia - taurynuria","synonyms":["Rodzinna streblodaktylia z aminoacydurią"]},"cs":{"name":"Syndrom zahrnující kamptodaktylii a taurinurii","synonyms":["Familiární streblodaktylie s amino-acidurií"]},"uk":{"name":"Синдром камптодактилії-тауринурії","synonyms":["Сімейна стребродактилія з аміноацидурією"],"definition":"Camptodactyly-taurinuria syndrome is a congenital malformation syndrome characterized by the association of a permanent camptodactyly of the fingers (see this term) with the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966."},"zh":{"name":"指屈曲-牛磺酸尿综合征","synonyms":["家族性指屈曲畸形-氨基酸尿症"]},"tr":{"name":"Kamptodaktili-taurinüri sendromu","synonyms":["Ailesel streblodaktili aminoasitüri"]}},"xrefs":[{"source":"ICD-10","code":"Q68.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0015272","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537972","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4518792","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1069","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":404577,"name":"Genetic syndrome with limb malformations as a major feature","classifications":[156]},{"orpha":109009,"name":"Syndrome with limb malformations as a major feature","classifications":[147]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":17.0,"area":"Worldwide","status":"Validated","source":"16178082[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_16178082[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0003355","label":"Aminoaciduria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001836","label":"Camptodactyly of toe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003166","label":"Increased urinary taurine","frequency":"Very frequent (99-80%)","criteria":null}]}}