{"orpha":1768,"name":"Familial caudal dysgenesis","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Rudd-Klimek syndrome"],"definition":"A rare, genetic, developmental defect during embryogenesis disorder characterized by varying degrees of caudal dysgenesis, ranging from a single umbilical artery or imperforate anus to full sirenomelia, in several members of the same family. Phenotype includes lumbosacral agenesis, anal atresia or ectopia, genitourinary abnormalities, components of VATER or VACTERL association, and facial dysmorphism (flat facies, abnormal ears, bilateral epicanthic folds, depressed nasal bridge, micrognathia). Additional features reported include cardiovascular (e.g. endocardial cushion defect, hypoplasia of pulmonary artery) and skeletal (kyphosis, hemipelvis) anomalies.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1768/","orphanet_url":"https://www.orpha.net/en/disease/detail/1768","names":{"fr":{"name":"Dysgénésie caudale familiale","synonyms":["Syndrome de Rudd-Klimek"],"definition":"Anomalie rare du développement embryonnaire, d'origine génétique, caractérisée par une dysgénésie caudale de degré variable, allant d'une artère ombilicale unique ou d'une imperforation anale à une sirénomélie complète, rapportée chez plusieurs membres d'une même famille. Le phénotype inclut une agénésie lombo-sacrée, une atrésie ou une ectopie de l'anus, des anomalies génito-urinaires, des composantes de l'association VACTERL/VATER et une dysmorphie faciale (visage plat, malformations des oreilles, épicanthus bilatéral, pont nasal déprimé, micrognatie). Des anomalies cardiovasculaires (canal atrioventriculaire, hypoplasie de l'artère pulmonaire) et squelettiques (cyphose, hémipelvis) ont également été rapportées."},"de":{"name":"Dysgenesie, familiäre kaudale","synonyms":["Rudd-Klimek-Syndrom"],"definition":"Eine genetisch bedingte Störung der Embryonalentwicklung, die durch unterschiedliche Grade der kaudalen Dysgenesie gekennzeichnet ist und von einer einzelnen Nabelarterie oder Analatresie bis zur vollständigen Sirenomelie bei mehreren Mitgliedern derselben Familie reichen kann. Der Phänotyp umfasst eine lumbosakrale Agenesie, eine anale Atresie oder Ektopie, Anomalien des Urogenitaltraktes, Komponenten der VATER- oder VACTERL-Assoziation und Gesichtsdysmorphien (flaches Gesicht, abnorme Ohren, beidseitige Epikanthusfalten, abgesenkter Nasenrücken, Mikrognathie). Auch kardiovaskuläre Anomalien (z.B. Endokarddefekt, Hypoplasie der Pulmonalarterie) und Skelettanomalien (Kyphose, Hemiplegie) wurden berichtet."},"es":{"name":"Disgenesia caudal familiar","synonyms":["Síndrome de Rudd-Klimek"],"definition":"Es un trastorno genético poco frecuente del desarrollo durante la embriogénesis, caracterizado por diversos grados de disgenesia caudal, que van desde una arteria umbilical única o un ano imperforado hasta una sirenomelia completa, en varios miembros de la misma familia. El fenotipo incluye agenesia lumbosacra, atresia anal o ectopia, anomalías genitourinarias, componentes de la asociación VATER o VACTERL, y dismorfia facial (facies plana, orejas anómalas, pliegues epicánticos bilaterales, puente nasal deprimido, micrognatia). Otros rasgos descritos incluyen anomalías cardiovasculares (como defectos de los cojínes endocárdicos, hipoplasia de la arteria pulmonar) y esqueléticas (cifosis, hemipelvis)."},"it":{"name":"Disgenesia caudale familiare","synonyms":["Sindrome di Rudd-Klimek"],"definition":"La disgenesia caudale familiare è un difetto genetico raro dello sviluppo dell'embrione, caratterizzato da gradi variabili di disgenesia caudale, che va dall'arteria ombelicale unica o all'ano imperforato alla sirenomelia completa, in più membri della stessa famiglia. Il quadro clinico comprende l'agenesia lombosacrale, l'atresia o l'ectopia anale, le anomalie dell'apparato genito-urinario, elementi dell'associazione VATER o VACTERL e i dismorfismi facciali (viso piatto, anomalie dell'orecchio, epicanto bilaterale, sella nasale infossata, micrognatia). Possono essere presenti anche anomalie cardiovascolari (difetti dei cuscinetti endocardici, ipoplasia dell'arteria polmonare) e scheletrici (cifosi, emipelvi)."},"nl":{"name":"Familiale caudale dysgenesie","synonyms":["Syndroom van Rudd-Klimek"],"definition":"Een zeldzaam genetisch ontwikkelingsdefect tijdens embryogenese, gekenmerkt door diverse gradaties van caudale dysgenesie, gaande van één enkele arteria umbilicalis (navelslagader) of anusatresie tot volledige sirenomelie, bij meerdere leden van eenzelfde familie. Het fenotype omvat lumbosacrale agenesie, atresie of ectopie van de anus, genito-urinaire afwijkingen, componenten van VATER- of VACTERL-associatie, en faciale dysmorfie (plat gezicht, abnormale oren, bilaterale epicanthusplooien (amandelogen), ingedrukte neusbrug, micrognathie). Bijkomende kenmerken die werden gerapporteerd, zijn onder meer cardiovasculaire (zoals defect van endocardiaal kussen, hypoplasie van longslagader) en skeletale (kyfose, hemipelvis) anomalieën."},"pt":{"name":"Disgenesia caudal familiar","synonyms":["Síndrome Rudd-Klimek"],"definition":"Anomalia genética rara no desenvolvimento das doenças da embriogénese, caracterizado por diferentes graus de disgenesia caudal, variando de uma única artéria umbilical ou ânus imperfurado a sirenomelia completa, em vários membros da mesma família. O fenótipo inclui agenesia lombossacral, atresia ou ectopia anal, anomalias geniturinárias, componentes da associação VATER ou VACTERL e dismorfismo facial (fácies plana, orelhas anormais, pregas epicânticas bilaterais, ponte nasal deprimida, micrognatia). Características adicionais incluem anomalias cardiovasculares (por exemplo, defeito do coxim endocárdico, hipoplasia da artéria pulmonar) e esqueléticas (cifose, hemipelvis)."},"pl":{"name":"Rodzinna dysgeneza kaudalna","synonyms":["Zespół Rudda i Klimeka"],"definition":"Rzadka, genetyczna wada rozwojowa powstała w okresie embriogenezy, która charakteryzuje różnego stopnia dysgenezją kaudalną, dotyczącą pojedynczej tętnicy pępowinowej lub nieperforowanego odbytu do pełnej sirenomelii, u kilku członków tej samej rodziny. Fenotyp obejmuje agenezję odcinka lędźwiowo-krzyżowego, atrezję lub ektopię odbytu, wady układu moczowo-płciowego, elementy asocjacji VATER lub VACTERL oraz dysmorfię twarzy (płaska twarz, nieprawidłowe uszy, obustronne zmarszczki nakątne, obniżony grzbiet nosa, mikrognacja). Dodatkowo opisywano wady sercowo-naczyniowe (np. ubytek poduszki wsierdzia, hipoplazja tętnicy płucnej) oraz szkieletu (kifoza, wady dotyczące połowy miednicy).inf brsup inf brsup"},"cs":{"name":"Familiární kaudální dysgeneze","synonyms":["Ruddův-Klimekův syndrom","Rudd-Klimekův syndrom"]},"uk":{"name":"Сімейна каудальна дисгенезія","synonyms":["Синдром Радда-Клімека"],"definition":"A rare, genetic, developmental defect during embryogenesis disorder characterized by varying degrees of caudal dysgenesis, ranging from a single umbilical artery or imperforate anus to full sirenomelia, in several members of the same family. Phenotype includes lumbosacral agenesis, anal atresia or ectopia, genitourinary abnormalities, components of VATER or VACTERL association, and facial dysmorphism (flat facies, abnormal ears, bilateral epicanthic folds, depressed nasal bridge, micrognathia). Additional features reported include cardiovascular (e.g. endocardial cushion defect, hypoplasia of pulmonary artery) and skeletal (kyphosis, hemipelvis) anomalies."},"zh":{"name":"家族性尾骨发育不良","synonyms":["Rudd-Klimek 综合征"]},"tr":{"name":"Ailesel kaudal disgenezi","synonyms":["Rudd-Klimek sendromu"]}},"xrefs":[{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010831","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535879","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931053","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"215","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":1850,"name":"Renal dysplasia-megalocystis-sirenomelia syndrome","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":444941,"name":"Caudal regression-sirenomelia spectrum","classifications":[147,156,182,185,233]},{"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]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_2225526[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"2225526[PMID]"}],"phenotypes":null}