{"orpha":3412,"name":"VACTERL with hydrocephalus","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Sujansky-Leonard syndrome"],"definition":"A rare multiple congenital anomalies characterized by the association of Vertebral anomalies, Anal atresia, Congenital cardiac disease, Tracheoesophageal fistula, Renal anomalies, and Limb defects (acronym VACTERL) with hydrocephalus. Association with hydrocephalus is relatively rare, may be distinct from VACTERL association in general, and may follow an autosomal recessive pattern of inheritance in some individuals.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3412/","orphanet_url":"https://www.orpha.net/en/disease/detail/3412","names":{"fr":{"name":"Syndrome de VACTERL-hydrocéphalie","synonyms":["Syndrome de Sujansky-Leonard"],"definition":"Anomalies congénitales multiples rares caractérisées par l'association d'anomalies vertébrales, d'atrésie anale, de cardiopathie congénitale, de fistule trachéo-oesophagienne, de troubles rénaux et de malformations des membres (acronyme VACTERL pour Vertebral anomalies, Anal atresia, Congenital cardiac disease, Tracheoesophageal fistula, Renal anomalies, and Limb defects) avec une hydrocéphalie. L'association avec l'hydrocéphalie est relativement rare et peut être distincte de VACTERL en général, son mode de transmission étant autosomique récessif chez certains individus."},"de":{"name":"VACTERL-Assoziation mit Hydrozephalus","synonyms":["Sujansky-Leonard-Syndrom"],"definition":"Eine seltene multiple kongenitale Anomalie, die gekennzeichnet ist durch <b>v</b>ertebrale Anomalien, <b>A</b>nalatresie, angeborene Herzfehler (<b>c</b>ardiac), <b>T</b>racheo-Ösophagel-Fistel, <b>r</b>enale Anomalien und Gliedmaßen-Fehlbildungen (<b>l</b>imb) (Akronym VACTERL). Das gemeinsame Auftreten von VACTERL und Hydrozephalus wurde nur selten beschrieben und wird vermutlich autosomal-rezessiv vererbt. Es handelt sich immer um einen sehr schwerwiegenden oder sogar letalen Entwicklungsdefekt, der sich grundlegend von der VATER-Assoziation unterscheidet."},"es":{"name":"VACTERL con hidrocefalia","synonyms":["Síndrome de Sujansky-Leonard"],"definition":"Es una anomalía congénita múltiple poco frecuente caracterizada por la asociación de anomalías vertebrales, atresia anal, cardiopatía congénita, fístula traqueoesofágica, anomalías renales y defectos de las extremidades (acrónimo VACTERL) con hidrocefalia. La asociación con hidrocefalia es relativamente rara, puede ser distinta de la asociación VACTERL en general y puede seguir un patrón de herencia autosómico recesivo en algunos pacientes."},"it":{"name":"VACTERL con idrocefalo","synonyms":["Sindrome di Sujansky-Leonard"]},"nl":{"name":"VACTERL met hydrocefalie","synonyms":["Syndroom van Sujansky-Leonard"],"definition":"Een zeldzame aandoening met multipele congenitale anomalieën, gekenmerkt door de associatie van vertebrale anomalieën, anusatresie, congenitale hartziekte, tracheo-oesofageale fistel, renale anomalieën, en ledemaatdefecten (acroniem VACTERL) met hydrocefalie. Associatie met hydrocefalie is relatief zeldzaam, kan verschillend zijn van algemene VACTERL-associatie, en kan bij sommige individuen een autosomaal recessief overervingspatroon volgen."},"pt":{"name":"VACTERL com hidrocefalia","synonyms":["Síndrome Sujansky-Leonard"],"definition":"Anomalia congénita múltipla rara caracterizada pela associação de anomalias vertebrais, atrésia anal, doença cardíaca congénita, fístula traqueoesofágica, anomalias renais e defeitos dos membros (acrónimo VACTERL) com hidrocefalia. A associação com hidrocefalia é relativamente rara, pode ser distinta da associação VACTERL no geral e pode seguir um padrão de hereditariedade autossómico recessivo em alguns indivíduos."},"pl":{"name":"Asocjacja VACTERL z wodogłowiem","synonyms":["Zespół Sujansky'ego i Leonarda"],"definition":"Rzadkie, mnogie wady wrodzone obejmujące anomalie kręgów, atrezję odbytu, wrodzoną wadę serca, przetoki tchawiczo-przełykowe, wady nerek, wady kończyn (skrót VACTERL) oraz wodogłowie. Powiązanie z wodogłowiem jest stosunkowo rzadkie, może generalnie różnić się od asocjacji VACTERL, a u niektórych osób może dziedziczyć się w sposób autosomalny recesywny."},"cs":{"name":"VACTERL s hydrocefalem","synonyms":["Sujanskeho-Leonardův syndrom","Sujansky-Leonardův syndrom"]},"uk":{"name":"VACTERL з гідроцефалією","synonyms":["Синдром Суджанського-Леонарда"],"definition":"A rare multiple congenital anomalies characterized by the association of Vertebral anomalies, Anal atresia, Congenital cardiac disease, Tracheoesophageal fistula, Renal anomalies, and Limb defects (acronym VACTERL) with hydrocephalus. Association with hydrocephalus is relatively rare, may be distinct from VACTERL association in general, and may follow an autosomal recessive pattern of inheritance in some individuals."},"zh":{"name":"VACTERL 伴脑积水","synonyms":["Sujansky-Leonard综合征"]},"tr":{"name":"Hidrosefalili VACTERL","synonyms":["Sujansky-Leonard sendromu"]}},"xrefs":[{"source":"OMIM","code":"276950","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"314390","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1646268729"},{"source":"MONDO","code":"0010172","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4305002","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"272","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":730699,"name":"Genetic syndromic rhombencephalosynapsis","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":117573,"name":"Syndromic anorectal malformation","classifications":[147,156,182,233]},{"orpha":729538,"name":"Syndromic rhombencephalosynapsis","classifications":[147,181]}],"children":[],"genes":[{"symbol":"FANCB","name":"FA complementation group B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"21910217[PMID]","hgnc":"3583","ensembl":"ENSG00000181544","omim":"300515","loci":["Xp22.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive","X-linked recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":10.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-09-14","source":null,"terms":[{"hpo":"HP:0000587","label":"Abnormal optic nerve morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002023","label":"Anal atresia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002410","label":"Aqueductal stenosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002032","label":"Esophageal atresia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000482","label":"Microcornea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000104","label":"Renal agenesis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008678","label":"Renal hypoplasia/aplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002575","label":"Tracheoesophageal fistula","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003312","label":"Abnormal form of the vertebral bodies","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002937","label":"Hemivertebrae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002984","label":"Hypoplasia of the radius","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011027","label":"Abnormality of the fallopian tube","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000356","label":"Abnormality of the outer ear","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010305","label":"Absence of the sacrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000528","label":"Anophthalmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009892","label":"Anotia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002139","label":"Arrhinencephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100541","label":"Femoral hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002827","label":"Hip dislocation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011267","label":"Microtia, third degree","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002089","label":"Pulmonary hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000278","label":"Retrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001195","label":"Single umbilical artery","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002414","label":"Spina bifida","frequency":"Occasional (29-5%)","criteria":null}]}}