{"orpha":3429,"name":"Verloove Vanhorick-Brubakk syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Cleft lip-limb and heart malformations syndrome"],"definition":"Verloove Vanhorick-Brubakk syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by multiple skeletal malformations (short femora and humeri, bilateral absence of metatarsal and metacarpal bone in hands and feet, bilateral partial syndactyly of fingers and toes or oligopolysyndactyly, deformed lumbosacral spine), congenital heart disease (truncus arteriosus), lung and urogenital malformations (bilateral bilobar lungs, horseshoe kidney, cryptorchidism), and facial malformations (bilateral cleft lip and palate, micrognathia, small, low-set ears without external meatus). It is lethal in the neonatal period. There have been no further descriptions in the literature since 1981.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3429/","orphanet_url":"https://www.orpha.net/en/disease/detail/3429","names":{"fr":{"name":"Syndrome de Verloove-Van Horick-Brubakk","synonyms":["Syndrome de fente-malformations du coeur et des membres"],"definition":"Un syndrome dysmorphique/d'anomalies congénitales multiples caractérisé par de multiples malformations squelettiques (humérus et fémurs courts, absence bilatérale des os métacarpiens et métatarsiens, syndactylie partielle bilatérale des doigts et des orteils ou oligopolysyndactylie, malformation de la charnière lombo-sacrée), une cardiopathie congénitale (tronc artériel commun), des anomalies pulmonaires et urogénitales (poumons bilobés bilatéraux, rein en fer à cheval, cryptorchidie), et des malformations faciales (fente labiale et palatine bilatérale, micrognathie, petites oreilles implantées basses sans méat externe). Le syndrome est létal dans la période néonatale. Il n'y a pas eu de description ultérieure dans la littérature depuis 1981."},"de":{"name":"Verloove-Vanhorick-Brubakk-Syndrom","synonyms":["Gaumenspalte-Extremitäten- und Herz-Fehlbildungssyndrom-Syndrom"],"definition":"Das Verloove-Vanhorick-Brubakk-Syndrom ist ein kongenitales Dysmorphie-Syndrom mit multiple Anomalien und letalem Verlauf im Säuglingsalter. Es ist gekennzeichnet durch multiple Skelettfehlbildungen (kurze Femora und Humeri, beidseitiges Fehlen von Metatarsal- und Metacarpal-Knochen in Händen und Füßen, beidseitige partielle Syndaktylie der Finger und Zehen oder Oligopolysyndaktylie, deformierte lumbosakrale Wirbelsäule), kongenitale Herzerkrankung (Truncus arteriosus), Lungen- und Urogenitalfehlbildungen (bilaterale bilobare Lungen, Hufeisenniere, Kryptorchismus) sowie Gesichtsfehlbildungen (bilaterale Lippen-Kiefer-Gaumenspalte, Mikrognathie, kleine, tief angesetzte Ohren ohne äußeren Gehörgang). Seit 1981 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de Verloove Vanhorick-Brubakk","synonyms":["Síndrome de labio leporino-malformaciones cardíacas y de las extremidades"],"definition":"El síndrome de Verloove Vanhorick-Brubakk es un síndrome dismórfico de anomalías congénitas múltiples, caracterizado por múltiples malformaciones esqueléticas (fémures y húmeros cortos, ausencia bilateral de metatarsianos y metacarpianos, sindactilia parcial bilateral de los dedos de las manos y los pies u oligopolisindactlilia, malformación de la columna lumbosacra), cardiopatías congénitas (Truncus arteriosus) malformaciones pulmonares y urogenitales (pulmones bilobares bilaterales, riñón en herradura, criptorquidia) y malformaciones faciales (labio leporino y paladar hendido bilateral, micrognatia, orejas pequeñas y de baja implantación, sin meato externo). Es letal en el período neonatal. No ha habido más descripciones en la literatura desde 1981."},"it":{"name":"Sindrome di Verloove-Van Horick-Brubakk","synonyms":["Schisi - malformazione del cuore e degli arti"],"definition":"La sindrome di Verloove Vanhorick-Brubakk è una malattia da anomalie/dismorfismi congeniti multipli, caratterizzata da malformazioni scheletriche multiple (accorciamento dei femori e degli omeri, agenesia bilaterale delle ossa del metatarso e del metacarpo delle mani e dei piedi, sindattilia parziale bilaterale delle dita delle mani e dei piedi o oligopolisindattilia, deformazione della colonna lombosacrale), cardiopatia congenita (tronco arterioso), malformazioni polmonari e uro-genitali (polmoni bilobati bilateralmente, reni a ferro di cavallo, criptorchidismo) e malformazioni facciali (labioschisi e palatoschisi bilaterali, micrognazia, orecchie piccole e a basso impianto in assenza del meato esterno). La malattia è letale nel periodo neonatale. Non sono stati descritti nuovi casi dopo il 1981."},"nl":{"name":"Syndroom van Verloove-Vanhorick-Brubakk","synonyms":["Gespleten lip - ledemaat- en hartmalformaties-syndroom"],"definition":"Syndroom van Verloove-Vanhorick-Brubakk is een multipele congenitale anomalieën/dysmorfie-syndroom dat gekarakteriseerd wordt door multipele skeletmalformaties (korte dij- en opperarmbeenderen, bilaterale afwezigheid van metatarsalen en metacarpalen in handen en voeten, bilaterale partiële syndactylie van vingers en tenen of oligopolysyndactylie, misvormde lumbosacrale ruggengraat), congenitale hartziekte (truncus arteriosus), long- en urogenitale malformaties (bilateraal bilobaire longen, hoefijzernier, cryptorchidie), en faciale malformaties (bilateraal gespleten lip en verhemelte, micrognathie, kleine en laagstaande oren zonder uitwendige gehoorgang). Het is letaal tijdens de neonatale periode. Sinds 1981 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome Verloove-Vanhorick-Brubakk","synonyms":["Síndrome de fenda labial-malformações cardíacas e nos membros"]},"pl":{"name":"Zespół Verloove Vanhoricka i Brubakka","synonyms":["Zespół rozszczep - wady kończyn i serca"]},"cs":{"name":"Verloove Vanhorickův-Brubakkův syndrom","synonyms":["Syndrom zahrnující rozštěpy, malformace končetin a srdeční vady","Verloove Vanhorick-Brubakkův syndrom"]},"uk":{"name":"Синдром Верлува Ванхорика-Брубакка","synonyms":["Синдром розщеплення губи - вади розвитку кінцівок і серця"],"definition":"Verloove Vanhorick-Brubakk syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by multiple skeletal malformations (short femora and humeri, bilateral absence of metatarsal and metacarpal bone in hands and feet, bilateral partial syndactyly of fingers and toes or oligopolysyndactyly, deformed lumbosacral spine), congenital heart disease (truncus arteriosus), lung and urogenital malformations (bilateral bilobar lungs, horseshoe kidney, cryptorchidism), and facial malformations (bilateral cleft lip and palate, micrognathia, small, low-set ears without external meatus). It is lethal in the neonatal period. There have been no further descriptions in the literature since 1981."},"zh":{"name":"Verlove-Vanhorick-Brubakk综合征","synonyms":["腭裂-肢体心脏异常综合征"]},"tr":{"name":"Verloove Vanhorick-Brubakk sendromu","synonyms":["Yarık dudak-ekstremite ve kalp malformasyonları sendromu"]}},"xrefs":[{"source":"OMIM","code":"215850","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0008991","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536541","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1859082","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5482","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":330206,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[156]},{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]},{"orpha":139039,"name":"Orofacial clefting syndrome","classifications":[147,156,200,209]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"7324930[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_7324930[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003312","label":"Abnormal form of the vertebral bodies","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005916","label":"Abnormal metacarpal morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002823","label":"Abnormality of femur morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002644","label":"Abnormality of pelvic girdle bone morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000828","label":"Abnormality of the parathyroid gland","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006703","label":"Aplasia/Hypoplasia of the lungs","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000413","label":"Atresia of the external auditory canal","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009826","label":"Limb undergrowth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008551","label":"Microtia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100335","label":"Non-midline cleft of the upper lip","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008368","label":"Tarsal synostosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100542","label":"Abnormal localization of kidney","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Frequent (79-30%)","criteria":null}]}}