{"orpha":2155,"name":"Hirschsprung disease-deafness-polydactyly syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Hirschsprung disease-hearing loss-polydactyly syndrome","Santos-Mateus-Leal syndrome"],"definition":"Hirschsprung disease-deafness-polydactyly syndrome is an extremely rare malformative association, described in only two siblings to date, characterized by Hirschsprung disease (defined by the presence of an aganglionic segment of variable extent in the terminal part of the colon that leads to symptoms of intestinal obstruction, including constipation and abdominal distension), polydactyly of hands and/or feet, unilateral renal agenesis, hypertelorism and congenital deafness. There have been no further descriptions in the literature since 1988.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2155/","orphanet_url":"https://www.orpha.net/en/disease/detail/2155","names":{"fr":{"name":"Syndrome de maladie de Hirschsprung-polydactylie-surdité","synonyms":["Syndrome de Santos-Mateus-Leal"],"definition":"Association malformative extrêmement rare, décrite à ce jour dans seulement deux fratries, caractérisée par la maladie de Hirschsprung (définie par la présence d'un segment aganglionnaire de longueur variable dans la partie terminale du côlon, à l'origine des symptômes d'obstruction intestinale, y compris la constipation et la distension abdominale), une polydactylie des mains et/ou des pieds, une agénésie rénale unilatérale, un hypertélorisme et une surdité congénitale. Aucun nouveau cas n'a été décrit dans la littérature depuis 1988."},"de":{"name":"Hirschsprung-Krankheit - Polydaktylie - Innenohrtaubheit","synonyms":["Santos-Mateus-Leal-Syndrom"]},"es":{"name":"Síndrome de enfermedad de Hirschsprung-polidactilia-sordera","synonyms":["Síndrome de Santos-Mateus-Leal","Síndrome de enfermedad de Hirschsprung-polidactilia-hipoacusia"],"definition":"Es una asociación malformativa muy poco frecuente descrita hasta la fecha en sólo dos hermanos y caracterizada por la enfermedad de Hirschsprung (definida por la presencia de un segmento agangliónico de extensión variable en la parte terminal del colon, que conduce a síntomas de obstrucción intestinal, tales como estreñimiento y distensión abdominal), polidactilia en manos y/o pies, agenesia renal unilateral, hipertelorismo y sordera congénita. Desde 1988 no se han descrito nuevos casos en la literatura."},"it":{"name":"Malattia di Hirschsprung - sordità - polidattilia","synonyms":["Malattia di Santos-Mateus-Leal"],"definition":"La malattia di Hirschsprung associata a sordità e polidattilia è una malattia molto rara da malformazioni multiple, descritta solo in due gemelli. È caratterizzata dalla malattia di Hirschsprung (presenza di un segmento aganglionare di lunghezza variabile localizzato nella porzione terminale del colon, che causa i sintomi dell'occlusione intestinale, come la costipazione e la distensione addominale), associata a polidattilia delle mani e/o dei piedi, agenesia renale monolaterale, ipertelorismo e sordità congenita. Non sono stati descritti nuovi casi dopo il 1988."},"nl":{"name":"Ziekte van Hirschsprung - doofheid - polydactylie-syndroom","synonyms":["Syndroom van Santos-Mateus-Leal","Ziekte van Hirschsprung - gehoorverlies - polydactylie-syndroom"],"definition":"Ziekte van Hirschsprung - doofheid - polydactylie-syndroom is een uiterst zeldzame malformatieve associatie die tot op heden in slechts twee broers/zussen werd beschreven, en die gekarakteriseerd wordt door ziekte van Hirschsprung (gedefinieerd door de aanwezigheid van een segment zonder ganglia en met variabele lengte in het terminale deel van het colon dat leidt tot symptomen van intestinale obstructie, waaronder constipatie en abdominale distensie), polydactylie van handen en/of voeten, unilaterale nieragenesie, hypertelorisme en congenitale doofheid. Sinds 1988 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de doença Hirschsprung-surdez-polidactilia","synonyms":["Síndrome Santos-Mateus-Leal"]},"pl":{"name":"Choroba Hirschsprung - głuchota - polidaktylia","synonyms":["Zespół Santosa, Mateusa i Leala"]},"cs":{"name":"Syndrom zahrnující Hirschsprungovu chorobu, hluchotu a polydaktylii","synonyms":["Santosův-Mateusův-Lealův syndrom","Santos-Mateus-Lealův syndrom"]},"uk":{"name":"Хвороба Гіршпрунга - синдром глухоти-полідактилії","synonyms":["Хвороба Гіршпрунга з втратою слуху і полідактилією","Синдром Сантоса-Матеуса-Ліля"],"definition":"Hirschsprung disease-deafness-polydactyly syndrome is an extremely rare malformative association, described in only two siblings to date, characterized by Hirschsprung disease (defined by the presence of an aganglionic segment of variable extent in the terminal part of the colon that leads to symptoms of intestinal obstruction, including constipation and abdominal distension), polydactyly of hands and/or feet, unilateral renal agenesis, hypertelorism and congenital deafness. There have been no further descriptions in the literature since 1988."},"zh":{"name":"先天性巨结肠- 聋-多指（趾）畸形综合征","synonyms":["多毛症-听力损失-多指（趾）畸形综合征"]},"tr":{"name":"Hirschsprung hastalığı-sağırlık-polidaktili sendromu","synonyms":["Santos-Mateus-Leal sendromu","Hirschsprung hastalığı-işitme kaybı-polidaktili sendromu"]}},"xrefs":[{"source":"OMIM","code":"235740","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q43.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2H.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"173144974"},{"source":"MONDO","code":"0009342","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537235","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931452","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"157","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":104009,"name":"Rare disease involving intestinal motility","classifications":[152,156,233]},{"orpha":557866,"name":"Rare disorder with Hirschsprung disease as a major feature","classifications":[147,156,182,233]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"3351909[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_3351909[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-11-15","source":null,"terms":[{"hpo":"HP:0002251","label":"Aganglionic megacolon","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001829","label":"Foot polydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001162","label":"Postaxial hand polydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000104","label":"Renal agenesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Frequent (79-30%)","criteria":null}]}}