{"orpha":2153,"name":"Hirschsprung disease-nail hypoplasia-dysmorphism syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Al Gazali-Donnai-Muller syndrome"],"definition":"Hirschsprung disease-nail hypoplasia-dysmorphism syndrome is a fatal malformative disorder that is characterized by Hirschsprung disease, hypoplastic nails, distal limb hypoplasia and minor craniofacial dysmorphic features (flat facies, upward slanting palpebral fissures, narrow philtrum, narrow, high arched palate, micrognathia, low set ears with abnormal helices). Hydronephrosis has also been reported. There have been no further descriptions in the literature since 1988.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2153/","orphanet_url":"https://www.orpha.net/en/disease/detail/2153","names":{"fr":{"name":"Syndrome de maladie de Hirschsprung-hypoplasie des ongles-dysmorphie","synonyms":["Syndrome d'Al Gazali-Donnai-Muller"],"definition":"Un trouble malformatif fatal caractérisé par la maladie de Hirschsprung associée à une hypoplasie unguéale, une hypoplasie distale des membres et une légère dysmorphie faciale (visage plat, fentes palpébrales obliques en haut et en dehors, philtrum étroit, palais ogival étroit, micrognathie, oreilles implantées basses avec un hélix anormal). Une hydronéphrose a aussi été rapportée. Il n'y a pas eu de nouvelle description dans la littérature depuis 1988."},"de":{"name":"Hirschsprung-Krankheit-Nagelhypoplasie-Dysmorphie-Syndrom","synonyms":["Al Gazali-Donnai-Mueller-Syndrom"],"definition":"Das Hirschsprung-Krankheit-Nagelhypoplasie-Dysmorphie-Syndrom ist eine tödlich verlaufende Fehlbildungsstörung, die durch Morbus Hirschsprung, hypoplastische Nägel, Hypoplasie der distalen Gliedmaßen und geringfügige kraniofaziale Dysmorphien (flaches Gesicht, nach oben schräg verlaufende Lidspalten, schmales Philtrum, schmaler, hochgewölbter Gaumen, Mikrognathie, tief angesetzte Ohren mit abnormalen Helix) gekennzeichnet ist. Es wurde auch über Hydronephrose berichtet. Seit 1988 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de enfermedad de Hirschsprung-hipoplasia ungueal-dismorfia","synonyms":["Síndrome de Al Gazali-Donnai-Muller"],"definition":"El síndrome de enfermedad de Hirschsprung-hipoplasia ungueal-dismorfia, es un trastorno malformativo letal caracterizado por la enfermedad de Hirschsprung, hipoplasia ungueal, hipoplasia de las extremidades distales y rasgos dismórficos craneofaciales menores (facies plana, fisuras palpebrales inclinadas hacia arriba, surco nasolabial estrecho, paladar estrecho y arqueado, micrognatia y orejas de implantación baja con hélices anómalas). También se ha notificado hidronefrosis. No ha habido más descripciones en la literatura desde 1988."},"it":{"name":"Malattia di Hirschsprung - ipoplasia ungueale - dismorfismi","definition":"La malattia di Hirschsprung associata a ipoplasia ungueale e dismorfismi è una malattia malformativa letale, caratterizzata dall'associazione tra malattia di Hirschsprung, ipoplasia delle unghie, ipoplasia della porzione distale degli arti e lievi dismorfismi craniofacciali (appiattimento del volto, rime palpebrali oblique verso l'alto, filtro stretto, palato stretto e ogivale, micrognazia, orecchie a basso impianto con anomalie dell'elice). Può associarsi l'idronefrosi. Non sono stati descritti nuovi casi dopo il 1988."},"nl":{"name":"Ziekte van Hirschsprung - nagelhypoplasie - dysmorfie-syndroom","synonyms":["Syndroom van Al Gazali-Donnai-Muller"],"definition":"Ziekte van Hirschsprung - nagelhypoplasie - dysmorfie-syndroom is een fatale malformatie die gekarakteriseerd wordt door ziekte van Hirschsprung, hypoplastische nagels, hypoplasie van distale ledematen, en geringe craniofaciale dysmorfe kenmerken (plat gezicht, schuin oplopende ooglidspleten, smal filtrum, smal en hoog gebogen verhemelte, micrognathie, laagstaande oren met abnormale helices). Hydronefrose werd ook gerapporteerd. Sinds 1988 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de doença Hirschsprung-hipoplasia ungueal-dismorfia","synonyms":["Síndrome Al Gazali-Donnai-Muller","Síndrome Al Gazali-Hirschsprung"]},"pl":{"name":"Zespół choroba Hirschsprunga, hipoplazji paznokci i dysmorfii","synonyms":["Zespół Al Gazali, Donnai i Mullera"]},"cs":{"name":"Hirschsprungova choroba, hypoplázie nehtů a dysmorfismus","synonyms":["Al Gazaliové-Donnaiové-Muellerův syndrom","Al Gazali-Donnai-Muellerův syndrom"]},"uk":{"name":"Хвороба Гіршпрунга - синдром гіпоплазії та дисморфізму нігтів","synonyms":["Синдром Аль-Газалі-Доннаї-Мюллера"],"definition":"Hirschsprung disease-nail hypoplasia-dysmorphism syndrome is a fatal malformative disorder that is characterized by Hirschsprung disease, hypoplastic nails, distal limb hypoplasia and minor craniofacial dysmorphic features (flat facies, upward slanting palpebral fissures, narrow philtrum, narrow, high arched palate, micrognathia, low set ears with abnormal helices). Hydronephrosis has also been reported. There have been no further descriptions in the literature since 1988."},"zh":{"name":"先天性巨结肠-指甲发育不全-畸形综合征","synonyms":["Al Gazali-Donnai-Muller综合征"]},"tr":{"name":"Hirschsprung hastalığı-tırnak hipoplazisi-dismorfizm sendromu","synonyms":["Al Gazali-Donnai-Muller sendromu"]}},"xrefs":[{"source":"OMIM","code":"235760","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q43.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0009344","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535615","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1856110","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"584","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"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":79370,"name":"Syndromic nail anomaly","classifications":[156,187]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"3236354[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}