{"orpha":2150,"name":"Hirschsprung disease-type D brachydactyly syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Hirschsprung disease-type D brachydactyly syndrome is characterized by Hirschsprung disease and absence or hypoplasia of the nails and distal phalanges of the thumbs and great toes (type D brachydactyly). It has been described in four males from one family (two brothers and two maternal uncles). Transmission appears to be X-linked recessive but autosomal dominant inheritance with incomplete penetrance in females can not be ruled out.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2150/","orphanet_url":"https://www.orpha.net/en/disease/detail/2150","names":{"fr":{"name":"Syndrome de maladie de Hirschsprung-brachydactylie type D","definition":"Le syndrome de maladie de Hirschsprung-brachydactylie type D est caractérisé par une maladie de Hirschsprung et l'absence ou l'hypoplasie des ongles et des phalanges distales des pouces et des gros orteils (brachydactylie de type D). Il a été décrit chez quatre patients masculins d'une même famille (deux frères et deux de leurs oncles maternels). Ce syndrome pourrait être transmis sur le mode récessif lié à l'X mais une transmission autosomique dominante avec pénétrance incomplète chez les femmes ne peut pas être exclue."},"de":{"name":"Hirschsprung-Krankheit Typ D-Brachydaktylie-Syndrom","definition":"Dieses Syndrom ist gekennzeichnet durch Hirschsprung-Krankheit und hypoplastische oder fehlende Nägel und Endphalangen der Daumen und Großzehen (Brachydaktylie Typ D). Es wurde in 1 Familie bei 4 männlichen Patienten beschrieben (2 Brüder und 2 Onkel mütterlicherseits). Es scheint sich um X-chromosomal-rezessive Vererbung zu handeln, aber autosomal-dominante mit unvollständiger Penetranz im weiblichen Geschlecht kann nicht ausgeschlossen werden."},"es":{"name":"Síndrome de enfermedad de Hirschsprung tipo D-braquidactilia","definition":"Es un síndrome caracterizado por la enfermedad de Hirschsprung y la ausencia o hipoplasia de las uñas y de las falanges distales del pulgar y del primer dedo del pie (braquidactilia tipo D). Se ha descrito en cuatro varones de una misma familia (dos hermanos y dos tíos maternos). La transmisión parece ser recesiva ligada al cromosoma X, pero no se puede descartar la herencia autosómica dominante con penetrancia incompleta en las mujeres."},"it":{"name":"Brachidattialia di Hirschsprung"},"nl":{"name":"Ziekte van Hirschsprung - brachydactylie type D-syndroom","definition":"Een syndroom, gekenmerkt door ziekte van Hirschsprung en afwezigheid of hypoplasie van nagels en distale falangen van duim en hallux (brachydactylie type D). Ziekte van Hirschsprung - brachydactylie type D-syndroom werd beschreven bij vier mannen van één familie (twee broers en twee nonkels langs moederszijde). Transmissie lijkt X-gebonden recessief te gebeuren, maar autosomaal dominante overerving met onvolledige penetrantie bij vrouwen kan niet uitgesloten worden."},"pt":{"name":"Síndrome de doença Hirschsprung-braquidactilia tipo D"},"pl":{"name":"Choroba Hirschsprunga - brachydaktylia typu D"},"cs":{"name":"Syndrom zahrnující Hirschsprungovu chorobu a brachydaktylii typu D"},"uk":{"name":"Синдром брахідактилії типу D при хворобі Гіршпрунга","definition":"Hirschsprung disease-type D brachydactyly syndrome is characterized by Hirschsprung disease and absence or hypoplasia of the nails and distal phalanges of the thumbs and great toes (type D brachydactyly). It has been described in four males from one family (two brothers and two maternal uncles). Transmission appears to be X-linked recessive but autosomal dominant inheritance with incomplete penetrance in females can not be ruled out."},"zh":{"name":"先天性巨结肠-短指（趾）症D型综合征"},"tr":{"name":"Hirschsprung hastalığı-tip D brakidaktili sendromu"}},"xrefs":[{"source":"OMIM","code":"306980","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q43.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0016294","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538319","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4303481","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2700","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]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"6823428[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_6823428[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:0010624","label":"Aplastic/hypoplastic toenail","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001804","label":"Hypoplastic fingernail","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009650","label":"Short distal phalanx of the thumb","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010111","label":"Short phalanx of hallux","frequency":"Frequent (79-30%)","criteria":null}]}}