{"orpha":1882,"name":"Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["ANOTHER syndrome","HEDH syndrome"],"definition":"A rare, genetic, ectodermal dysplasia syndrome characterized by the association of hypohidrotic ectodermal dysplasia (manifesting with the triad of hypohidrosis, anodontia/hypodontia and hypotrichosis) with primary hypothyroidism and respiratory tract ciliary dyskinesia. Patients frequently present urticaria pigmentosa-like skin pigmentation, increased mast cells and melanin depositions in the dermis and severe, recurrent chest infections. There have been no further descriptions in the literature since 1986.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1882/","orphanet_url":"https://www.orpha.net/en/disease/detail/1882","names":{"fr":{"name":"Syndrome de dysplasie ectodermique-hypohidrose-hypothyroïdie-dyskinésie ciliaire","synonyms":["Syndrome ANOTHER","syndrome HEDH"],"definition":"Syndrome de dysplasie ectodermique rare, d'origine génétique, caractérisé par l'association d'une dysplasie ectodermique hypohidrotique (se manifestant par la triade hypohidrose, anodontie/hypodontie et hypotrichose) avec une hypothyroïdie primaire et une dyskinésie ciliaire. Les patients présentent fréquemment une pigmentation cutanée de type urticaire pigmentaire, une augmentation du nombre de mastocytes et de dépôts de mélanine dans le derme, ainsi que des infections respiratoires récurrentes sévères. Aucun cas n'a été décrit dans la littérature depuis 1986."},"de":{"name":"Hypohidrotische ektodermale Dysplasie-Hypothyreose-Ziliendyskinesie-Syndrom","synonyms":["ANOTHER-Syndrom","Dysplasie, ektodermale hypohidrotische - Hypothyreose - Ziliendyskinesie","HEDH-Syndrom"],"definition":"Ein genetisches Ektodermale-Dysplasie-Syndrom, das durch die Assoziation einer hypohidrotischen ektodermalen Dysplasie (mit der Trias Hypohidrose, Anodontie/Hypodontie und Hypotrichose) mit einer primären Hypothyreose und einer Ziliardyskinesie der Atemwege gekennzeichnet ist. Die Patienten weisen häufig eine Urtikaria-pigmentosa-ähnliche Hautpigmentierung, vermehrte Mastzellen und Melaninablagerungen in der Dermis sowie schwere, wiederkehrende Brustinfektionen auf. Seit 1986 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de displasia ectodérmica hipohidrótica-hipotiroidismo-discinesia ciliar","synonyms":["Síndrome ANOTHER","Síndrome HEDH"],"definition":"Es una displasia ectodérmica genética poco frecuente caracterizada por la asociación de displasia ectodérmica hipohidrótica (que se manifiesta con la tríada de hiperhidrosis, anodinia/hipodontia e hipertricosis) con hipotiroidismo primario y discinesia ciliar del tracto respiratorio. Con frecuencia, los pacientes presentan pigmentación cutánea de tipo urticaria pigmentosa, incremento del recuento de mastocitos, depósitos de melanina en la dermis e infecciones torácicas recurrentes y graves. No ha habido más casos descritos en la literatura desde 1986."},"it":{"name":"Sindrome da displasia ectodermica ipoidrotica, ipotiroidismo e discinesia ciliare","synonyms":["Sindrome ANOTHER"],"definition":"È una displasia ectodermica genetica rara, caratterizzata da displasia ectodermica ipoidrotica (che si manifesta con la triade ipoidrosi, anodontia/ipodontia e ipotricosi), ipotiroidismo primitivo e discinesia delle ciglia delle vie aeree. Spesso i pazienti presentano una pigmentazione cutanea che ricorda l'orticaria pigmentosa, un aumento dei depositi di mastociti e melanina nel derma, ed infezioni toraciche gravi ricorrenti. Non sono stati descritti nuovi casi dopo il 1986."},"nl":{"name":"Hypohidrotische ectodermale dysplasie - hypothyreoïdie - ciliaire dyskinesie-syndroom","synonyms":["ANOTHER-syndroom","HEDH-syndroom"],"definition":"Een zeldzame, genetische, ectodermale dysplasiesyndroom gekarakteriseerd door de associatie van hypohidrotische ectodermale dysplasie (die zich manifesteert met de triade van hypohidrose, anodontie/hypodontie en hypotrichose) met primaire hypothyreoïdie en dyskinesie van de cilia van de luchtwegen. Patiënten vertonen vaak urticaria pigmentosa-achtige pigmentatie van de huid, toename van mestcellen en melanine-afzettingen in de dermis e ernstige, recurrente infecties van de borst. Sinds 1986 zijn er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de displasia ectodérmica hipohidrótica-hipotiroidismo-discinesia ciliar","synonyms":["Síndrome ANOTHER","Síndrome HEDH"]},"pl":{"name":"Zespół hipohydrotycznej dysplazji ektodermalnej, niedoczynności tarczycy i dyskinezji rzęsek","synonyms":["Zespół HEDH","Zespół ANOTHER"]},"cs":{"name":"Syndrom zahrnující hypohidrotickou ektodermální dysplázii, hypotyreózu a ciliární dyskinezi","synonyms":["ANOTHER syndrom"]},"uk":{"name":"Гіпогідротична ектодермальна дисплазія-гіпотиреоз-циліарна дискінезія","synonyms":["Синдром ANOTHER","Синдром HEDH"],"definition":"A rare, genetic, ectodermal dysplasia syndrome characterized by the association of hypohidrotic ectodermal dysplasia (manifesting with the triad of hypohidrosis, anodontia/hypodontia and hypotrichosis) with primary hypothyroidism and respiratory tract ciliary dyskinesia. Patients frequently present urticaria pigmentosa-like skin pigmentation, increased mast cells and melanin depositions in the dermis and severe, recurrent chest infections. There have been no further descriptions in the literature since 1986."},"zh":{"name":"少汗性外胚层发育不良-甲状腺功能减退-纤毛运动异常综合征","synonyms":["ANOTHER综合征"]},"tr":{"name":"Hipohidrotik ektodermal displazi-hipotiroidi-siliyer diskinezi sendromu","synonyms":["HEDH sendromu","ANOTHER sendrom"]}},"xrefs":[{"source":"OMIM","code":"225050","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q82.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD27.02","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"931852195"},{"source":"MONDO","code":"0009150","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C565604","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1857052","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2049","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":79373,"name":"Ectodermal dysplasia syndrome","classifications":[147,156,187]},{"orpha":177107,"name":"Syndromic hypothyroidism","classifications":[156,193]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"7463217[PMID]_3944674[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_7463217[PMID]_3944674[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001596","label":"Alopecia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012265","label":"Ciliary dyskinesia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008391","label":"Dystrophic fingernails","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001810","label":"Dystrophic toenail","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002213","label":"Fine hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000966","label":"Hypohidrosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000821","label":"Hypothyroidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0045075","label":"Sparse eyebrow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002209","label":"Sparse scalp hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000632","label":"Lacrimation abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000995","label":"Melanocytic nevus","frequency":"Frequent (79-30%)","criteria":null}]}}