{"orpha":1028,"name":"Amelo-onycho-hypohidrotic syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Ameloonychohypohidrotic ectodermal dysplasia","Ameloonychohypohidrotic syndrome"],"definition":"A rare ectodermal dysplasia syndrome characterized by the association of hypocalcified and hypoplastic tooth enamel, distal finger and toenail onycholysis with subungual hyperkeratosis, and functional hypohidrosis. Additional manifestations include seborrheic scalp dermatitis and rough, dry skin. Lacrimal puncta may be occasionally absent. There have been no further descriptions in the literature since 1975.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1028/","orphanet_url":"https://www.orpha.net/en/disease/detail/1028","names":{"fr":{"name":"Syndrome amélo-onycho-hypohidrotique","synonyms":["Dysplasie ectodermique améloonychohypohidrotique","Syndrome améloonychohypohidrotique"],"definition":"Syndrome rare de dysplasie ectodermique caractérisé par l'association d'une hypocalcification et d'une hypoplasie de l'émail dentaire, d'une onycholyse des ongles de pieds avec hyperkératose sous-unguéale et d'une hypohydrose fonctionnelle. Une dermatite séborrhéique du cuir chevelu et une peau sèche et rêche figurent parmi les autres signes de la maladie. Certains patients présentent une absence de points lacrymaux. Aucun cas n'a été décrit dans la littérature depuis 1975."},"de":{"name":"Amelo-onycho-hypohidrotisches Syndrom","synonyms":["Ektodermale Dysplasie, amelo-onycho-hypohidrotische"],"definition":"Ein seltenes ektodermales Dysplasie-Syndrom, das durch die Assoziation von hypokalzifiziertem und hypoplastischem Zahnschmelz, distaler Finger- und Zehennagel-Onycholyse mit subungualer Hyperkeratose und funktioneller Hypohidrose gekennzeichnet ist. Weitere Manifestationen sind seborrhoische Kopfhautdermatitis und raue, trockene Haut. Tränenpünktchen können gelegentlich fehlen. Seit 1975 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome amelo-ónico-hipohidrótico","synonyms":["Displasia ectodérmica amelo-ónico-hipohidrótica"],"definition":"Es un síndrome de displasia ectodérmica poco frecuente caracterizado por la asociación de esmalte dental hipocalcificado e hipoplásico, onicólisis distal de dedos de manos y pies con hiperqueratosis subungueal e hipohidrosis funcional. Otras manifestaciones adicionales incluyen dermatitis seborreica del cuero cabelludo y piel áspera y seca. En ocasiones no existe punto lacrimal. No ha habido más descripciones en la literatura desde 1975."},"it":{"name":"Sindrome amelo-onico-ipoidrotica","definition":"Si tratta di una displasia ectodermica rara, caratterizzata da ipocalcificazione e ipoplasia dello smalto dei denti, onicolisi della porzione distale delle unghie delle mani e dei piedi con ipercheratosi subungueale e ipoidrosi funzionale. Altri segni clinici comprendono la dermatite seborroica del cuoio capelluto e la cute ruvida e secca. Occasionalmente si associa ad agenesia dei punti lacrimali. Non sono stati descritti nuovi casi dopi il 1975."},"nl":{"name":"Amelo-onycho-hypohidrotisch syndroom","synonyms":["Amelo-onychohypohidrotisch syndroom","Amelo-onychohypohidrotische ectodermale dysplasie"],"definition":"Een zeldzaam ectodermale dysplasiesyndroom gekarakteriseerd door de associatie van hypocalcificatie en hypoplasie van het tandglazuur, onycholyse van distale vinger- en teennagels met subunguale hyperkeratose, en functionele hypohidrose. Bijkomende manifestaties zijn onder meer seborroïsche dermatitis op de hoofdhuid en ruwe, droge huid. Traanpunten (punctum lacrimale) kunnen soms afwezig zijn. Sinds 1975 zijn er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Síndrome amelo-onico-hipohidrótico"},"pl":{"name":"Zespół kończynowo-paznokciowo-hipohydrotyczny","synonyms":["Ameloonychohypohidrotic ectodermal dysplasia","Ameloonychohypohidrotic syndrome"]},"cs":{"name":"Ameloonychohypohidrotický syndrom","synonyms":["Ameloonychohypohidrotic ectodermal dysplasia","Ameloonychohypohidrotic syndrome"]},"uk":{"name":"Амело-оніхо-гіпогідротичний синдром","synonyms":["Амелооніхогіпогідротична ектодермальна дисплазія","Амелооніхогіпогідротичний синдром"],"definition":"A rare ectodermal dysplasia syndrome characterized by the association of hypocalcified and hypoplastic tooth enamel, distal finger and toenail onycholysis with subungueal hyperkeratosis, and functional hypohidrosis. Additional manifestations include seborrheic scalp dermatitis and rough, dry skin. Lacrymal punctae may be occasionally absent. There have been no further descriptions in the literature since 1975."},"zh":{"name":"甲成釉质不良-少汗综合征","synonyms":["甲成釉质不良-少汗外胚层发育不良"]},"tr":{"name":"Amelo-oniko-hipohidrotik sendrom","synonyms":["Ameliaonikohipohidrotik sendrom","Ameliaonikohipohidrotik ektodermal displazi"]}},"xrefs":[{"source":"OMIM","code":"104570","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q82.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD27.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1700210133"},{"source":"MONDO","code":"0007095","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538245","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1863006","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"647","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]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["No data available"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"122795[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_122795[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001231","label":"Abnormal fingernail morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011073","label":"Abnormality of dental color","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000682","label":"Abnormality of dental enamel","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000962","label":"Hyperkeratosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000966","label":"Hypohidrosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001800","label":"Hypoplastic toenails","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001806","label":"Onycholysis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006286","label":"Yellow-brown discoloration of the teeth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006482","label":"Abnormal dental morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006288","label":"Advanced eruption of teeth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000684","label":"Delayed eruption of teeth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000958","label":"Dry skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002213","label":"Fine hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009804","label":"Tooth agenesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000232","label":"Everted lower lip vermilion","frequency":"Occasional (29-5%)","criteria":null}]}}