{"orpha":978,"name":"ADULT syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Acro-dermato-ungual-lacrimal-tooth syndrome","Pigment anomaly-ectrodactyly-hypodontia syndrome"],"definition":"A rare ectodermal dysplasia syndrome characterized by ectrodactyly, syndactyly, mammary hypoplasia, and excessive freckling as well as other typical ectodermal defects such as hypodontia, lacrimal duct anomalies, hypotrichosis, and onychodysplasia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-978/","orphanet_url":"https://www.orpha.net/en/disease/detail/978","names":{"fr":{"name":"Syndrome ADULT","synonyms":["Syndrome de Propping-Zerres","Syndrome de pigment anormal-ectrodactylie-hypodontie"],"definition":"Dysplasie ectodermique caractérisée par une ectrodactylie, une syndactylie, une hypoplasie mammaire et la présence de taches de rousseur en quantité excessive ainsi que d'autres anomalies ectodermiques telles que l'hypodontie, des anomalies du canal lacrymal, l'hypotrichose et l'onychodysplasie."},"de":{"name":"ADULT-Syndrom","synonyms":["Akro-Dermato-Ungual-Lakrimal-Zahn-Syndrom","Pigmentanomalie-Ektrodaktylie-Hypodontie-Syndrom","Propping-Zerres-Syndrom"],"definition":"Ein seltenes Ektodermale-Dysplasie-Syndrom, das durch Ektrodaktylie, Syndaktylie, Mammarhypoplasie und übermäßige Sommersprossen sowie andere typische ektodermale Defekte wie Hypodontie, Tränenkanalanomalien, Hypotrichose und Onychodysplasie gekennzeichnet ist."},"es":{"name":"Síndrome ADULT","synonyms":["Síndrome acro-dermato-ungueal-lacrimal-dental","Síndrome de anomalías pigmentarias-ectrodactilia-hipodontia"],"definition":"Es un síndrome de displasia ectodérmica poco frecuente caracterizado por ectrodactilia, sindactilia, hipoplasia mamaria y un número elevado de pecas, así como otros defectos ectodérmicos típicos como hipodoncia, anomalías del conducto lagrimal, hipotricosis y onicodisplasia."},"it":{"name":"Sindrome ADULT","synonyms":["Anomalia della pigmentazione - ectrodattilia - ipodontia","Sindrome acro-dermo-ungueale-lacrimale-dentale","Sindrome di Propping-Zerres"],"definition":"La sindrome ADULT (acro-dermo-ungueale-lacrimale-dentale) è una displasia ectodermica (si veda questo termine) rara, caratterizzata da ectrodattilia, sindattilia, ipoplasia mammaria e massiva lentigginosi, associate ad altri difetti ectodermici caratteristici come l'ipodontia, le anomalie dei dotti lacrimali, l'ipotricosi e l'onicodisplasia."},"nl":{"name":"ADULT-syndroom","synonyms":["Acro-dermato-unguaal-lacrimaal-dentaal syndroom","Pigmentanomalie - ectrodactylie - hypodontie-syndroom","Syndroom van Propping Zerres"],"definition":"Een zeldzaam ectodermale dysplasiesyndroom, gekarakteriseerd door ectrodactylie, syndactylie, hypoplasie van melkklieren, en overmatige sproetvorming, alsook andere typische ectodermale defecten zoals hypodontie, anomalieën van traankanaal, hypotrichose, en onychodysplasie."},"pt":{"name":"Síndrome ADULT","synonyms":["Alterações pigmentares-ectrodactilia-hipodontia","Síndrome Propping-Zerres","Síndrome acro-dermo-ungueal-lacrimal-dentário"]},"pl":{"name":"Zespół ADULT","synonyms":["Zespół kończynowo - skórno - paznokciowo - łzowo - zębowy","Zespół zaburzeń pigmentu, ektrodaktylii i hipodoncji"]},"cs":{"name":"Syndrom zahrnující abnormální pigmentace, ektrodaktylii a hypodontii","synonyms":["ADULT syndrom","Akro-dermato-unguální-lakrimální-zubní syndrom"]},"uk":{"name":"Синдром ADULT","synonyms":["Акро-дермато-унгуально-слізно-зубний синдром","Синдром пігментної аномалії-ектродактилії-гіподонтії"],"definition":"A rare ectodermal dysplasia syndrome characterized by ectrodactyly, syndactyly, mammary hypoplasia, and excessive freckling as well as other typical ectodermal defects such as hypodontia, lacrimal duct anomalies, hypotrichosis, and onychodysplasia."},"zh":{"name":"ADULT综合征","synonyms":["色素异常-外胚层发育不全-牙发育不全综合征"]},"tr":{"name":"ADULT sendromu","synonyms":["Acro-dermato-toungual-lakrimal-diş sendromu","Pigment anomalisi-ektrodaktili-hipodonti sendromu"]}},"xrefs":[{"source":"OMIM","code":"103285","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD27.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1445741645"},{"source":"MONDO","code":"0007072","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538052","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1863204","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"384","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98609,"name":"EEC syndrome and related disorders","classifications":[147,156,187,189]},{"orpha":498477,"name":"Ectrodactyly with and without other manifestations","classifications":[147,156,199]},{"orpha":183580,"name":"Genetic malformation syndrome with odontal and/or periodontal component","classifications":[156]},{"orpha":404574,"name":"Genetic syndrome with limb reduction defects","classifications":[156]},{"orpha":139042,"name":"Malformation syndrome with odontal and/or periodontal component","classifications":[147,197]},{"orpha":294955,"name":"Syndrome with limb reduction defects","classifications":[147,199]}],"children":[],"genes":[{"symbol":"TP63","name":"tumor protein p63","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17041931[PMID]","hgnc":"15979","ensembl":"ENSG00000073282","omim":"603273","loci":["3q28"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":50.0,"area":"Worldwide","status":"Validated","source":"Pr MANOUVRIER-HANU Sylvie[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_27469932[PMID]_22607287[PMID]_21078104[PMID]_16114047[PMID]_16724007[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001597","label":"Abnormal nail morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000958","label":"Dry skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002213","label":"Fine hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100798","label":"Fingernail dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001480","label":"Freckling","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000995","label":"Melanocytic nevus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001803","label":"Nail pits","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000579","label":"Nasolacrimal duct obstruction","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200042","label":"Skin ulcer","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001839","label":"Split foot","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000963","label":"Thin skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001770","label":"Toe syndactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100797","label":"Toenail dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006482","label":"Abnormal dental morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002561","label":"Absent nipple","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001596","label":"Alopecia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003187","label":"Breast hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002557","label":"Hypoplastic nipples","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002209","label":"Sparse scalp hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000271","label":"Abnormality of the face","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000426","label":"Prominent nasal bridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Occasional (29-5%)","criteria":null}]}}