{"orpha":1660,"name":"Dermoodontodysplasia","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"A rare ectodermal dysplasia syndrome characterized by a variably severe clinical picture comprising dry, thin skin, onychodysplasia, trichodysplasia, and dental abnormalities (such as hypodontia, microdontia, and persistence of deciduous teeth). There have been no further descriptions in the literature since 1990.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1660/","orphanet_url":"https://www.orpha.net/en/disease/detail/1660","names":{"fr":{"name":"Dysplasie dermo-dentaire","definition":"Syndrome rare de dysplasie ectodermique caractérisé par un tableau clinique de sévérité variable à type de peau sèche et fine, d'onychodysplasie, de trichodysplasie et d'anomalies dentaires (telles que l'hypodontie, la microdontie et la persistance des dents de lait). Aucun cas n'a été décrit dans la littérature depuis 1990."},"de":{"name":"Dermoodontodysplasie","definition":"Ein seltenes Ektodermale-Dysplasie-Syndrom, das durch ein variabel ausgeprägtes klinisches Bild mit trockener, dünner Haut, Onychodysplasie, Trichodysplasie und Zahnanomalien (wie Hypodontie, Mikrodontie und Persistenz von Milchzähnen) gekennzeichnet ist. Seit 1990 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Dermo-odonto-displasia","definition":"Es un síndrome de displasia ectodérmica poco frecuente caracterizado por un cuadro clínico de gravedad variable que incluye piel seca y fina, onicodisplasia, tricodisplasia y anomalías dentales (como hipodoncia, microdoncia y persistencia de los dientes temporales). No ha habido más casos descritos en la literatura desde 1990."},"it":{"name":"Dermo-odonto-displasia","definition":"Si tratta di una displasia ectodermica rara, caratterizzata da un quadro clinico di gravità variabile che comprende la cute secca e sottile, l'onicodisplasia, la tricodisplasia e le anomalie dei denti (ipodontia, microdontia e persistenza dei denti decidui). Non sono stati descritti nuovi casi dopo il 1990."},"nl":{"name":"Dermo-odontodysplasie","definition":"Een zeldzaam syndroom van ectodermale dysplasie, gekenmerkt door een klinisch beeld met variabele gradaties van ernst, bestaande uit droge, dunne huid, onychodysplasie, trichodysplasie, en dentale anomalieën (zoals hypodontie, microdontie, en persisterende melktanden). Sinds 1990 zijn er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Dermato-odontodisplasia"},"pl":{"name":"Dermoodontodysplazja"},"cs":{"name":"Dermoodonto dysplázie"},"uk":{"name":"Дермоодонтодисплазія","definition":"A rare ectodermal dysplasia syndrome characterized by a variably severe clinical picture comprising dry, thin skin, onychodysplasia, trichodysplasia, and dental abnormalities (such as hypodontia, microdontia, and persistence of deciduous teeth). There have been no further descriptions in the literature since 1990."},"zh":{"name":"皮肤牙体发育不良"},"tr":{"name":"Dermoodontodisplazi"}},"xrefs":[{"source":"OMIM","code":"125640","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":"1963707662"},{"source":"MONDO","code":"0007449","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C565103","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1852144","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1816","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":183580,"name":"Genetic malformation syndrome with odontal and/or periodontal component","classifications":[156]},{"orpha":139042,"name":"Malformation syndrome with odontal and/or periodontal component","classifications":[147,197]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":11.0,"area":"Worldwide","status":"Validated","source":"6616948[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_6616948[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000968","label":"Ectodermal dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100798","label":"Fingernail dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000691","label":"Microdontia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002231","label":"Sparse body hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002209","label":"Sparse scalp hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000963","label":"Thin skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100797","label":"Toenail dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009804","label":"Tooth agenesis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002552","label":"Trichodysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007477","label":"Abnormal dermatoglyphics","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000492","label":"Abnormal eyelid morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000958","label":"Dry skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000966","label":"Hypohidrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000303","label":"Mandibular prognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000995","label":"Melanocytic nevus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Frequent (79-30%)","criteria":null}]}}