{"orpha":1811,"name":"Odontomicronychial dysplasia","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, hereditary ectodermal dysplasia syndrome characterized by involvement of teeth and nails - precocious eruption and shedding of deciduous dentition, precocious eruption of secondary dentition with short, rhomboid roots, and short, thin, slow growing nails.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1811/","orphanet_url":"https://www.orpha.net/en/disease/detail/1811","names":{"fr":{"name":"Dysplasie ectodermique odonto-micronychiale","definition":"Dysplasie ectodermique héréditaire rare caractérisée par une atteinte des dents et des ongles, à type d'éruption dentaire précoce et de perte des dents temporaires, d'éruption précoce des dents secondaires avec de courtes racines rhombiques et d'ongles fins et courts à croissance lente."},"de":{"name":"Dysplasie, ektodermale odonto-mikronychiale"},"es":{"name":"Displasia odontomicroniquial","definition":"Es un síndrome de displasia ectodérmica hereditaria poco frecuente caracterizado por la afectación de dientes y uñas: erupción precoz y desprendimiento de la dentición temporal, erupción precoz de la dentición secundaria con raíces cortas y romboidales, así como uñas cortas, finas y de crecimiento lento."},"it":{"name":"Displasia odonto-micro-onichiale","definition":"La displasia odonto-micro-onichiale è una displasia ectodermica ereditaria rara, che interessa i denti e le unghie, caratterizzata da eruzione e perdita precoce della dentizione decidua, eruzione precoce dei denti permanenti (con radici corte e romboidali) e unghie corte e sottili che crescono lentamente."},"nl":{"name":"Odontomicronychiale dysplasie","definition":"Odontomicronychiale dysplasie is een zeldzaam, erfelijk ectodermale dysplasiesyndroom dat gekarakteriseerd wordt door betrokkenheid van tanden en nagels, met vroegtijdig uitkomen en verliezen van het melkgebit, vroegtijdige eruptie van het volwassen gebit met korte, romboïde wortels, en korte, dunne, traaggroeiende nagels."},"pt":{"name":"Displasia odonto-microniquial"},"pl":{"name":"Dysplazja zębowa ze skróceniem płytki paznokci","definition":"*Dysplazja zębowa ze skróceniem płytki paznokci jest rzadką, dziedziczną dysplazją ektodermalną, która charakteryzuje się zajęciem zębów i paznokci - przedwczesne wyrzynanie się i wypadanie zębów mlecznych, przedwczesne wyrzynanie się zębów stałych z krótkimi romboidalnymi korzeniami oraz krótkie, cienkie, wolno rosnące paznokcie."},"cs":{"name":"Odontomikronychiální dysplázie"},"uk":{"name":"Одонтомікроніхіальна дисплазія","definition":"A rare, hereditary ectodermal dysplasia syndrome characterized by involvement of teeth and nails - precocious eruption and shedding of deciduous dentition, precocious eruption of secondary dentition with short, rhomboid roots, and short, thin, slow growing nails."},"zh":{"name":"牙-小甲发育不良"},"tr":{"name":"Odontomicronychial displazi"}},"xrefs":[{"source":"OMIM","code":"601319","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q84.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0011034","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537741","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1832473","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4053","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":139042,"name":"Malformation syndrome with odontal and/or periodontal component","classifications":[147,197]},{"orpha":79370,"name":"Syndromic nail anomaly","classifications":[156,187]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"8728698[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_8728698[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2023-04-28","source":"8728698[PMID]","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:0000670","label":"Carious teeth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000968","label":"Ectodermal dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006337","label":"Premature eruption of permanent teeth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006323","label":"Premature loss of primary teeth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001799","label":"Short nail","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008383","label":"Slow-growing nails","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001816","label":"Thin nail","frequency":"Very frequent (99-80%)","criteria":null}]}}