{"orpha":63442,"name":"Angel-shaped phalango-epiphyseal dysplasia","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["ASPED"],"definition":"A form of acromelic dysplasia characterized by the distinctive radiological sign of angel-shaped middle phalanges, a typical metacarpophalangeal pattern profile (mainly affecting first metacarpals and middle phalanges of second, third and fifth digits, which all appear short), epiphyseal changes in the hips and, in some, abnormal dentition and delayed bone age.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-63442/","orphanet_url":"https://www.orpha.net/en/disease/detail/63442","names":{"fr":{"name":"Dysplasie phalango-épiphysaire en ailes d'anges","definition":"Forme de dysplasie acromélique caractérisée par une radiographie mettant en évidence l'aspect distinctif, en forme d'ange, des phalanges moyennes, un profil métacarpophalangien typique (affectant principalement les premiers métacarpiens et les phalanges moyennes des 2<sup>es</sup>, 3<sup>es</sup> et 5<sup>es</sup> doigts, qui semblent tous courts), des lésions épiphysaires des hanches et, dans certains cas, une dentition anormale et un retard de l'âge osseux."},"de":{"name":"Dysplasie, engelförmige phalango-epiphysäre","synonyms":["ASPED (Angel-shaped phalango-epiphyseal dysplasia)"]},"es":{"name":"Displasia epifisiaria-falángica en forma de ángel","synonyms":["ASPED"],"definition":"Es una forma de displasia acromélica caracterizada por unos signos radiológicos distintivos de falanges medias en forma de ángel, un patrón metacarpofalángico característico (que afecta principalmente a los primeros metacarpianos y falanges medias del segundo, tercer y quinto dedo, todos los cuales aparecen cortos) cambios epifisarios en las caderas y, en algunos casos, anomalías dentarias y edad ósea retrasada."},"it":{"name":"Displasia ad ali d'angelo delle epifisi falangeali","definition":"La displasia ad ali d'angelo delle epifisi falangeali (ASPED) è una forma di displasia acromelica (si veda questo termine), caratterizzata da un segno radiologo caratteristico, con falangi medie a forma di ali d'angelo, un profilo metacarpofalangeo caratteristico (che interessa prevalentemente il primo metacarpo e la falange media del secondo, terzo e quinto dito, che sono più corti), anomalie epifisarie delle anche e, in alcuni casi, anomalie della dentizione e ritardo della maturazione ossea."},"nl":{"name":"Engelvormige falango-epifysaire dysplasie","synonyms":["ASPED"],"definition":"Een vorm van acromelische dysplasie, gekarakteriseerd door het typische radiologische kenmerk van engelvormige middelste falangen, een typisch metacarpofalangeaal patroon (dat vooral de eerste metacarpalen en middelste falangen van de tweede, derde en vijfde vingers treft, die allen kort lijken), epifysaire veranderingen in de heupen, en, bij sommigen, een abnormaal gebit en vertraagde botmaturatie."},"pt":{"name":"Falanges em forma de anjo - displasia epifisária","synonyms":["ASPED"]},"pl":{"name":"Dysplazja paliczków w kształcie aniołów i nasad kości","synonyms":["ASPED"]},"cs":{"name":"Falangoepifyzární dysplázie tvaru anděla","synonyms":["ASPED"]},"uk":{"name":"Янголоподібна фаланго-епіфізарна дисплазія","synonyms":["ASPED"],"definition":"A form of acromelic dysplasia characterized by the distinctive radiological sign of angel-shaped middle phalanges, a typical metacarpophalangeal pattern profile (mainly affecting first metacarpals and middle phalanges of second, third and fifth digits, which all appear short), epiphyseal changes in the hips and, in some, abnormal dentition and delayed bone age."},"zh":{"name":"天使形指（趾）骨骨骺发育不良","synonyms":["ASPED"]},"tr":{"name":"Melek şekilli falango-epifizyal displazisi","synonyms":["ASPED"]}},"xrefs":[{"source":"OMIM","code":"105835","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q78.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.8Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1095628863"},{"source":"MONDO","code":"0007114","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536361","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1739384","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"671","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10066017","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93436,"name":"Acromelic dysplasia","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"GDF5","name":"growth differentiation factor 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"15173244[PMID]_22828428[PMID]","hgnc":"4220","ensembl":"ENSG00000125965","omim":"601146","loci":["20q11.22"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["All ages"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":20.0,"area":"Worldwide","status":"Validated","source":"15173244[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0005930","label":"Abnormality of epiphysis morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010034","label":"Short 1st metacarpal","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005819","label":"Short middle phalanx of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004220","label":"Short middle phalanx of the 5th finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000684","label":"Delayed eruption of teeth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001385","label":"Hip dysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008843","label":"Hip osteoarthritis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000668","label":"Hypodontia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Occasional (29-5%)","criteria":null}]}}