{"orpha":2249,"name":"Ulna hypoplasia-intellectual disability syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"A rare genetic multiple congenital anomalies syndrome characterized by mesomelic shortness of the forearms mainly due to bilateral symmetrical ulnar hypoplasia, bilateral clubfeet, anonychia congenita (absent toe and finger nails), limited knee and elbow movement, severe varus deformity and severe intellectual disability. There have been no further descriptions in the literature since 1995.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2249/","orphanet_url":"https://www.orpha.net/en/disease/detail/2249","names":{"fr":{"name":"Syndrome d'hypoplasie du cubitus-déficience intellectuelle","definition":"Le syndrome hypoplasie du cubitus - déficit intellectuel est un syndrome exceptionnel associant un raccourcissement mésomélique des avant-bras, des pieds bots bilatéraux, une aplasie ou hypoplasie de tous les ongles et un retard psychomoteur sévère."},"de":{"name":"Ulnahypoplasie-Intelligenzminderung-Syndrom","definition":"Ein seltenes genetisches Syndrom mit multiplen angeborenen Anomalien, das durch mesomele Verkürzung der Unterarme, hauptsächlich aufgrund einer beidseitigen symmetrischen Ulnarhypoplasie, beidseitige Klumpfüße, Anonychie congenita (fehlende Zehen- und Fingernägel), eingeschränkte Knie- und Ellenbogenbeweglichkeit, schwere Varusdeformität und schwere Intelligenzminderung gekennzeichnet ist. Seit 1995 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de hipoplasia de cúbito-discapacidad intelectual","definition":"La hipoplasia del cúbito-déficit intelectual es un síndrome muy poco frecuente caracterizado por acortamiento mesomélico de los antebrazos, pie equinovaro bilateral, aplasia o hipoplasia de todas las uñas y retraso psicomotor grave."},"it":{"name":"Sindrome ipospadia-disabilità intellettiva tipo Goldblatt"},"nl":{"name":"Hypoplasie van ulna - intellectuele achterstand-syndroom","definition":"Een zeldzaam genetisch syndroom met multipele congenitale anomalieën, gekenmerkt door mesomele verkorting van de onderarmen, voornamelijk door bilaterale symmetrische hypoplasie van ulna, bilaterale klompvoet, anonychia congenita (afwezige teen- en vingernagels), bewegingsbeperking van knie en elleboog, ernstige varusmisvorming, en ernstige intellectuele achterstand. Sinds 1995 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de hipoplasia do cúbito-perturbação do desenvolvimento intelectual"},"pl":{"name":"Hipoplazja kości łokciowej - niepełnosprawność intelektualna"},"cs":{"name":"Syndrom zahrnující ulnární hypoplázii a mentální retardaci"},"uk":{"name":"Синдром гіпоплазії ліктьової кістки - інтелектуальної недостатності","definition":"Ulna hypoplasia - intellectual deficit is a very rare syndrome characterized by mesomelic shortness of the forearms, bilateral clubfeet, aplasia or hypoplasia of all nails and severe psychomotor retardation."},"zh":{"name":"尺骨发育不全-智力障碍综合征"},"tr":{"name":"Ulna hipoplazisi-zihinsel yetersizlik sendromu"}},"xrefs":[{"source":"OMIM","code":"276821","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010165","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536934","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4304398","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5398","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":404574,"name":"Genetic syndrome with limb reduction defects","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":294955,"name":"Syndrome with limb reduction defects","classifications":[147,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"7625433[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_7625433[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-07-28","source":null,"terms":[{"hpo":"HP:0001817","label":"Absent fingernail","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001802","label":"Absent toenail","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000270","label":"Delayed cranial suture closure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003042","label":"Elbow dislocation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002984","label":"Hypoplasia of the radius","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003022","label":"Hypoplasia of the ulna","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000239","label":"Large fontanelles","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003027","label":"Mesomelia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001840","label":"Metatarsus adductus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002983","label":"Micromelia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003510","label":"Severe short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001883","label":"Talipes","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009465","label":"Ulnar deviation of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010059","label":"Broad hallux phalanx","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011304","label":"Broad thumb","frequency":"Frequent (79-30%)","criteria":null}]}}