{"orpha":2310,"name":"Absence deformity of leg-cataract syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"A very rare congenital limb malformation syndrome characterized by absence deformity of one leg, progressive scoliosis, short stature, and congenital cataract associated with dysplasia of the optic nerve. No intellectual deficit has been reported. There have been no further descriptions in the literature since 1968.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2310/","orphanet_url":"https://www.orpha.net/en/disease/detail/2310","names":{"fr":{"name":"Syndrome d'hypoplasie de la jambe-cataracte","definition":"Syndrome très rare de malformation congénitale des membres caractérisé par une hypoplasie de l'une des deux jambes, une scoliose progressive, une petite taille et une cataracte congénitale associée à une dysplasie du nerf optique. Aucune déficience intellectuelle n'a été rapportée. Aucun autre cas n'a été décrit dans la littérature depuis 1968."},"de":{"name":"Syndrom der Beinverlust-Deformität mit Katarakt","definition":"Ein sehr seltene syndromale Gliedmaßenfehlbildung, die durch die Verlust-Deformität eines Beins, fortschreitende Skoliose, Kleinwuchs und angeborenen Katarakt in Verbindung mit einer Dysplasie des Sehnervs gekennzeichnet ist. Es wurde kein intellektuelles Defizit berichtet. Seit 1968 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de hipoplasia de pierna-catarata","definition":"Es una malformación sindrómica de las extremidades muy poco frecuente caracterizada por la ausencia de una extremidad inferior, escoliosis progresiva, talla baja, y cataratas congénitas asociadas a displasia del nervio óptico. No se ha observado discapacidad intelectual. No ha habido más descripciones en la literatura desde 1968."},"it":{"name":"Ipoplasia della gamba - cataratta","definition":"L'ipoplasia della gamba - cataratta è una condizione sindromica molto rara a carico degli arti, descritta in due ragazzi con consanguineità remota. È caratterizzata da ipoplasia della gamba sinistra, scoliosi progressiva, bassa statura, cataratta congenita associata a displasia del nervo ottico. Non è presente deficit cognitivo"},"nl":{"name":"Afwezigheid van been - cataract-syndroom","definition":"Een zeer zeldzaam syndroom van malformatie van ledemaat, gekarakteriseerd door afwezigheid van één been, progressieve scoliose, kleine gestalte, en congenitaal cataract geassocieerd met dysplasie van oogzenuw. Er werd geen intellectuele achterstand gerapporteerd. Sinds 1968 zijn er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de malformação ausência de perna-cataratas"},"pl":{"name":"Brak nogi - zaćma"},"cs":{"name":"Syndrom zahrnující absenci deformity nohy a kataraktu"},"uk":{"name":"Синдром однобічної деформації ноги та катаракти","definition":"A very rare congenital limb malformation syndrome characterized by absence deformity of one leg, progressive scoliosis, short stature, and congenital cataract associated with dysplasia of the optic nerve. No intellectual deficit has been reported. There have been no further descriptions in the literature since 1968."},"zh":{"name":"腿-白内障综合征缺失畸形"},"tr":{"name":"Bacakta deformite yokluğu-katarakt sendromu"}},"xrefs":[{"source":"OMIM","code":"246000","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0009516","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4274843","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":404574,"name":"Genetic syndrome with limb reduction defects","classifications":[156]},{"orpha":294955,"name":"Syndrome with limb reduction defects","classifications":[147,199]},{"orpha":98641,"name":"Syndromic cataract","classifications":[189]},{"orpha":522548,"name":"Syndromic genetic cataract","classifications":[156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"5694533[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_5694533[PMID]"}],"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:0002823","label":"Abnormality of femur morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002814","label":"Abnormality of the lower limb","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003307","label":"Hyperlordosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009816","label":"Lower limb undergrowth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002023","label":"Anal atresia","frequency":"Frequent (79-30%)","criteria":null}]}}