{"orpha":1067,"name":"Aniridia-ptosis-intellectual disability-familial obesity syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"An extremely rare syndrome described in three members of a family (a mother and her two children) that is characterized by the association of various ocular abnormalities (partial or complete aniridia, ptosis, pendular nystagmus, corneal pannus, , persistent pupillary membrane, lenticular opacities, foveal hypoplasia, and low visual acuity) with various systemic anomalies including intellectual disability and obesity in the two children, and alopecia, cardiac abnormalities, and frequent spontaneous abortion in the mother. There have been no further descriptions in the literature since 1986.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1067/","orphanet_url":"https://www.orpha.net/en/disease/detail/1067","names":{"fr":{"name":"Syndrome d'aniridie-ptosis-déficience intellectuelle-obésité","definition":"Le syndrome d'aniridie-ptosis-déficience intellectuelle-obésité est un syndrome extrêmement rare décrit chez trois membres d'une même famille (une mère et ses deux enfants). Il se caractérise par l'association de plusieurs anomalies oculaires (aniridie partielle ou complète, ptosis, nystagmus pendulaire, pannus cornéen, persistance de la membrane pupillaire, opacités lenticulaires, hypoplasie fovéale et baisse de l'acuité visuelle) et de plusieurs anomalies systémiques incluant une déficience intellectuelle et une obésité chez les deux enfants, ainsi qu'une alopécie, des anomalies cardiaques et de fréquents avortements spontanés chez la mère. Il n'y a pas eu de description ultérieure de la maladie dans la littérature depuis 1986."},"de":{"name":"Aniridie-Ptosis-Intelligenzminderung-familiäre Adipositas-Syndrom"},"es":{"name":"Síndrome de aniridia-ptosis-discapacidad intelectual-obesidad familiar","definition":"Es un síndrome extremadamente infrecuente, descrito en tres miembros de una familia (una madre y sus dos hijos), caracterizado por la asociación de diversas anomalías oculares (aniridia parcial o completa, ptosis, nistagmo pendular, pannus corneal, membrana pupilar persistente, opacidades lenticulares, hipoplasia foveal y baja agudeza visual) con varias anomalías sistémicas que incluyen discapacidad intelectual y obesidad en los dos niños, así como alopecia, anomalías cardíacas y abortos espontáneos en la madre. No ha habido más casos descritos en la literatura desde 1986."},"it":{"name":"Sindrome aniridia-ptosi-disabilità intellettiva-obesità familiare"},"nl":{"name":"Aniridie - ptosis - intellectuele achterstand - familiale obesitas-syndroom","definition":"Een uiterst zeldzaam syndroom dat werd beschreven bij drie leden van een familie (een moeder en haar twee kinderen), en dat wordt gekarakteriseerd door de associatie van verschillende oogafwijkingen (partiële of complete aniridie, ptose, pendelnystagmus, corneapannus, persisterend pupilmembraan, lenstroebelingen, foveale hypoplasie, en geringe gezichtsscherpte) met diverse systemische anomalieën waaronder intellectuele achterstand en obesitas bij de twee kinderen, en alopecie, hartafwijkingen, en frequent spontane abortus bij de moeder. Sinds 1986 zijn er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de aniridia-ptose-perturbação do desenvolvimento intelectual-obesidade familiar"},"pl":{"name":"Aniridia - ptoza - niepełnosprawność intelektualna -otyłość rodzinna"},"cs":{"name":"Syndrom zahrnující aniridii, ptózu, mentální retardaci a familiární obezitu"},"uk":{"name":"Синдром аніридії-птозу-інтелектуальної недостатності-сімейного ожиріння","definition":"An extremely rare syndrome described in three members of a family (a mother and her two children) that is characterized by the association of various ocular abnormalities (partial or complete aniridia, ptosis, pendular nystagmus, corneal pannus, , persistent pupillary membrane, lenticular opacities, foveal hypoplasia, and low visual acuity) with various systemic anomalies including intellectual disability and obesity in the two children, and alopecia, cardiac abnormalities, and frequent spontaneous abortion in the mother. There have been no further descriptions in the literature since 1986."},"zh":{"name":"无虹膜-上睑下垂-智力障碍-家族性肥胖综合征"},"tr":{"name":"Aniridi-pitoz-zihinsel yetersizlik-ailesel obezite sendromu"}},"xrefs":[{"source":"ICD-10","code":"Q13.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0015198","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4303736","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"689","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":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":519286,"name":"Rare disorder of the pupil","classifications":[189]},{"orpha":522568,"name":"Rare genetic disorder of the pupil","classifications":[156]},{"orpha":98557,"name":"Syndromic aniridia","classifications":[147,156,189]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"3091805[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_3091805[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0008053","label":"Aplasia/Hypoplasia of the iris","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007957","label":"Corneal opacity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009917","label":"Persistent pupillary membrane","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001596","label":"Alopecia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005599","label":"Hypopigmentation of hair","frequency":"Occasional (29-5%)","criteria":null}]}}