{"orpha":171844,"name":"Blindness-scoliosis-arachnodactyly syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare syndromic ectopia lentis characterized by progressive visual loss leading to blindness, spinal deformities such as scoliosis or kyphoscoliosis, and arachnodactyly (abnormally long, slender fingers and toes). Visual impairment often begins in childhood due to lens luxation and retinal complications. Male patients typically present with the full phenotype, whereas females may exhibit only blindness. No other associated skeletal, skin, joint, or visceral abnormalities have been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-171844/","orphanet_url":"https://www.orpha.net/en/disease/detail/171844","names":{"fr":{"name":"Syndrome de cécité-scoliose-arachnodactylie","definition":"Ectopie du cristallin syndromique rare caractérisée par une perte progressive de la vision conduisant à la cécité, des déformations de la colonne vertébrale telles que la scoliose ou la cyphoscoliose, et une arachnodactylie (doigts et orteils anormalement longs et fins). La déficience visuelle commence souvent dès l'enfance en raison d'une luxation du cristallin et de complications rétiniennes. Les patients de sexe masculin présentent généralement le phénotype complet, tandis que les femmes peuvent ne présenter que la cécité. Aucune autre anomalie associée au niveau du squelette, de la peau, des articulations ou des organes viscéraux n'a été rapportée."},"de":{"name":"Blindheit-Skoliose-Arachnodaktylie-Syndrom"},"es":{"name":"Síndrome de ceguera-escoliosis-aracnodactilia","definition":"Es un síndrome que asocia la pérdida de visión progresiva con escoliosis o cifoescoliosis y aracnodactilia en dedos de manos y pies."},"it":{"name":"Cecità - scoliosi - aracnodattilia"},"nl":{"name":"Blindheid - scoliose - arachnodactylie-syndroom","definition":"Een syndroom, gekenmerkt door de associatie van progressief verlies van gezichtsvermogen, scoliose of kyfoscoliose, en arachnodactylie van vingers en tenen."},"pt":{"name":"Síndrome de cegueira-escoliose-aracnodactilia"},"pl":{"name":"Ślepota - skolioza - arachnodaktylia"},"cs":{"name":"Syndrom zahrnující slepotu, skoliózu a arachnodaktylii"},"uk":{"name":"Синдром сліпоти-сколіозу-арахнодактилії","definition":"This syndrome associates progressive visual loss with scoliosis or kyphoscoliosis and arachnodactyly of the fingers and toes."},"zh":{"name":"失明-脊柱侧凸-蜘蛛脚样指（趾）综合征","definition":"失明-脊柱侧凸-蜘蛛指综合征指的是进行性视力障碍与脊柱侧凸或脊柱后凸及蜘蛛指（趾）有关。"},"tr":{"name":"Körlük-skolyoz-araknodaktili sendromu"}},"xrefs":[{"source":"OMIM","code":"612445","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD28.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1971955953"},{"source":"MONDO","code":"0012907","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4303548","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":139030,"name":"Rare developmental defect with connective tissue involvement","classifications":[147,156]},{"orpha":716405,"name":"Rare disorder with progressive generalized retinal disorder as a major feature","classifications":[156,189]},{"orpha":519292,"name":"Syndromic ectopia lentis","classifications":[147,189]},{"orpha":522554,"name":"Syndromic genetic ectopia lentis","classifications":[156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"18990988[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_18990988[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-08-28","source":"18990988[PMID]","terms":[{"hpo":"HP:0001166","label":"Arachnodactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000618","label":"Blindness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000572","label":"Visual loss","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007703","label":"Abnormality of retinal pigmentation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000565","label":"Esotropia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001132","label":"Lens subluxation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012376","label":"Microphakia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000541","label":"Retinal detachment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null}]}}