{"orpha":1891,"name":"Intellectual disability-spasticity-ectrodactyly syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Jancar syndrome"],"definition":"Intellectual disability-spasticity-ectrodactyly syndrome is a rare intellectual disability syndrome characterized by severe intellectual disability, spastic paraplegia (with wasting of the lower limbs) and distal transverse defects of the limbs (e.g. ectrodactyly, syndactyly, clinodactyly of the hands and/or feet).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1891/","orphanet_url":"https://www.orpha.net/en/disease/detail/1891","names":{"fr":{"name":"Syndrome d'ectrodactylie-paraplégie spastique-déficience intellectuelle","synonyms":["Syndrome de Jancar"],"definition":"Le syndrome d'ectrodactylie-paraplégie spastique-déficience intellectuelle est un syndrome rare caractérisé par un déficit intellectuel sévère, une paraplégie spastique (avec une perte musculaire affectant les membres inférieurs) et des anomalies distales transverses des membres (par ex. ectrodactylie, syndactylie, clinodactylie des mains et/ou des pieds)."},"de":{"name":"Intelligenzminderung-spastische Paraplegie-Ektrodaktylie-Syndrom","synonyms":["Jancar-Syndrom","Syndromale Intelligenzminderung mit Spastik und distalen transversalen Defekten der Gliedmaßen"],"definition":"Das Jancar-Syndrom ist charakterisiert durch eine schwere Intelligenzminderung, spastische Paraplegie (mit verkümmerten unteren Extremitäten) und weiteren distalen Extremitätenanomalien (e.g. Ektrodaktylie, Syndaktylie, Klinodaktylie der Hände und Füße)."},"es":{"name":"Síndrome de discapacidad intelectual-espasticidad-ectrodactilia","synonyms":["Síndrome de Jancar"],"definition":"El síndrome de discapacidad intelectual - espasticidad - ectrodactilia es un síndrome de discapacidad intelectual poco frecuente caracterizado por discapacidad intelectual grave, paraplejia espástica (con atrofia de las extremidades inferiores) y defectos transversales distales de las extremidades (p.ej. ectrodactilia, sindactilia, clinodactilia de las manos y/o pies)."},"it":{"name":"Disabilità intellettiva-spasticità-ectrodattilia","synonyms":["Sindrome di Jancar"],"definition":"La disabilità intellettiva-spasticità-ectrodattilia è una malattia rara caratterizzata da disabilità intellettiva grave, paraplegia spastica (associata ad atrofia degli arti inferiori) e difetti trasversali distali degli arti (ectrodattilia, sindattilia, clinodattilia delle mani e/o dei piedi)."},"nl":{"name":"Intellectuele achterstand - spasticiteit - ectrodactylie-syndroom","synonyms":["Syndroom van Jancar"],"definition":"Intellectuele achterstand - spasticitiet - ectrodactylie syndroom is een zeldzaam mentale retardatiesyndroom dat wordt gekarakteriseerd door ernstige intellectuele beperkingen, spastische paraplegie (met krachtverlies in de onderste ledematen) en distale transversale defecten aan de ledematen (e.g. ectrodactylie, syndactylie, clinodactylie aan handen en/of voeten)."},"pt":{"name":"Síndrome de perturbação do desenvolvimento intelectual-espasticidade-ectrodactilia","synonyms":["Síndrome Jancar"]},"pl":{"name":"Niepełnosprawność intelektualna - spastyczność - ektrodaktylia","synonyms":["Zespół Jancar"]},"cs":{"name":"Syndrom zahrnující mentální retardaci, spasticitu a ektrodaktylii","synonyms":["Jancarův syndrom"]},"uk":{"name":"Синдром інтелектуальної недостатності-спастичності-ектродактилії","synonyms":["Синдром Джанкара"],"definition":"Intellectual disability-spasticity-ectrodactyly syndrome is a rare intellectual disability syndrome characterized by severe intellectual disability, spastic paraplegia (with wasting of the lower limbs) and distal transverse defects of the limbs (e.g. ectrodactyly, syndactyly, clinodactyly of the hands and/or feet)."},"zh":{"name":"智力障碍-痉挛-缺指（趾）综合征","synonyms":["Jancar综合征"]},"tr":{"name":"Zihinsel yetersizlik-spastisite-ektrodaktili sendromu","synonyms":["Jancar sendromu"]}},"xrefs":[{"source":"OMIM","code":"246555","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0009524","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537446","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0796001","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3523","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":[],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"8368260[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_8368260[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003272","label":"Abnormality of the hip bone","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002817","label":"Abnormality of the upper limb","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007598","label":"Bilateral single transverse palmar creases","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001258","label":"Spastic paraplegia","frequency":"Frequent (79-30%)","criteria":null}]}}