{"orpha":1465,"name":"Coffin-Siris syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["CSS"],"definition":"A rare genetic syndromic intellectual disability of broad phenotypic range characterized by developmental delay and variable clinical features which most commonly, but not consistently, include aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, and coarse facial features.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1465/","orphanet_url":"https://www.orpha.net/en/disease/detail/1465","names":{"fr":{"name":"Syndrome de Coffin-Siris","synonyms":["CSS"],"definition":"Déficience intellectuelle syndromique rare d'origine génétique caractérisée par une aplasie ou une hypoplasie de la phalange distale ou de l'ongle du cinquième doigt, un retard de développement, des traits de visage plutôt grossiers, ainsi que d'autres manifestations cliniques variables."},"de":{"name":"Coffin-Siris-Syndrom","synonyms":["CSS"],"definition":"Eine seltene genetische syndromale intellektuelle Entwicklungsstörung, die durch Aplasie oder Hypoplasie der distalen Phalanx oder des Nagels des fünften Fingers, Entwicklungsverzögerung, grobe Gesichtszüge und andere variable klinische Manifestationen gekennzeichnet ist."},"es":{"name":"Síndrome de Coffin-Siris","synonyms":["CSS"],"definition":"Es una discapacidad intelectual sindrómica de origen genético poco frecuente caracterizada por aplasia o hipoplasia de la falange distal o la uña del quinto dedo, retraso psicomotor, rasgos faciales toscos y otras manifestaciones clínicas variables."},"it":{"name":"Sindrome di Coffin-Siris","synonyms":["CSS"],"definition":"La sindrome di Coffin-Siris (CSS) è una disabilità intellettiva sindromica rara, di origine genetica, caratterizzata da aplasia o ipoplasia della falange distale o dell'unghia del quinto dito, ritardo dello sviluppo, aspetto grossolano del viso e altri segni clinici variabili."},"nl":{"name":"Syndroom van Coffin-Siris","synonyms":["CSS"],"definition":"Een zeldzame, genetische, syndromale, intellectuele beperking, gekenmerkt door aplasie of hypoplasie van distale falanx of nagel van vijfde vinger/teen, ontwikkelingsachterstand, grove gelaatskenmerken, en andere variabele klinische manifestaties."},"pt":{"name":"Síndrome Coffin-Siris","definition":"Uma perturbação do desenvolvimento intelectual sindrómica genética rara de amplo espectro fenotípico caracterizada por atraso no desenvolvimento e características clínicas variáveis &#8203;&#8203;que mais comummente, mas não consistentemente, incluem aplasia ou hipoplasia da falange distal ou unha do quinto dedo e características faciais grosseiras."},"pl":{"name":"Zespół Coffina i Siris","synonyms":["CSS"],"definition":"Rzadka, genetycznie uwarunkowana syndromiczna niepełnosprawność intelektualna o szerokim spektrum fenotypowym, która charakteryzuje się opóźnieniem rozwoju i zmiennymi cechami klinicznymi, które najczęściej, choć nie zawsze, obejmują brak lub niedorozwój dalszego paliczka lub paznokcia piątego palca oraz grube rysy twarzy."},"cs":{"name":"Coffinův-Sirisův syndrom","synonyms":["CSS","Coffin-Sirisův syndrom"]},"uk":{"name":"Синдром Коффіна-Сіріса","synonyms":["CSS"],"definition":"A rare genetic syndromic intellectual disability of broad phenotypic range characterized by developmental delay and variable clinical features which most commonly, but not consistently, include aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, and coarse facial features."},"zh":{"name":"Coffin-Siris综合征","synonyms":["CSS"]},"tr":{"name":"Coffin-Siris sendromu","synonyms":["CSS"]}},"xrefs":[{"source":"OMIM","code":"135900","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614607","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614608","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614609","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615866","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616938","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617808","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618027","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618362","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618506","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618779","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619325","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD27.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"734451870"},{"source":"MONDO","code":"0015452","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536436","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265338","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6124","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10083941","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":139393,"name":"Syndromic craniosynostosis","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"ARID2","name":"AT-rich interaction domain 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"28124119[PMID]","hgnc":"18037","ensembl":"ENSG00000189079","omim":"609539","loci":["12q12"]},{"symbol":"ARID1A","name":"AT-rich interaction domain 1A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) 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(<4-1%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002895","label":"Papillary thyroid carcinoma","frequency":"Very rare (<4-1%)","criteria":null}]}}