{"orpha":1514,"name":"Craniodigital-intellectual disability syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Scott craniodigital syndrome","Scott-Bryant-Graham syndrome"],"definition":"Craniodigital syndrome - intellectual deficit is characterised by syndactyly of the fingers and toes, characteristic facies (`startled' facial expression with a small pointed nose, micrognathia, long dark eyelashes and prominent eyebrows) and intellectual deficit.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1514/","orphanet_url":"https://www.orpha.net/en/disease/detail/1514","names":{"fr":{"name":"Syndrome cranio-digital-déficience intellectuelle","synonyms":["Syndrome cranio-digital de Scott","Syndrome de Scott-Bryant-Graham"],"definition":"Le syndrome craniodigital - déficit intellectuel est caractérisé par une syndactylie des doigts et des orteils, un faciès caractéristique (une expression de « surprise » avec un nez petit et pointu, une micrognathie, des cils longs et foncés et des sourcils larges) et un déficit intellectuel."},"de":{"name":"Kraniodigitales Syndrom mit Intelligenzminderung","synonyms":["Kraniodigitales Syndrom Scott","Scott-Bryant-Graham-Syndrom"],"definition":"Das Kraniodigitale Syndrom mit Intelligenzminderung ist gekennzeichnet durch Syndaktylie der Finger und Zehen, charakteristisches Gesicht ('schreckhafter ' Gesichtsausdruck, kleine spitze Nase, Mikrogenie, lange dunkle Wimpern und prominente Augenbrauen) und Intelligenzminderung."},"es":{"name":"Síndrome craneodigital-discapacidad intelectual","synonyms":["Síndrome de Scott-Bryant-Graham","Síndrome craneodigital de Scott"],"definition":"El síndrome craneodigital &#8211; déficit intelectual se caracteriza por: sindactilia de los dedos de manos y pies, facies característica (expresión facial 'asustada'' con una nariz pequeña y puntiaguda, micrognatia, pestañas largas y oscuras, y cejas espesas) y déficit intelectual."},"it":{"name":"Sindrome craniodigitale-disabilità intellettiva","synonyms":["Sindrome craniodigitale di Scott","Sindrome di Scott-Bryant-Graham"]},"nl":{"name":"Craniodigitaal - intellectuele achterstand-syndroom","synonyms":["Craniodigitaal syndroom van Scott","Syndroom van Scott-Bryant-Graham"],"definition":"Craniodigitaal - intellectuele achterstand-syndroom wordt gekenmerkt door syndactylie van vingers en tenen, typische gelaatskenmerken (geschrokken gelaatsuitdrukking met kleine en puntige neus, micrognathie, lange en donkere wimpers, en prominente wenkbrauwen), en intellectuele achterstand."},"pt":{"name":"Síndrome cranio-digital-perturbação do desenvolvimento intelectual","synonyms":["Síndrome Scott-Bryant-Graham","Síndrome craniodigital Scott"],"definition":"A síndrome craniodigital - atraso mental é caracterizada por sindactilia dos dedos das mãos e dos pés, face característica (expressão facial assustada com um nariz pequeno e pontiagudo, micrognatia, cílios longos e escuros, e sobrancelhas espessas) e défice intelectual."},"pl":{"name":"Zespół czaszkowo-palcowy - niepełnosprawność intelektualna","synonyms":["Zespół czaszkowo-palcowy Scotta","Zespół Scotta, Bryanta i Grahama"]},"cs":{"name":"Kraniodigitální syndrom s mentální retardací","synonyms":["Scottův kraniodigitální syndrom","Scottův-Bryantův-Grahamův syndrom","Scott-Bryant-Grahamův syndrom"]},"uk":{"name":"Краніодігітальний-інтелектуальної недостатності синдром","synonyms":["Краніодигітальний синдром Скотта","Синдром Скотта-Брайанта-Грема"],"definition":"Craniodigital syndrome - intellectual deficit is characterised by syndactyly of the fingers and toes, characteristic facies (`startled' facial expression with a small pointed nose, micrognathia, long dark eyelashes and prominent eyebrows) and intellectual deficit."},"zh":{"name":"颅-指-智力障碍综合征","synonyms":["Scott-Bryant-Graham综合征"]},"tr":{"name":"Kraniyodijital-zihinsel yetersizlik sendromu","synonyms":["Scott kraniyodijital sendromu","Scott-Bryant-Graham sendromu"]}},"xrefs":[{"source":"OMIM","code":"312860","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0015463","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537528","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1839311","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4776","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]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive","X-linked recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"17715284[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_17715284[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0007477","label":"Abnormal dermatoglyphics","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010720","label":"Abnormal hair pattern","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002230","label":"Generalized hirsutism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000527","label":"Long eyelashes","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000446","label":"Narrow nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000574","label":"Thick eyebrow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100874","label":"Thick hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003298","label":"Spina bifida occulta","frequency":"Occasional (29-5%)","criteria":null}]}}