{"orpha":85287,"name":"X-linked intellectual disability, Siderius type","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"X-linked intellectual disability, Siderius type is characterised by mild to borderline intellectual deficit associated with cleft lip/palate. Preaxial polydactyly, large hands and cryptorchidism are sometimes present. The syndrome has been described in seven boys from two families. Transmission is X-linked and the syndrome is caused by mutations in the <i>PHF8</i> gene, localised to the p11.21 region of the X chromosome.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-85287/","orphanet_url":"https://www.orpha.net/en/disease/detail/85287","names":{"fr":{"name":"Déficience intellectuelle liée à l'X type Siderius","definition":"La déficience intellectuelle liée à l'X type Siderius se caractérise par un déficit intellectuel très modéré associé à une fente labio-palatine. Une polydactylie préaxiale, des mains larges et une cryptorchidie sont parfois présentes. De transmission liée à l'X, elle a été décrite chez sept garçons issus de deux familles différentes. Ce syndrome est dû à une mutation du gène <i>PHF8</i> localisé dans la région p11.21 du chromosome X."},"de":{"name":"Intelligenzminderung, X-chromosomale, Typ Siderius","definition":"Dieses Syndrom ist gekennzeichnet durch leichtes bis grenzwertiges intellektuelles Defizit mit Lippen-Kiefer-Gaumenspalte. Nicht immer beobachtete Symptome sind präaxiale Polydaktylie, große Hände und Kryptorchismus."},"es":{"name":"Discapacidad intelectual ligada al cromosoma X tipo Siderius","definition":"Es un trastorno caracterizado por un déficit intelectual de leve a limítrofe asociado a fisura labiopalatina. Algunos pacientes presentan polidactilia preaxial, manos grandes y criptorquidia. El síndrome se ha descrito en siete niños de dos familias. La transmisión está ligada al cromosoma X y el síndrome está causado por mutaciones en el gen <i>PHF8</i>, localizado en la región p11.21 del cromosoma X."},"it":{"name":"Disabilità intellettiva legata all'X, tipo Siderius"},"nl":{"name":"X-gebonden intellectuele achterstand, Siderius-type","definition":"Een aandoening, gekenmerkt door milde tot marginale intellectuele achterstand geassocieerd met gespleten lip/gehemelte. Preaxiale polydactylie, grote handen, en cryptorchisme zijn soms aanwezig. Het syndroom werd beschreven bij zeven jongens uit twee families. Transmissie gebeurt X-gebonden, en het syndroom wordt veroorzaakt door mutaties in het gen <i>PHF8</i>, gesitueerd in de regio p11.21 van het X-chromosoom."},"pt":{"name":"Perturbação do desenvolvimento intelectual ligada ao X, tipo Siderius"},"pl":{"name":"Niepełnosprawność intelektualna typu Siderius sprzężona z chromosomem X"},"cs":{"name":"X-vázaná mentální retardace, Sideriusové typ"},"uk":{"name":"Х-зчеплена розумова відсталість, тип Сідеріус","definition":"X-linked intellectual disability, Siderius type is characterised by mild to borderline intellectual deficit associated with cleft lip/palate. Preaxial polydactyly, large hands and cryptorchidism are sometimes present. The syndrome has been described in seven boys from two families. Transmission is X-linked and the syndrome is caused by mutations in the <i>PHF8</i> gene, localised to the p11.21 region of the X chromosome."},"zh":{"name":"X连锁智力障碍，Siderius型"},"tr":{"name":"X'e bağlı zihinsel yetersizlik, Siderius tipi"}},"xrefs":[{"source":"OMIM","code":"300263","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD90","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010286","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537333","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4305078","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9704","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10082377","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":[{"symbol":"PHF8","name":"PHD finger protein 8","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17661819[PMID]","hgnc":"20672","ensembl":"ENSG00000172943","omim":"300560","loci":["Xp11.22"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"16199551[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_16199551[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"10398231[PMID]","terms":[{"hpo":"HP:0000455","label":"Broad nasal tip","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000204","label":"Cleft upper lip","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001176","label":"Large hands","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000276","label":"Long face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000202","label":"Orofacial cleft","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008734","label":"Decreased testicular size","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002162","label":"Low posterior hairline","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001177","label":"Preaxial hand polydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000664","label":"Synophrys","frequency":"Occasional (29-5%)","criteria":null}]}}