{"orpha":2898,"name":"X-linked intellectual disability-plagiocephaly syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Hyde Forster-McCarthy-Berry syndrome"],"definition":"A rare, syndromic intellectual disability characterized by severe intellectual deficit, brachycephaly, plagiocephaly, and prominent forehead in male patients. Females may display moderate intellectual deficit without craniofacial dysmorphism. There have been no further descriptions in the literature since 1992.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2898/","orphanet_url":"https://www.orpha.net/en/disease/detail/2898","names":{"fr":{"name":"Syndrome de déficience intellectuelle liée à l'X-plagiocéphalie","synonyms":["Syndrome de Hyde Forster-McCarthy-Berry"],"definition":"Déficience intellectuelle syndromique rare caractérisée par une déficience intellectuelle sévère, une brachycéphalie, une plagiocéphalie et un front proéminent chez les patients de sexe masculin. Les femmes peuvent présenter une déficience intellectuelle modérée, sans dysmorphie craniofaciale. Aucun cas n'a été décrit dans la littérature depuis 1992."},"de":{"name":"X-chromosomale Intelligenzminderung-Plagiozephalie-Syndrom","synonyms":["Hyde-Forster-McCarthy-Berry-Syndrom"],"definition":"Eine seltene, syndromale Form der Intelligenzminderung, die durch schwere Intelligenzminderung, Brachyzephalie, Plagiozephalie und eine vorstehende Stirn bei männlichen Patienten gekennzeichnet ist. Frauen können ein moderates intellektuelles Defizit ohne kraniofaziale Dysmorphie aufweisen. Seit 1992 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de discapacidad intelectual-plagiocefalia ligado al cromosoma X","synonyms":["Síndrome de Hyde Forster-McCarthy-Berry"],"definition":"Es una discapacidad intelectual sindrómica poco frecuente caracterizada por grave discapacidad intelectual, braquicefalia, plagiocefalia y frente prominente en los varones afectados. Las mujeres pueden mostrar discapacidad intelectual moderada sin dismorfia craneofacial. No ha habido más casos descritos en la literatura desde 1992."},"it":{"name":"Sindrome disabilità intellettiva legata all'X-plagiocefalia","synonyms":["Sindrome di Hyde Forster-McCarthy-Berry"],"definition":"È una disabilità intellettiva sindromica rara, caratterizzata, nei maschi, da deficit intellettivo grave, brachicefalia, plagiocefalia e fronte prominente. Le femmine possono presentare deficit intellettivo moderato, in assenza di dismorfismi craniofacciali. Non sono stati descritti nuovi casi dopo il 1992."},"nl":{"name":"X-gebonden intellectuele achterstand - plagiocefalie-syndroom","synonyms":["Syndroom van Hyde Forster-McCarthy-Berry"],"definition":"Een zeldzame, syndromale intellectuele beperking die gekarakteriseerd wordt door ernstige intellectuele achterstand, brachycefalie, plagiocefalie, en prominent voorhoofd bij mannelijke patiënten. Vrouwen vertonen mogelijk matige intellectuele beperking zonder craniofaciale dysmorfie. Sinds 1992 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de perturbação do desenvolvimento intelectual-plagiocefalia ligada ao X","synonyms":["Síndrome Hyde Forster-McCarthy-Berry"]},"pl":{"name":"Niepełnosprawność intelektualna sprzężona z płcią - plagiocefalia","synonyms":["Zespół Hyde Forster, McCarthy'ego i Berry"]},"cs":{"name":"Syndrom zahrnující X-vázanou mentální retardaci a plagiocefalii","synonyms":["Hyde Forsterův-McCarthyho-Berryho syndrom","Hyde Forster-McCarthy-Berryho syndrom"]},"uk":{"name":"Синдром Х-зчепленої інтелектуальної недостатності-плагіоцефалії","synonyms":["Синдром Гайда-Форстера-Маккарті-Бері"],"definition":"A rare, syndromic intellectual disability characterized by severe intellectual deficit, brachycephaly, plagiocephaly, and prominent forehead in male patients. Females may display moderate intellectual deficit without craniofacial dysmorphism. There have been no further descriptions in the literature since 1992."},"zh":{"name":"X连锁智力障碍-斜颈畸形综合征","synonyms":["Hyde Forster-McCarthy-Berry 综合征"]},"tr":{"name":"X'e bağlı zihinsel yetersizlik-plajiyosefali sendromu","synonyms":["Hyde Forster-McCarthy-Berry sendromu"]}},"xrefs":[{"source":"OMIM","code":"300064","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010237","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537512","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931516","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2765","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":[],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"1433236[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_1433236[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-10-18","source":"1433236[PMID]","terms":[{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001662","label":"Bradycardia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000280","label":"Coarse facial features","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001558","label":"Decreased fetal movement","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007281","label":"Developmental stagnation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002506","label":"Diffuse cerebral atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005469","label":"Flat occiput","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007000","label":"Morning myoclonic jerks","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001357","label":"Plagiocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011220","label":"Prominent forehead","frequency":"Frequent (79-30%)","criteria":null}]}}