{"orpha":565858,"name":"Craniosynostosis-microretrognathia-severe intellectual disability syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, moderate to severe intellectual disability, dysmorphic features including craniosynostosis, micro-/retrognathia, cleft palate, and brachydactyly, and short stature. Seizures, skeletal anomalies (such as arthrogryposis, gracile bones, and pathological fractures), and renal abnormalities have also been described. Cerebral MRI may show periventricular white matter changes and ventriculomegaly.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-565858/","orphanet_url":"https://www.orpha.net/en/disease/detail/565858","names":{"fr":{"name":"Syndrome de craniosynostose-microrétrognathie-déficience intellectuelle sévère","definition":"Anomalies congénitales multiples/syndrome dysmorphique rare d'origine génétique caractérisé par un retard de développement, une déficience intellectuelle modérée à sévère, des traits dysmorphiques, à savoir craniosynostose, micro-rétrognathie, fente palatine, brachydactylie et petite taille. Des convulsions, des anomalies squelettiques (arthrogrypose, os graciles et fractures pathologiques) et des anomalies rénales ont également été décrites. L'IRM cérébrale peut mettre en évidence des modifications périventriculaires de la substance blanche et une ventriculomégalie."},"de":{"name":"Kraniosynostose-Mikroretrognathie-schwere Intelligenzminderung-Syndrom","definition":"Ein genetisch bedingtes Dysmorphie-Syndrom, das durch Entwicklungsverzögerung, mäßige bis schwere Intelligenzminderung, dysmorphe Merkmale wie Kraniosynostose, Mikro-/Retrognathie, Gaumenspalte und Brachydaktylie sowie Kleinwuchs gekennzeichnet ist. Krampfanfälle, Skelettanomalien (wie Arthrogrypose, grazile Knochen und pathologische Frakturen) und Nierenanomalien wurden ebenfalls beschrieben. Die zerebrale MRT kann periventrikuläre Veränderungen der weißen Substanz und Ventrikulomegalie zeigen."},"es":{"name":"Síndrome de craneosinostosis-microrretrognatia-discapacidad intelectual grave","definition":"Es un síndrome dismórfico/ de anomalías congénitas múltiples de origen genético poco frecuente caracterizado por retraso del desarrollo, discapacidad intelectual de moderada a grave, características dismórficas que incluyen craneosinostosis, micro/retrognatia, paladar hendido y braquidactilia, y talla baja. También se han descrito crisis epilépticas, anomalías esqueléticas (como artrogriposis, huesos gráciles y fracturas patológicas) y anomalías renales. La RM cerebral puede mostrar cambios en la sustancia blanca periventricular y ventriculomegalia."},"it":{"name":"Sindrome da craniosinostosi, microretrognazia, disabilità intellettiva grave"},"nl":{"name":"Craniosynostose - microretrognathie - ernstige intellectuele achterstand-syndroom","definition":"Een zeldzaam genetisch syndroom met multipele congenitale anomalieën/dysmorfie, gekenmerkt door ontwikkelingsachterstand, matige tot ernstige intellectuele achterstand, dysmorfe kenmerken waaronder craniosynostose, micro-/retrognathie, gespleten gehemelte en brachydactylie, en kleine gestalte. Insulten, skeletanomalieën (zoals artrogrypose, dunne botten, en pathologische fracturen), en nierafwijkingen werden ook reeds beschreven. MRI van hersenen toont mogelijk verandering van periventriculaire witte stof en ventriculomegalie."},"pt":{"name":"Síndrome de craniossinostose-microrretrognatia-perturbação do desenvolvimento intelectual grave","definition":"Síndrome dismórfica/anomalias congénitas múltiplas genéticas raras caracterizada por atraso no desenvolvimento, incapacidade intelectual moderada a grave, características dismórficas, incluindo craniossinostose, micro/retrognatia, fenda palatina, braquidactilia, e baixa estatura. Convulsões, anomalias esqueléticas (como artrogripose, ossos gráceis e fraturas patológicas) e anomalias renais também foram descritas. A ressonância magnética cerebral pode evidenciar alterações na substância branca periventricular e ventriculomegalia."},"pl":{"name":"Zespół kraniosynostozy, mikroretrognacji i ciężkiej niepełnosprawności intelektualnej","definition":"Rzadko występujący, genetycznie uwarunkowany zespół wad wrodzonych/zespół dysmorficzny, charakteryzujący się opóźnieniem rozwoju, umiarkowaną lub ciężką niepełnosprawnością intelektualną, cechami dysmorfii, w tym kraniosynostozą, mikro-/retrognacją, rozszczepem podniebienia i brachydaktylią oraz niskim wzrostem. Opisywano również drgawki, wady układu kostnego (takie jak artrogrypoza, cienkie kości i złamania patologiczne) oraz wady nerek. MRI mózgu może pokazać zmiany w istocie białej okołokomorowej i powiększenie komór."},"cs":{"name":"Syndrom zahrnující kraniosynostózu, mikroretrognatii a těžké mentální postižení"},"uk":{"name":"Синдром краніосиностозу-мікроретрогнатії-тяжкої інтелектуальної недостатності","definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, moderate to severe intellectual disability, dysmorphic features including craniosynostosis, micro-/retrognathia, cleft palate, and brachydactyly, and short stature. Seizures, skeletal anomalies (such as arthrogryposis, gracile bones, and pathological fractures), and renal abnormalities have also been described. Cerebral MRI may show periventricular white matter changes and ventriculomegaly."},"zh":{"name":"颅缝早闭-下颌微缩-严重智力障碍综合征"},"tr":{"name":"Kraniosinostozis-mikroretrognati-ağır zihinsel yetersizlik sendromu"}},"xrefs":[{"source":"OMIM","code":"618265","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0032642","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5780021","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":166472,"name":"Monogenic disease with epilepsy","classifications":[156,181]},{"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":"PPP3CA","name":"protein phosphatase 3 catalytic subunit alpha","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29432562[PMID]_28942967[PMID]_30254215[PMID]_30455226[PMID]","hgnc":"9314","ensembl":"ENSG00000138814","omim":"114105","loci":["4q24"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"29432562[PMID]_30254215[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_29432562[PMID]_30254215[PMID]"}],"phenotypes":null}