{"orpha":488168,"name":"Microcephaly-congenital cataract-psoriasiform dermatitis syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["SMO deficiency","Sterol-C4-methyl oxidase deficiency"],"definition":"A rare sterol biosynthesis disorder characterized by microcephaly, bilateral congenital cataract, mild developmental delay, growth delay with short stature, psoriasiform dermatitis of variable severity, and immune dysregulation. Behavioral disorder, joint contractures, and arthralgia have also been described.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-488168/","orphanet_url":"https://www.orpha.net/en/disease/detail/488168","names":{"fr":{"name":"Syndrome de microcéphalie-cataracte congénitale-dermatite psoriasiforme","synonyms":["Déficit en C4-méthyl stérol oxydase","Déficit en SMO"],"definition":"Anomalie rare de la biosynthèse des stérols caractérisée par une microcéphalie, une cataracte congénitale bilatérale, un léger retard de développement, un retard de croissance avec une petite taille, une dermatite psoriasiforme de gravité variable et une dysrégulation immunitaire. Des troubles du comportement, des contractures articulaires ainsi qu'une arthralgie ont également été décrits."},"de":{"name":"Mikrozephalie-kongenitale Katarakt-psoriasiforme Dermatose-Syndrom","synonyms":["SC4MOL-Mangel","SMO-Mangel"],"definition":"Eine seltene Störung der Sterinbiosynthese, die durch Mikrozephalie, beidseitigen kongenitalen Katarakt, leichte Entwicklungsverzögerung, Wachstumsverzögerung mit Kleinwuchs, psoriasiforme Dermatitis unterschiedlichen Schweregrades und Immundysregulation gekennzeichnet ist. Es wurden auch Verhaltensstörungen, Gelenkkontrakturen und Arthralgien beschrieben."},"es":{"name":"Síndrome de microcefalia-catarata congénita-dermatitis psoriasiforme","synonyms":["Deficiencia de SMO","Deficiencia de esterol-C4-metil oxidasa"],"definition":"Es un trastorno poco frecuente de la biosíntesis de esteroles caracterizado por microcefalia, catarata congénita bilateral, leve retraso del desarrollo psicomotor, retraso del crecimiento con talla baja, dermatitis psoriasiforme de gravedad variable y disregulación del sistema inmunitario. También se han descrito trastornos de la conducta, contracturas articulares y artralgia."},"it":{"name":"Sindrome microcefalia - cataratta congenita - dermatite psoriasiforme","definition":"Si tratta di una malattia rara della biosintesi degli steroli, caratterizzata da microcefalia, cataratta congenita bilaterale, lieve ritardo dello sviluppo, ritardo della crescita con bassa statura, dermatite psoriasiforme di gravità variabile e disregolazione immunitaria. I pazienti possono presentare anche disturbi comportamentali, contratture articolari e artralgia."},"nl":{"name":"Microcefalie - congenitaal cataract - psoriasiforme dermatitis-syndroom","synonyms":["SMO-deficiëntie","Sterol-C4-methyloxidasedeficiëntie"],"definition":"Een zeldzame aandoening van sterolbiosynthese, gekarakteriseerd door microcefalie, bilateraal congenitaal cataract, milde ontwikkelingsachterstand, groeiachterstand met kleine gestalte, psoriasiforme dermatitis met variabele gradaties van ernst, en immuundisregulatie. Gedragsstoornissen, gewrichtscontracturen en artralgie werden ook reeds beschreven."},"pt":{"name":"Microcefalia-catarata-síndrome de dermatite psoriasiforme congénita"},"pl":{"name":"Zespół małogłowia, wrodzonej zaćmy i łuszczycowego zapalenia skóry","synonyms":["Niedobór sterol-C4-metylo oksydazy"]},"cs":{"name":"Syndrom zahrnující mikrocefalii, vrozenou kataraktu a psoriaziformní dermatitidu","synonyms":["Deficit SMO","Deficit sterol-C4-metyl oxidázy"]},"uk":{"name":"Синдром мікроцефалії-вродженої катаракти-псоріазоподібного дерматиту","synonyms":["Дефіцит SMO","Дефіцит стерол-С4-метилоксидази"],"definition":"A rare sterol biosynthesis disorder characterized by microcephaly, bilateral congenital cataract, mild developmental delay, growth delay with short stature, psoriasiform dermatitis of variable severity, and immune dysregulation. Behavioral disorder, joint contractures, and arthralgia have also been described."},"zh":{"name":"小头畸形-先天性白内障-银屑病性皮炎综合征","synonyms":["甾醇-C4-甲基氧化酶缺乏症"],"definition":"一种罕见的固醇生物合成障碍，其特征是小头畸形、双侧先天性白内障、轻度发育迟缓、发育迟缓伴有身材矮小、严重程度不一的银屑病样皮炎和免疫功能失调。一些还有行为障碍、关节挛缩和关节痛。"},"tr":{"name":"Mikrosefali-doğumsal katarakt-psoriasiform dermatit sendromu","synonyms":["SMO eksikliği","Sterol-C4-metil oksidaz eksikliği"]}},"xrefs":[{"source":"OMIM","code":"616834","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E88.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C52.1Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0014793","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5567510","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":183426,"name":"Genetic epidermal disorder","classifications":[156]},{"orpha":79359,"name":"Other epidermal disorder","classifications":[187]},{"orpha":79195,"name":"Sterol biosynthesis disorder","classifications":[147,150,156]},{"orpha":98641,"name":"Syndromic cataract","classifications":[189]},{"orpha":522548,"name":"Syndromic genetic cataract","classifications":[156]}],"children":[],"genes":[{"symbol":"MSMO1","name":"methylsterol monooxygenase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21285510[PMID]_24144731[PMID]_23042573[PMID]","hgnc":"10545","ensembl":"ENSG00000052802","omim":"607545","loci":["4q32.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"28673550[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_28673550[PMID]"}],"phenotypes":null}