{"orpha":561,"name":"Marshall-Smith syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome"],"definition":"A rare genetic multiple congenital anomalies syndrome characterized by abnormal bone maturation with skeletal anomalies, airway obstructions, failure to thrive, developmental delay, moderate to severe intellectual disability and characteristic facial features with macrocephaly, prominent forehead, shallow orbits, proptosis and blue sclerae.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-561/","orphanet_url":"https://www.orpha.net/en/disease/detail/561","names":{"fr":{"name":"Syndrome de Marshall-Smith","synonyms":["Syndrome de maturation osseuse accélérée-dysmorphie faciale-retard staturo-pondéral"],"definition":"Syndrome génétique rare d'anomalies congénitales multiples caractérisé par des anomalies de maturation osseuse et des anomalies squelettiques, des obstructions des voies respiratoires, un retard de croissance, un retard de développement, une déficience intellectuelle modérée à sévère et une dysmorphie faciale caractéristique avec une macrocéphalie, un front proéminent, des orbites peu profondes, une exophtalmie et des sclérotiques bleues."},"de":{"name":"Marshall-Smith-Syndrom","synonyms":["Beschleunigte Knochenalterung - Gesichtsanomalien - Gedeihstörungen"],"definition":"Das Marshall-Smith-Syndrom ist ein seltenes genetisches Syndrom mit multiplen kongenitalen Anomalien, das durch eine abnorme Knochenreifung mit Skelettanomalien, Atemwegsobstruktionen, Gedeihstörung, Entwicklungsverzögerung, mäßige bis schwere Intelligenzminderung und charakteristische Gesichtszüge mit Makrozephalie, prominenter Stirn, flachen Augenhöhlen, Proptosis und blauen Skleren gekennzeichnet ist."},"es":{"name":"Síndrome de Marshall-Smith","synonyms":["Síndrome de maduración esquelética acelerada-dismorfia facial-falta de crecimiento"],"definition":"Es un síndrome de múltiples malformaciones congénitas, de origen genético y poco frecuente, caracterizado por una alteración de la maduración ósea con anomalías esqueléticas, obstrucción de las vías respiratorias, fallo de medro, retraso psicomotor, discapacidad intelectual de moderada a grave y rasgos faciales característicos con macrocefalia, frente prominente, órbitas superficiales, proptosis y escleróticas azules."},"it":{"name":"Sindrome di Marshall-Smith","synonyms":["Maturazione ossea accelerata - facies peculiare - ritardo di crescita"],"definition":"Si tratta di una malattia genetica rara da anomalie congenite multiple, caratterizzata da anomala maturazione ossea associata ad alterazioni scheletriche, ostruzione delle vie aeree, ritardo della crescita e dello sviluppo, disabilità intellettiva moderata-grave e dismorfismi facciali caratteristici (macrocefalia, fronte prominente, orbite poco profonde, proptosi e sclere blu)."},"nl":{"name":"Syndroom van Marshall-Smith","synonyms":["Versnelde skeletmaturatie - faciale dysmorfie - groeifalen-syndroom"],"definition":"Een zeldzaam, genetisch syndroom met multipele congenitale anomalieën, gekarakteriseerd door abnormale botmaturatie met skeletanomalieën, obstructies van luchtwegen, niet-gedijen, ontwikkelingsachterstand, matige tot ernstige intellectuele achterstand, en typische gelaatskenmerken met macrocefalie, prominent voorhoofd, ondiepe oogkassen, proptosis, en blauwe sclerae."},"pt":{"name":"Síndrome Marshall-Smith","synonyms":["Síndrome de maturação óssea acelerada-dismorfia facial-má evolução estaturoponderal"]},"pl":{"name":"Zespół Marshalla i Smitha","synonyms":["Zespół zaawansowanego wieku kostnego, dysmorfii twarzy i niedoboru wzrostu i masy ciała"]},"cs":{"name":"Marshallův-Smithův syndrom","synonyms":["Syndrom zahrnující akcelerovaný kosterní vývoj, podivnou tvář a poruchu prospívání","Marshall-Smithův syndrom"]},"uk":{"name":"Синдром Маршалла-Сміта","synonyms":["Синдром прискореного дозрівання скелета - дизморфізму обличчя - неспроможності до розвитку"],"definition":"A rare genetic multiple congenital anomalies syndrome characterized by abnormal bone maturation with skeletal anomalies, airway obstructions, failure to thrive, developmental delay, moderate to severe intellectual disability and characteristic facial features with macrocephaly, prominent forehead, shallow orbits, proptosis and blue sclerae."},"zh":{"name":"Marshall-Smith综合征","synonyms":["加速期骨骼成熟-面部畸形-发育落后综合征"]},"tr":{"name":"Marshall-Smith sendromu","synonyms":["Hızlandırılmış iskelet olgunlaşması-fasiyal dismorfizm-gelişme bozukluğu sendromu"]}},"xrefs":[{"source":"OMIM","code":"602535","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2C","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"417951600"},{"source":"MONDO","code":"0011244","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536026","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265211","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6985","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":498448,"name":"Overgrowth or tall stature syndrome with skeletal involvement","classifications":[147,156,199]},{"orpha":93460,"name":"Overgrowth syndrome","classifications":[147,156]}],"children":[],"genes":[{"symbol":"NFIX","name":"nuclear factor I X","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20673863[PMID]","hgnc":"7788","ensembl":"ENSG00000008441","omim":"164005","loci":["19p13.13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":74.0,"area":"Worldwide","status":"Validated","source":"34925682[PMID]_ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-12-06","source":null,"terms":[{"hpo":"HP:0005616","label":"Accelerated skeletal maturation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006487","label":"Bowing of the long bones","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011220","label":"Prominent forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000278","label":"Retrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003100","label":"Slender long bone","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000963","label":"Thin skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000592","label":"Blue sclerae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000978","label":"Bruising susceptibility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000405","label":"Conductive hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002230","label":"Generalized hirsutism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002659","label":"Increased susceptibility to fractures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000194","label":"Open mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010808","label":"Protruding tongue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004349","label":"Reduced bone mineral density","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001321","label":"Cerebellar hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000453","label":"Choanal atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001363","label":"Craniosynostosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000212","label":"Gingival overgrowth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Occasional (29-5%)","criteria":null}]}}