{"orpha":420179,"name":"Malan overgrowth syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Sotos syndrome 2"],"definition":"A rare multisystemic genetic disorder characterized by a characteristic facial features with macrocephaly, overgrowth in infancy, intellectual disability and behavioral problems including anxieties and aggressiveness.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-420179/","orphanet_url":"https://www.orpha.net/en/disease/detail/420179","names":{"fr":{"name":"Syndrome de croissance excessive de Malan","definition":"Maladie génétique multisystémique rare caractérisée par une dysmorphie faciale typique associée à une macrocéphalie, une croissance excessive pendant la petite enfance, une déficience intellectuelle et des troubles du comportement (dont anxiété et agressivité)."},"de":{"name":"Malan-Großwuchs-Syndrom","synonyms":["Malan-Syndrom","Sotos-Syndrom Typ 2"],"definition":"Eine seltene multisystemische genetische Störung, die durch charakteristische Gesichtszüge mit Makrozephalie, Überwuchs im Säuglingsalter, intellektuelle Beeinträchtigung und Verhaltensprobleme wie Ängstlichkeit und Aggressivität gekennzeichnet ist."},"es":{"name":"Síndrome de sobrecrecimiento de Malan","synonyms":["Síndrome de Sotos 2"],"definition":"Es un trastorno multisistémico de origen genético y poco frecuente caracterizado por rasgos faciales característicos con macrocefalia, sobrecrecimiento excesivo en la lactancia, discapacidad intelectual y trastornos de conducta, incluyendo ansiedad y agresividad."},"it":{"name":"Sindrome da iperaccrescimento di Malan","synonyms":["Sindrome di Sotos 2"],"definition":"Si tratta di una malattia genetica multisistemica rara, caratterizzata da dismorfismi facciali tipici con macrocefalia, iperaccrescimento nella prima infanzia, disabilità intellettiva e problemi comportamentali (ansia e aggressività)."},"nl":{"name":"Overgroeisyndroom van Malan","synonyms":["Syndroom van Sotos 2"],"definition":"Een zeldzame multisystemische genetische aandoening, gekenmerkt door typische gelaatskenmerken met macrocefalie, overgroei in de zuigelingentijd, intellectuele achterstand, en gedragsproblemen waaronder angsten en agressie."},"pt":{"name":"Síndrome de sobrecrescimento de Malan"},"pl":{"name":"Zespół nadmiernego wzrostu Malana","synonyms":["Zespół Sotosa 2"]},"cs":{"name":"Malanův syndrom s makrosomií","synonyms":["Malanové syndrom nadměrného vzrůstu"]},"uk":{"name":"Синдром надмірного росту Малану","synonyms":["Синдром Сотоса 2"],"definition":"A rare multisystemic genetic disorder characterized by a characteristic facial features with macrocephaly, overgrowth in infancy, intellectual disability and behavioral problems including anxieties and aggressiveness."},"zh":{"name":"Malan过度生长综合征","synonyms":["索托斯综合征2型"],"definition":"马兰过度生长综合症是一种多发性先天畸形综合症，其特征是中度生后过度生长，巨颅畸形，颅面畸形（包括高前额和前发际线，睑裂向下倾斜，下巴突出），发育迟缓和智力障碍。其他变量表现还包括异常行为，合并或不合并自闭症特征，以及眼部（例如斜视，眼球震颤，视盘苍白/发育不全），胃肠道（例如呕吐，慢性腹泻，便秘），肌肉骨骼（例如脊柱侧弯和漏斗胸），手/脚（例如，长而尖的手指）和中枢神经系统（例如轻度脑室扩大）异常。"},"tr":{"name":"Malan aşırı büyüme sendromu","synonyms":["Sotos sendromu 2"]}},"xrefs":[{"source":"OMIM","code":"614753","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":"attributed","validated":true},{"source":"MONDO","code":"0013885","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3553660","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":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]_22301465[PMID]_25118028[PMID]","hgnc":"7788","ensembl":"ENSG00000008441","omim":"164005","loci":["19p13.13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Unknown"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":20.0,"area":"Worldwide","status":"Validated","source":"25118028[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25118028[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-07-29","source":"26193383[PMID]_25118028[PMID]_20673863[PMID]","terms":[{"hpo":"HP:0005616","label":"Accelerated skeletal maturation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000348","label":"High forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002162","label":"Low posterior hairline","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000275","label":"Narrow face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001319","label":"Neonatal hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000300","label":"Oval face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011220","label":"Prominent forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003100","label":"Slender long bone","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000098","label":"Tall stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000490","label":"Deeply set eye","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002131","label":"Episodic ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000324","label":"Facial asymmetry","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002365","label":"Hypoplasia of the brainstem","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006956","label":"Lateral ventricle dilatation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002076","label":"Migraine","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007766","label":"Optic disc hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000543","label":"Optic disc pallor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001357","label":"Plagiocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000307","label":"Pointed chin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030799","label":"Scaphocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null}]}}