{"orpha":821,"name":"Sotos syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Cerebral gigantism"],"definition":"A rare genetic overgrowth syndrome characterized by a typical facial appearance, overgrowth with macrocephaly and variable intellectual impairment.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-821/","orphanet_url":"https://www.orpha.net/en/disease/detail/821","names":{"fr":{"name":"Syndrome de Sotos","synonyms":["Gigantisme cérébral"],"definition":"Syndrome de croissance excessive d'origine génétique caractérisé par une dysmorphie faciale typique, une croissance excessive associée à une macrocéphalie et une déficience intellectuelle de degré variable."},"de":{"name":"Sotos-Syndrom","synonyms":["Gigantismus, zerebraler"],"definition":"Ein seltenes genetisches Großwuchs-Syndrom, das durch charakteristische Gesichtsform, Überwuchs mit Makrozephalie und variable intellektuelle Beeinträchtigung gekennzeichnet ist."},"es":{"name":"Síndrome de Sotos","synonyms":["Gigantismo cerebral"],"definition":"Es un síndrome poco frecuente de sobrecrecimiento de origen genético caracterizado por una apariencia facial típica, sobrecrecimiento con macrocefalia y discapacidad intelectual variable."},"it":{"name":"Sindrome di Sotos","synonyms":["Gigantismo cerebrale"],"definition":"La sindrome di Sotos è una malattia genetica rara da iperaccrescimento, caratterizzata da facies tipica, iperaccrescimento associato a macrocefalia e deficit intellettivo variabile."},"nl":{"name":"Syndroom van Sotos","synonyms":["Cerebraal gigantisme"],"definition":"Een zeldzaam, genetisch overgroeisyndroom, gekenmerkt door een typisch voorkomen van aangezicht, overgroei met macrocefalie, en variabele intellectuele achterstand."},"pt":{"name":"Síndrome Sotos","synonyms":["Gigantismo cerebral"],"definition":"Síndrome de sobrecrescimento, rara e genética, que apresenta características faciais típicas ou distintivas, sobrecrescimento com macrocefalia e perturbação do desenvolvimento intelectual variável."},"pl":{"name":"Zespół Sotosa","synonyms":["Gigantyzm mózgowy"],"definition":"Rzadki, genetycznie uwarunkowany zespół przerostowy, który charakteryzuje się typowym wyglądem twarzy, przerostem z makrocefalią i zmiennym upośledzeniem umysłowym."},"cs":{"name":"Sotosův syndrom","synonyms":["Cerebrální gigantismus"]},"uk":{"name":"Синдром Сотоса","synonyms":["Церебральний гігантизм"],"definition":"A rare genetic overgrowth syndrome characterized by a typical facial appearance, overgrowth with macrocephaly and variable intellectual impairment."},"zh":{"name":"Sotos综合征","synonyms":["脑性巨人症"]},"tr":{"name":"Sotos sendromu","synonyms":["Serebral jigantizm"]}},"xrefs":[{"source":"OMIM","code":"117550","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617169","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618677","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.3","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"LD2C","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1887392960"},{"source":"MONDO","code":"0019349","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D058495","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0175695","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10091","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10064387","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":238613,"name":"OBSOLETE: Beckwith-Wiedemann syndrome due to NSD1 mutation","status":"inactive"}],"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]},{"orpha":262038,"name":"Partial deletion of the long arm of chromosome 5 syndrome","classifications":[147,156]},{"orpha":183422,"name":"Polymalformative genetic syndrome with increased risk of developing cancer","classifications":[156,202]},{"orpha":98641,"name":"Syndromic cataract","classifications":[189]},{"orpha":522548,"name":"Syndromic genetic cataract","classifications":[156]}],"children":[],"genes":[{"symbol":"APC2","name":"APC regulator of Wnt signaling pathway 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"25753423[PMID]_31585108[PMID]","hgnc":"24036","ensembl":"ENSG00000115266","omim":"612034","loci":["19p13.3"]},{"symbol":"NSD1","name":"nuclear receptor binding SET domain protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20301652[PMID]","hgnc":"14234","ensembl":"ENSG00000165671","omim":"606681","loci":["5q35.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":7.1,"area":"Worldwide","status":"Not yet validated","source":"20301652[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"20301652[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.5,"area":"Europe","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2005-2012[OTHER]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Europe","status":"Validated","source":"ORPHANET_EUROCAT European surveillance of congenital anomalies 2005-2010[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-03-26","source":"20301652[PMID]_31479583[PMID]","terms":[{"hpo":"HP:0000280","label":"Coarse facial features","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012771","label":"Increased arm span","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000098","label":"Tall stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005616","label":"Accelerated skeletal maturation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000483","label":"Astigmatism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0410263","label":"Brain imaging abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000389","label":"Chronic otitis media","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000268","label":"Dolichocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031284","label":"Flushing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040194","label":"Increased head circumference","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000276","label":"Long face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000275","label":"Narrow face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006579","label":"Prolonged neonatal jaundice","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011220","label":"Prominent forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004768","label":"Sparse anterior scalp hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0400000","label":"Tall chin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000077","label":"Abnormality of the kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000718","label":"Aggressive behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004942","label":"Aortic aneurysm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007370","label":"Aplasia/Hypoplasia of the corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002069","label":"Bilateral tonic-clonic seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002389","label":"Cavum septum pellucidum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001320","label":"Cerebellar vermis hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002059","label":"Cerebral atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002442","label":"Dyscalculia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002280","label":"Enlarged cisterna magna","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001371","label":"Flexion contracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002384","label":"Focal impaired awareness seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002123","label":"Generalized myoclonic seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002121","label":"Generalized non-motor (absence) seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001176","label":"Large hands","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010741","label":"Pedal edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001763","label":"Pes planus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002370","label":"Poor coordination","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000076","label":"Vesicoureteral reflux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004691","label":"2-3 toe syndactyly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003468","label":"Abnormal vertebral morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0006721","label":"Acute lymphoblastic leukemia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002251","label":"Aganglionic megacolon","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0006349","label":"Agenesis of permanent teeth","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0006466","label":"Ankle flexion contracture","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0009592","label":"Astrocytoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005617","label":"Bilateral camptodactyly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0009797","label":"Cholesteatoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000405","label":"Conductive hearing impairment","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0010957","label":"Congenital posterior urethral valve","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001363","label":"Craniosynostosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000144","label":"Decreased fertility","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000696","label":"Delayed eruption of permanent teeth","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001028","label":"Hemangioma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003273","label":"Hip contracture","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000034","label":"Hydrocele testis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003072","label":"Hypercalcemia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000540","label":"Hypermetropia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000953","label":"Hyperpigmentation of the skin","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000668","label":"Hypodontia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001010","label":"Hypopigmentation of the skin","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000821","label":"Hypothyroidism","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001998","label":"Neonatal hypoglycemia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002664","label":"Neoplasm","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003006","label":"Neuroblastoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001741","label":"Phimosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0032447","label":"Pulmonary bleb","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000104","label":"Renal agenesis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030736","label":"Sacrococcygeal teratoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030357","label":"Small cell lung carcinoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001792","label":"Small nail","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000073","label":"Ureteral duplication","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000074","label":"Ureteropelvic junction obstruction","frequency":"Very rare (<4-1%)","criteria":null}]}}