Sotos syndrome
MeSH: D058495ORPHA: 821
Overview
autosomal recessive disease that occurs rarely and is characterized by excessive physical growth during the first 2 to 3 years of life
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with Sotos syndrome, sourced from HPO and Orphanet clinical annotations.
Agenesis of permanent teethAnxietyLarge handsCerebellar vermis hypoplasiaTremorFlexion contractureAbnormal heart morphologyVentricular septal defectAtrial septal defectPatent ductus arteriosusPes planusGastroesophageal refluxCerebral atrophyBilateral tonic-clonic seizureVentriculomegalyGeneralized non-motor (absence) seizureGeneralized myoclonic seizureEnlarged cisterna magnaModerate intellectual disabilityIncoordinationFocal impaired awareness seizureCavum septum pellucidumDyscalculiaKyphosisAortic aneurysmAplasia/Hypoplasia of the corpus callosumPedal edemaSevere intellectual disabilityInguinal herniaCryptorchidismHydrocele testisHypospadiasUreteral duplicationUreteropelvic junction obstructionRenal agenesisHydronephrosisDecreased fertilityConductive hearing impairmentStrabismusCataractHypermetropiaMyopiaNystagmusHypodontiaDelayed eruption of permanent teethPectus excavatumHypothyroidismHyperpigmentation of the skinHypopigmentation of the skinHemangiomaCraniosynostosisUmbilical herniaPhimosisTalipes equinovarusSmall nailNeonatal hypoglycemiaAganglionic megacolonNeoplasmNeuroblastomaHypercalcemiaHip contractureAbnormal vertebral morphologyTall statureCoarse facial featuresIncreased arm spanDolichocephalyNarrow faceLong faceHearing impairmentChronic otitis mediaAstigmatismDownslanted palpebral fissuresAtypical behaviorSeizureHypotoniaMild intellectual disabilityGlobal developmental delayConstipationScoliosisSparse anterior scalp hairAccelerated skeletal maturationProlonged neonatal jaundiceProminent foreheadFeeding difficultiesFlushingIncreased head circumferenceTall chinBrain imaging abnormalityVesicoureteral refluxAbnormality of the kidneyRenal insufficiencyAbnormality of the dentitionMacrocephalyAggressive behaviorAutistic behavior2-3 toe syndactylyBilateral camptodactylyAnkle flexion contractureAcute lymphoblastic leukemiaAttention deficit hyperactivity disorderAstrocytomaCholesteatomaCongenital posterior urethral valveSmall cell lung carcinomaSacrococcygeal teratomaPulmonary blebJoint hypermobility
Classification & Codes
MeSH Code
D058495Orphanet Code
ORPHA:821Sotos syndrome
| MeSH | D058495 |
| Orphanet | ORPHA:821 |
| Treatments | 0 drug(s) |
| Symptoms on record | 107 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO