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Sotos syndrome

ORPHA:821· ICD-10 Q87.3

Definition

A rare genetic overgrowth syndrome characterized by a typical facial appearance, overgrowth with macrocephaly and variable intellectual impairment.

Prevalence
1-9 / 100 000
Inheritance
Autosomal dominant, Autosomal recessive
Age of onset
Antenatal, Neonatal