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White-Sutton syndrome

ORPHA:468678· ICD-10 Q87.0

Definition

A rare, genetic, syndromic intellectual disability disorder characterized by craniofacial features, global developmental delay, intellectual disability and variable neurobehavioral abnormalities (autism spectrum disorder, aggressiveness, and self-injury). Additional features include vision abnormalities and variable sensorineural hearing loss, as well as short stature, hypotonia and gastrointestinal manifestations (e.g. poor feeding, gastroesophageal reflux, constipation).

Prevalence
<1 / 1 000 000
Inheritance
Autosomal dominant
Age of onset
Antenatal, Infancy, Neonatal