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Prader-Willi syndrome

ORPHA:739· ICD-10 Q87.1

Definition

A rare genetic, neurodevelopmental syndrome characterized by hypothalamic-pituitary dysfunction with severe hypotonia and feeding deficits during the neonatal period followed by an excessive weight gain period with hyperphagia with a risk of severe obesity during childhood and adulthood, learning difficulties, deficits of social skills and behavioral problems or severe psychiatric problems.

Prevalence
1-9 / 100 000
Inheritance
Autosomal dominant, Not applicable
Age of onset
Antenatal, Neonatal