Синдром Прадера-Віллі
ORPHA:739· ICD-10 Q87.1· Prader-Willi syndrome
Визначення(English summary)
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.
- Поширеність
- 1-9 / 100 000
- Успадкування
- Autosomal dominant, Not applicable
- Вік початку
- Antenatal, Neonatal