Prader-Willi Syndrome

Prader-Willi Syndrome (PWS, OMIM #176270) is a rare neurogenetic disorder often due to the absence of the paternal imprinted part of chromosome 7, either by deletion, maternal uniparental disomy, or imprinting defects. It features early onset hyperphagia that can lead to obesity without controlled caloric intake. Symptoms include infantile hypotonia, delayed motor milestones, cognitive impairments, behavioral issues like compulsive eating and temper tantrums, and short stature, alongside distinctive facial features like a narrow bifrontal diameter, almond-shaped eyes, and a thin upper lip. More info