PraderWillin

PraderWillin is not a recognized medical condition in major medical reference works. The term appears to be a misspelling or conflation of Prader-Willi syndrome (PWS).

Prader-Willi syndrome is a genetic disorder caused by the loss of function of paternal genes on chromosome 15q11-q13. It typically presents in infancy with hypotonia and feeding difficulties, followed by short stature, obesity due to hyperphagia, cognitive and behavioral difficulties, hypogonadism, and distinctive facial features. The prevalence is about 1 in 10,000 to 30,000 live births.

Genetic mechanisms include paternal deletions of 15q11-q13 (approximately 70%), maternal uniparental disomy (approximately 25%), and imprinting defects (a minority). Diagnosis is made by clinical assessment supported by genetic testing.

Management requires a multidisciplinary approach, including growth hormone therapy, meticulous dietary regulation, physical and occupational therapy, speech and language therapy, educational support, and monitoring for sleep apnea and scoliosis. Early intervention improves outcomes and quality of life.

History: The condition is named after Andrea Prader, Alexis Labhart, and Heinrich Willi, who first described it in 1956. Ongoing research focuses on appetite regulation, metabolic health, and behavioral support.