Prader-Willi syndrome
Pronunciation: PRAH-der VIL-ee
Complex genetic disorder characterized by hyperphagia, obesity, short stature, hypogonadism, and developmental delays.
Full Definition
Prader-Willi syndrome (PWS) is a rare genetic disorder caused by loss of function of genes in the 15q11.2-q13 region through paternal deletion, maternal uniparental disomy, or imprinting defects. The syndrome is characterized by distinct phases: neonatal hypotonia and feeding difficulties, followed by hyperphagia and rapid weight gain typically beginning in early childhood. Additional features include short stature due to growth hormone deficiency, hypogonadotropic hypogonadism, characteristic facial features, developmental delays, and behavioral challenges including obsessive-compulsive traits. Management requires a multidisciplinary approach including growth hormone therapy, dietary management, and behavioral interventions.
Usage
Usage note: Include hyphen in Prader-Willi; specify genetic mechanism when known.
In Context
- "The patient's Prader-Willi syndrome required careful dietary monitoring and growth hormone replacement therapy." — Treatment plan
- "Genetic testing confirmed Prader-Willi syndrome with a paternal deletion of chromosome 15q11-q13." — Genetic test results