Glossary

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Prader-Willi Syndrome

characterized by severe hypotonia (floppiness), poor suck and feeding problems in early infancy followed later in infancy by excessive eating that, if unchecked, leads gradually to huge obesity. All children with Prader-Willi syndrome (PWS) show developmental delay and mild-to-moderate mental retardation with multiple learning disabilities. Hypogonadism is present in both females (with small labia minora and clitoris) and males (with underdeveloped scrotum and nondescent of the testes). Short stature and small hands and feet are common. It is due to absence of the paternally contributed region on chromosome 15q11-q13.