Prader-Willi syndrome

Information about:

Prader-Willi syndrome

(Prader-Willi syndrome, OMIM 176270)

by Karen Grønskov, Zeynep Tümer

Clinical characteristics:

Prader-Willi syndrome (PWS) is clinically characterized by severe hypotonia and feeding difficulties in early infancy, followed by excessive eating and development of morbid obesity in later infancy or early childhood. Cognitive impairment is seen in almost all individuals but varies in severity. A behavioral phenotype with temper tantrums, stubbornness, manipulative behavior and obsessive compulsive disorder is common. Hypogonadism is present in both males and females, and is seen as genital hypoplasia, incomplete pubertal development; and most individuals are infertile. Short stature, and small hands and feet are common features. Characteristic facial features, strabismus and scoliosis are often present. Clinical diagnostic criteria for PWS have been developed (Holm et al 1993; Gunay-Aygun et al 2001); however, confirmation of the clinical diagnosis with molecular genetic testing is required.

Genetic background:

Molecular mechanisms:

Molecular genetic testing:


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