Smith-Magenis Syndrome Foundation

The Smith-Magenis Syndrome Foundation is an international, self-help organization dedicated to providing information and support to individuals with Smith-Magenis syndrome and their families. Smith-Magenis syndrome is an extremely rare congenital disorder in which chromosomal material is absent from a certain portion of the short arm (p) of chromosome 17 (interstitial deletion 17p11.2) due to a spontaneous (de novo) genetic change early in embryonic development. Affected individuals may have a variety of associated symptoms and physical abnormalities including characteristic malformations of the head and facial area; abnormalities of the fingers and hands; speech delays and an unusually deep, hoarse voice; hearing loss; and/or moderate to severe mental retardation. In addition, many affected children may demonstrate self-destructive behavior. Established in 1992, the Smith-Magenis Syndrome Foundation UK is committed to disseminating information concerning Smith-Magenis syndrome to affected families and healthcare professionals; promoting awareness of the disorder in the United Kingdom; and providing networking opportunities to affected families to enable them to exchange information, support, and resources.