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Supporting Aussie Kids with Kabuki Syndrome


Address

PO Box 90
South Australia, 5097 Australia

Phone

0422 608 858

Email Address

petal@sakks.org

Description

The Supporting Aussie Kids with Kabuki Syndrome (SAKKS) is a support website whose mission is to support those affected by Kabuki syndrome. Participants share stories, photographs, and medical information about the syndrome. SAKKS has a forum and links to other genetic organizations. Kabuki syndrome is a rare disorder characterized by mental retardation, short stature, unusual facial features, abnormalities of the skeleton and unusual skin ridge patterns on the fingers, toes, palms of the hands and soles of the feet. The majority of the reported cases of this disorder have occurred for no apparent reason (sporadic). However, several cases have been reported to be inherited as an autosomal dominant trait.

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