Also known as: Kabuki makeup syndrome, KMS.
What is Kabuki syndrome?
Kabuki syndrome is a genetic disorder that causes a number of unusual facial features, as well as other body abnormalities. It derives its name from the Kabuki makeup worn in traditional Japanese theater, as many of the characteristics of the disease bear a resemblance to this appearance.
What causes Kabuki syndrome?
Kabuki syndrome is a genetic disorder autosomal dominant inheritance.
What are the symptoms of Kabuki syndrome?
Common symptoms of Kabuki syndrome include wide eyes with an upward slant, thick eyelashes, a blue tint to the eyes, a pushed-down nose and other unique facial features. Other symptoms include short stature, intellectual and speech problems congenital heart defects, feeding difficulties and other symptoms.
What are Kabuki syndrome care options?
There is no cure for Kabuki syndrome. Certain medications, therapies and surgeries can help with the management of the symptoms of the condition.
Reviewed by: Parul B Jayakar, MD
This page was last updated on: 6/22/2018 1:22:40 PM
From the Newsdesk
The Nicklaus Children's Hospital biobank and tissue repository is an essential resource for personalized medicine research efforts, enabling the study of both health and disease over time. The Biobank collects samples and health information from volunteers, regardless of health history. Once a participant becomes part of the Biobank, he or she contributes to ongoing health research. We partner with Sanford Health, a national leader on specimen storage, management and integration with participant health information.