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Kabuki syndrome is a rare genetic condition that affects many different parts of the body, and the range and severity of symptoms differ from person to person. Children with Kabuki syndrome often have distinct facial features, low muscle tone, intellectual disability, heart problems, skeletal abnormalities, growth delay and problems with feeding. Additionally, they may experience vision and hearing loss, seizures and frequent infections. Kabuki syndrome is caused by pathogenic variants, or genetic differences, in the KTM2D or KDM6A genes. Some symptoms of Kabuki syndrome are often present at birth, and additional symptoms manifest over time. Kabuki syndrome has a good prognosis when symptoms are managed well, but can cause life-shortening medical complications and often requires lifelong support from caretakers. Treatment is based on managing symptoms as they arise and is tailored to individual needs.
The latest on our research
We are jumpstarting our Kabuki syndrome program to accelerate research for this condition. We welcome all patients, caregivers and researchers interested in participating and spreading the word to the Kabuki syndrome community.