Kabuki syndrome


What gene change causes Kabuki syndrome?

A mutation, or change, in the genetic information of the KMT2D gene causes Kabuki syndrome. This gene is responsible for about 75% of the cases. Another gene recently identified (KDM6A) has been found in about 6-9% of individuals who do not have a KMT2D mutation. KMT2D makes a protein that helps to build a structure for storing genetic information. It also helps genes know when to turn on and turn off. This helps the body grow and develop normally. When there is an error in the KMT2D gene, the other genes cannot work correctly and development is abnormal. A genetic counselor can help to explain how genes work and their functions. To find a genetic counselor near you, visit the Find a Genetic Counselor tool on the National Society of Genetic Counselors website.

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Does anything make Kabuki syndrome worse?

Does anything make Kabuki syndrome worse?

Nothing is known to make Kabuki syndrome worse. However, you should talk to your doctor if you have concerns. The type of doctor that usually treats Kabuki syndrome is called a medical geneticist. To find a medical geneticist near you, visit the Genetic Services Search Engine on the American College of Medical Genetics website.

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