Kabuki Syndrome

What is Kabuki syndrome?

Kabuki syndrome is a rare congenital disorder, meaning that a child is born with the condition. Children with Kabuki syndrome usually have distinctive facial features, mild to moderate mental impairment and growth problems. Kabuki syndrome can also affect many other body systems, including the heart, intestines, kidneys, and skeleton.

Kabuki syndrome occurs in about one out of every 32,000 births. It affects males and females equally.

What are the symptoms of Kabuki syndrome?

The symptoms and features of Kabuki syndrome can vary widely from child to child. No child will have all of the symptoms.

What are the causes of Kabuki syndrome?

To date, researchers have identified mutations in two genes that cause Kabuki syndrome, KMT2D and KDM6A. Recent research has implicated additional genes. Most cases of Kabuki syndrome are caused by spontaneous gene mutations with no known family history. In rare cases, gene mutations may be inherited from a parent.

How we care for Kabuki syndrome

Children with Kabuki syndrome often need expert care from clinicians across a wide variety of specialties. At Boston Children’s Hospital, a dedicated Roya Kabuki Program brings together multiple specialists from Genetics and Genomics, the Benderson Family Heart Center, the Urology Department, the Endocrinology Department, the Developmental Medicine Center, the Department of Otolaryngology and Communication Enhancement, the Department of Ophthalmology, and other programs. Although no targeted therapies are yet available, our specialists work together to coordinate care and make sure your child gets the best possible support.

Research on Kabuki syndrome

The Roya Kabuki Program is conducting active research to advance our understanding of the underlying mechanism of Kabuki syndrome and to identify a therapy or therapies to improve the quality of life of children with this disease. Children who are seen in our multidisciplinary clinic will be given an opportunity to participate in the research program.