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Kabuki Syndrome
Kabuki syndrome (KS) is a rare genetic disorder caused by 2 known genes, KMT2D and KDM6A.
KS symptoms and how serious they are can vary from 1 person to another. Some symptoms appear at birth. Others appear later in life. Symptoms of KS can include:
- Slower growth or development
- Trouble with learning and problem solving
- Problems with how bones, joints, or muscles grow or move
- Distinct facial features
KS can also affect the heart, kidneys, and intestines. People with KS are at risk for infections that keep coming back. They also have a higher risk of autoimmune disorders. In an autoimmune disorder, the immune system targets the body’s own healthy cells by mistake.
The exact number of people with KS is not known. Previous estimates state that it is diagnosed in about 1 out of every 32,000 people. It affects both males and females.
To learn more about Kabuki syndrome, visit organizations dedicated to Kabuki syndrome and other rare diseases.
Kabuki syndrome causes
Most cases of KS are caused by changes (called variants or mutations) in the KMT2D or KDM6A genes. But a genetic change is not found in every person with KS.
These genetic changes usually happen by chance. In some rare cases, a parent can pass KS to their child.
Kabuki syndrome care at St. Jude
St. Jude Children’s Research Hospital is working to better understand rare, catastrophic genetic neurological disorders in children. Our goal is to change how these disorders are treated. The Center for Experimental Neurotherapeutics (CENT) was started at St. Jude as part of the Pediatric Translational Neuroscience Initiative (PTNI) to focus on these neurological disorders.
Children with KS who are accepted at St. Jude may take part in clinical research or clinical trials, as they become available. These studies help scientists learn more about KS. They may also help scientists develop new treatments.
CENT Chromatin Clinic
KS is caused by changes in certain genes that help control chromatin. Chromatin is a substance in your cells that is made of DNA and proteins. It helps organize your genes, making it easier for them to do their job. Problems with chromatin can affect the brain, nervous system, and other organs.
Within the Center for Neurotherapeutics Clinic, the CENT Chromatin Clinic cares for children with KS and other genetic disorders that impact chromatin.
Patients who visit the CENT Chromatin Clinic will see experts in:
Patients in the CENT Chromatin Clinic will also be asked to join research studies. These studies help researchers understand how these disorders affect people over time. The goal is to find good ways to measure the success of a drug or other treatment for people with KS.
Learn more about the CENT Chromatin Clinic and its director, Brittany Simpson, MD.
Kabuki syndrome clinical research
Open clinical trials for kabuki syndrome
There are no open clinical trials for kabuki syndrome at this time.
Browse open clinical trials
Seeking treatment at St. Jude
Patients accepted to St. Jude must have a disease we treat and must be referred by a physician or other qualified medical professional. We accept most patients based on their ability to enroll in an open clinical trial.
Call: 1-888-226-4343 (toll-free) or 901-595-4055 (local) | Fax: 901-595-4011 | Email: referralinfo@stjude.org | 24-hour pager: 1-800-349-4334