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.

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

• Distinctive facial features, including arched eyebrows, elongated and wide-set eyes, thick eyelashes, flat nasal tip, and large ears
• Bone abnormalities including short fingers (especially the fifth finger), irregularly shaped vertebrae, and mild spina bifida or scoliosis
• Poor muscle tone (hypotonia)
• Very flexible joints
• Misaligned eyes (strabismus)
• Feeding problems
• Frequent infections
• Hearing problems or hearing loss
• Congenital heart defects, including coarctation of the aorta, ventricular septal defect, and atrial septal defect
• Endocrine problems, such as hypoglycemia (low blood sugar), growth hormone deficiency, hypothyroidism, or diabetes
• Kidney and urinary tract problems
• Small mouth or jaw, or cleft or high arched palate
• Dental problems, such as missing teeth, unusually shaped teeth, or misaligned teeth
• Early breast development or early puberty in girls
• Seizures
• Diarrhea or constipation

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.

While there are genetic tests for Kabuki syndrome, approximately 30 percent of children with Kabuki syndrome will not have a mutation in either gene known to cause the condition.

Doctors can also make a diagnosis based on a complete exam and certain facial features and skeletal and skin abnormalities.

Your child’s doctor may also order blood tests or chromosomal studies to rule out other conditions.

Treatment for Kabuki syndrome depends on the specific problems your child has. It can involve medication or surgery. The following services can also help:

• Early intervention (EI) can offer education and support services to children with developmental delays from birth to school age
• Physical and occupational therapy
• Speech therapy
• Sensory integration therapy can help children with sensory problems such as texture sensitivities

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.

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.