Kabuki Syndrome | Boston Children's Hospital (2024)

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.

• 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

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 is Kabuki syndrome diagnosed?

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.

What are the treatment options for Kabuki syndrome?

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

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.