Kabuki Syndrome | Symptoms & Causes
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.
Kabuki Syndrome | Diagnosis & Treatments
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.
Kabuki Syndrome | Research & Innovation
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.
Kabuki Syndrome | Programs & Services
Programs
Boston Adult Congenital Heart (BACH) and Pulmonary Hypertension
Program
The Boston Adult Congenital Heart (BACH) and Pulmonary Hypertension Program offers a full range of inpatient and outpatient clinical services to adults with congenital heart disease and pulmonary hypertension.
Learn more about Boston Adult Congenital Heart (BACH) and Pulmonary Hypertension
Cardiac Neurodevelopmental Program
Program
The Cardiac Neurodevelopmental Program uses a compassionate, family centered approach to diagnose and treat neurodevelopmental disorders.
Learn more about Cardiac Neurodevelopmental Program
Center for Cardiovascular Genetics
Program
The Center for Cardiovascular Genetics provides innovative clinical care, education, and research.
Learn more about Center for Cardiovascular Genetics
Comprehensive Pediatric Ophthalmology Service
Program
The Comprehensive Pediatric Ophthalmology Service is the largest group of full-time practicing pediatric ophthalmologists in the United States.
Learn more about Comprehensive Pediatric Ophthalmology Service
Roya Kabuki Program
Program
The Roya Kabuki Program is a multidisciplinary, patient-centered initiative for children and adults with known or suspected Kabuki syndrome.
Learn more about Roya Kabuki Program
Departments
Cardiac Imaging
Department
The Division of Cardiac Imaging serves children and adults with congenital heart disease.
Learn more about Cardiac Imaging
Cardiology
Department
The Department of Cardiology at the Benderson Family Heart Center is the largest pediatric cardiology center in the United States and one of the most specialized in the world.
Learn more about Cardiology
Neurosurgery
Department
The Department of Neurosurgery serves children with disorders of the brain, spine, and nervous system.
Learn more about Neurosurgery
Ophthalmology
Department
The Department of Ophthalmology offers the latest and best in diagnostics and care for children with vision problems.
Learn more about Ophthalmology
Centers
Benderson Family Heart Center
Center
The Benderson Family Heart Center treats the full spectrum of heart disorders, including the rarest and most complex congenital heart defects.
Learn more about Benderson Family Heart Center