Kabuki syndrome is a rare genetic condition that affects multiple systems in the body. Symptoms vary from person to person and can range from mild to severe. There’s no cure. Treatment is aimed at managing symptoms and improving quality of life.
Kabuki syndrome can affect a person’s facial features, skeletal system, and other systems in the body. While the syndrome is congenital – meaning children are born with it – the features aren’t always present at birth. Signs develop over time and can be different from person to person.
Kabuki syndrome is a rare genetic disorder. Around 1 in every 32,000 babies born may be affected. While the syndrome was first recognized in Japan, there have been some 400-plus genetically verified cases reported on from across the world.
It was discovered by Japanese doctors in 1981 and was named “Kabuki” because the features look similar to those highlighted by makeup in Japanese theater (kabuki).
Kabuki syndrome affects several systems in the body. Here are some of the symptoms and features.
Some of the most common physical traits include wide-spaced eyes, a flattened nose, and a cleft palate or high palate.
Other facial features are:
- prominent/low-set ears
- wide palpebral fissures (openings between eyelids)
- everted lower eyelids (turned outward)
- notable eyebrow arch
- notable eyelashes
- lip pits (pit-like depressions in the lips)
- blue sclerae (blue tinge to whites of eyes)
Growth and skeletal system features
Musculoskeletal system issues are also common and include:
- short stature
- shorter than average fingers
- hypermobile joints
Children may also have delays in their growth after birth.
Children may have lower IQs or learning difficulties that usually range from mild to moderate. Some children may not have intellectual disabilities.
Other possible health effects may include:
- cardiovascular – narrowing of the aorta or atrial septal or ventricular septal defects
- hearing loss
- kidneys – renal dysplasia or hydronephrosis
- missing teeth
- immune system – idiopathic thrombocytopenic purpura
- undescended testicles
- recurrent ear infections
- precocious puberty
- weight gain during puberty
- sleep difficulties
- behavior issues
- anxiety disorder
- attention deficit hyperactivity disorder
- autism spectrum disorder
Kabuki syndrome is caused by a genetic mutation to either the KMT2D or KDM6A genes.
In some cases, Kabuki syndrome may run in families. When it’s passed down, it’s
Most people who have Kabuki syndrome, especially if it’s caused by changes to the KMT2D gene, have no family history. This means that the mutation happens at random.
Most of the time, Kabuki syndrome happens randomly. There are no specific risk factors in these cases or ways to prevent it from happening.
When it’s inherited, the main risk factor is having a parent with Kabuki syndrome whose DNA harbors the mutation. For example, people who harbor one copy of the mutated KMT2D gene have a 50% chance of passing it to a child, who then also develops Kabuki syndrome.
There’s no cure. Treatment focuses on relieving symptoms and preventing complications. Options include:
- Medications: antiepileptics, growth hormone, etc.
- Surgery: for heart defects, hearing loss, or reconstruction of abnormal physical features (such as prominent low-set ears, strabismus, and undescended testicles)
- physical therapy
- occupational therapy
- speech therapy
- Orthopedic treatments: such as surgery, to address joint hypermobility or scoliosis
- Ophthalmological: care to address eye and vision issues
Because Kabuki syndrome was discovered recently, there isn’t much information about the long-term outlook for those with the condition. Overall, people may have a typical life expectancy but may have health concerns – such as diabetes and cardiovascular disease – that could require ongoing medical care.
Diagnosis for Kabuki syndrome may be made in two ways:
- Genetic testing: Genetic testing is done through blood samples. If your child’s blood test doesn’t show a mutation to the KMT2D or KDM6A genes, a doctor or healthcare professional may perform additional testing.
- Physical exam: A physical exam allows a pediatrician to assess your child’s overall health, observe physical characteristics of the syndrome, and evaluate other signs.
Because Kabuki syndrome affects various body systems, you may need to see a team of healthcare professionals for care.
|Pediatrician||growth evaluation – height and weight||at every appointment|
|Ophthalmologist||vision assessment||every year|
|Audiologist||hearing assessment||every year|
|Orthopedist||evaluation for scoliosis||at every appointment until child is fully grown|
|Endocrinologist||thyroid function testing||every 2–3 years|
|Immunologist||complete blood count||every 2–3 years|
|Misc.||developmental and learning assessment||at each visit in the school years|
Your child may need additional specialists depending on their health issues.
These specialists may include:
Does Kabuki syndrome mostly affect people of Japanese descent?
No. The syndrome was first discovered in Japan, but it’s been observed in people of different countries and ethnicities.
How do I know if I carry Kabuki syndrome?
You may not necessarily know you have Kabuki syndrome, particularly if the symptoms are very mild. If you suspect you may carry the mutation, speak with a genetic counselor about genetic testing.
Where can I find more information and support for this condition?
The Kabuki Syndrome Foundation keeps a list of support groups in the United States and across the globe. For example, there’s a group in Wisconsin called Kabuki Karnival and the KS Network in the Netherlands.
Kabuki syndrome is a genetic condition that affects many systems in the body. People who have it may experience a wide range of symptoms.
Working closely with a medical and developmental support team will ensure your child gets the care they need to thrive.