Living with Kabuki syndrome
A genetic condition with distinctive facial features, developmental delay, and possible heart, ear, and skeletal differences.
Understanding Kabuki syndrome
Facial features include arched eyebrows, long eyelashes, long eyelid openings, and a flat nose tip. People may have mild to severe developmental delay and intellectual disability, and may have seizures, a small head, or low muscle tone. Other possible features are short stature, scoliosis, cleft palate, dental problems, heart differences, frequent ear infections, hearing loss, and early puberty. It can be noticed during pregnancy, at birth, or in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Distinctive facial features
- Developmental delay and intellectual disability
- Heart differences
- Cleft palate or lip
- Frequent ear infections and hearing loss
- Small head (microcephaly)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include bone and joint specialists, brain and nervous system specialists, digestive system specialists and eye disease specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); Digestive system specialists (gastroenterologists); Eye disease specialists (ophthalmologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with All Things Kabuki and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in genes (also called variants) cause this condition. It is autosomal dominant, meaning one changed copy of the gene is enough to cause it.
Also known as: kabuki make up syndrome; kabuki make-up syndrome; kms; niikawa-kuroki syndrome
Patient organizations
- All Things KabukiKabuki syndrome · United States
- Congenital Hyperinsulinism InternationalKabuki syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Kabuki syndrome.
Explore research for Kabuki syndrome
Explore actively recruiting Kabuki syndrome studies with HealthSpark.
Find actively recruiting studies for Kabuki syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Kabuki syndrome studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Kabuki syndrome
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Kabuki syndrome experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.