Synonyms: Kabuki make-up syndrome | Niikawa-Kuroki syndrome
A rare multiple congenital anomalies/neurodevelopmental disorder characterized by five major features: intellectual disability (typically mild to moderate) visceral malformations (frequently congenital heart defects) persistence of fetal fingertip pads post-natal short stature skeletal anomalies (brachymesophalangy brachydactyly V spinal column abnormalities and fifth digit clinodactyly) and specific facial features (arched and broad eyebrows long palpebral fissures eversion of the lower eyelid large prominent cupped ears depressed nasal tip and short columella). Various additional features are frequently observed.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version February 2026
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Kabuki syndrome?
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Advocacy Organizations
All Things Kabuki
Raise awareness, incite research and support individuals and families affected by Kabuki Syndrome.
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
DDX3X Foundation
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
Help Hope Live
Help Hope Live believes a medical crisis shouldn’t become a financial crisis. Help Hope Live supports community-based fundraising for people with unmet medical expenses and related costs due to cell and organ transplants or catastrophic injuries and illnesses. These efforts play a critical role in helping clients access the care and equipment they need to heal, live, and thrive.
Kabuki Syndrome Foundation
We drive research that shows promise to treat or cure Kabuki syndrome through fundraising, knowledge-sharing, and collaborating with researchers around the world.
Moonshots for Unicorns
Curing single-gene disorders
Project CASK
VISION Project CASK believes in a world free of the life limitations and debilitating effects of CASK gene disorders. MISSION To accelerate breakthroughs in research to develop treatments and a cure for CASK gene disorders. VALUES Collaboration. Transparency. Urgency.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
TNPO2 Foundation
Develop personalized therapeutics for ultra rare genetic neurodevelopmental diseases, especially those arising from mutations in the TNPO2 gene.
Wave of Support, Inc
Empowering those affected by bleeding disorders and other rare disease through advocacy, resources, education, and support
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Clinical Trials
For a list of clinical trials in this disease area, please click here.