Kabuki Syndrome — Research Summary
Printed from RareWays (rareways.com.au) on 10 September 2026
For general awareness only. Not medical advice. Discuss all care options with your healthcare team.
5 Most Recent Research Articles
- 1.
Letter to the Editor: Long-term kidney outcomes in patients with Kabuki syndrome.
Mirza Zoha et al. — Pediatric nephrology (Berlin, Germany) (1 December 2026)
https://pubmed.ncbi.nlm.nih.gov/41015985/
- 2.
A novel
Liang Yixuan et al. — The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians (1 December 2026)
https://pubmed.ncbi.nlm.nih.gov/41833451/
- 3.
A next-generation episignature for Kabuki syndrome enables fine mapping of the impact of KMT2D variants to inform precision medicine.
Wang Mengqi et al. — American journal of human genetics (4 June 2026)
https://pubmed.ncbi.nlm.nih.gov/42134323/
- 4.
A foundation model of cancer genotype enables precise predictions of therapeutic response.
Kong JungHo et al. — Cancer discovery (26 May 2026)
https://pubmed.ncbi.nlm.nih.gov/42188872/
- 5.
Integration Analysis of Bayesian and Machine Learning for Heterogeneity, Biomarkers, and Optimal Combination Regimens of Pucotenlimab in Solid Tumors.
He Yingge et al. — Cancer medicine (1 May 2026)
https://pubmed.ncbi.nlm.nih.gov/42043855/
Clinical Trials — Currently Recruiting (Australia)
Ask your doctor whether you or your child may be eligible for any of these trials.
- 1.
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
Recruiting — Sanford Health
https://clinicaltrials.gov/study/NCT01793168
Source: RareWays research directory. Data from PubMed, Europe PMC, OpenAlex, ClinicalTrials.gov.
Always verify information with your healthcare team before making any decisions about your care.
Kabuki Syndrome
Kabuki syndrome is a rare genetic condition caused by mutations in KMT2D or KDM6A genes, causing intellectual disability, growth deficiency, distinctive facial features, and skeletal abnormalities. Diagnosis rates have increased with widespread genetic testing. There is no cure, but multidisciplinary support improves quality of life.
Most Recent Research
Common Questions
What is Kabuki Syndrome?
Kabuki syndrome is a rare genetic condition caused by mutations in KMT2D or KDM6A genes, causing intellectual disability, growth deficiency, distinctive facial features, and skeletal abnormalities. Diagnosis rates have increased with widespread genetic testing. There is no cure, but multidisciplinary support improves quality of life.
How many clinical trials are available for Kabuki Syndrome?
RareWays currently indexes 6 clinical trials for Kabuki Syndrome, of which 1 is actively recruiting. Trial availability changes as new studies are registered — check the trials tab for current status.
Where does the research data for Kabuki Syndrome come from?
RareWays aggregates research from PubMed, Europe PMC, OpenAlex, and ClinicalTrials.gov. Data is updated regularly by Rocky, RareWays' automated research engine. All articles and trials link directly to their original sources.
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This information is for general awareness only.
For guidance specific to your situation, please speak with your healthcare team.