Publications for Patients & Providers

The Kabuki Syndrome Foundation strives to keep you updated on research publications that can improve quality of life for people with Kabuki syndrome.

Thank you to all the individuals and families who have contributed to research. Because of your gift, families today have more tools for diagnosis, therapies, and preventative healthcare.

Key Publications

The best place to start: Clinical Characteristics then click GeneReviews to see summaries of current healthcare recommendations.

The collection of publications here represents those most referenced and requested by families at this time.

Downloadable Summary: Symptoms

Clinical Characteristics & Recommended Evaluations

GeneReviews: Kabuki Syndrome

From Genotype to Phenotype – A Review of Kabuki Syndrome

Caregiver-reported Clinical Characteristics & Associated Burden

KDM6A Presentation in Both Sexes and Compared to KMT2D

Key Symptoms

Growth Charts in Kabuki Syndrome 1 (KMT2D)

Sleep disturbance is a common feature of Kabuki syndrome.

Neurobehavioral phenotype of Kabuki syndrome: Anxiety is common.

 

Diagnosis

International Consensus of Diagostic Criteria for Kabuki Syndrome

GeneReviews: Kabuki Syndrome – includes differential diagnosis

Defining DNA Methylation Signature of Kabuki Syndrome

More Resources

Conference Recordings
Conference Recordings
Intro to Epigenetics
Intro to Epigenetics
KSF's Research Roadmap
KSF's Research Roadmap