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Kabuki syndrome (KMS) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

Kabuki syndrome

MONDO:0016512

Also known as:KMSKabuki make up syndromeNiikawa-Kuroki syndrome

Find Clinical TrialsTrials

Overview

Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency.

OnsetINFANTILE, CONGENITAL, NEONATAL, ANTENATAL

TreatmentsNo approved treatments · 2 in pipeline

Clinical Trials1 registered · 1 recruiting

Patient Orgs2 organizations · All Things Kabuki, Supporting Aussie Kids with Kabuki Syndrome

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

No HPO annotations are available for this condition.

Age of onset: infancy, at birth, newborn period, before birth.

GeneReviews

Clinical Guidance

This section summarizes findings in more than 400 individuals with a molecularly confirmed diagnosis of Kabuki syndrome (KS).

Growth

Individuals with KS typically exhibit normal growth parameters at birth.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

Consensus clinical diagnostic criteria for Kabuki syndrome (KS) have been published .

Suggestive Findings

KS should be suspected in individuals with any combination of the five cardinal manifestations as defined by , specific structural anomalies, and/or functional differences.

Cardinal manifestations

1 Typical facial features:

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for Kabuki syndrome. An additional 2 compounds hold orphan drug designation.

Orphan Drug Designations

While no drugs are FDA-approved specifically for Kabuki syndrome, some of the following designated compounds may be used off-label in clinical practice. Treatment decisions should be made in consultation with a specialist familiar with this condition.

The following drugs have received orphan drug designation from the FDA for Kabuki syndrome. Orphan designation reflects regulatory interest and does not indicate approval for treatment.

Brand Name	Generic Name	Sponsor

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

Table 5. Recommended Surveillance for Individuals with Kabuki Syndrome

System/Concern

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

134 publications have been identified in PubMed for Kabuki syndrome. Research spans Case Report / Case Series (43%), Basic Science / Preclinical (26%), and Review / Meta-Analysis (12%).

Research Type	Count	% of Total
Patient case studies	58	43%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 1:54 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Patient Support

Patient Advocacy Groups

View all PAGs →

All Things KabukiPrimary Focus

USWebsite ↗

Supporting Aussie Kids with Kabuki SyndromePrimary Focus

USWebsite ↗

Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.

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Medical References

External Resources

Orphanet

European rare disease database

Orphanet:2322

GARD

Genetic and Rare Diseases Info Center

GARD:6810

Questions for Your Care Team

→Are any of the 1 active clinical trial a good fit for my situation?
→What is the current development status of Dabrafenib, and when might it become available?
→Are there specialists or centers of excellence for this condition in my area?
→How can I connect with All Things Kabuki and other patient organizations for support?

← Back to All Diseases

GeneReviews

Management Guidelines

Comprehensive management guidelines for Kabuki syndrome (KS) were developed in 2010 but have not been updated; these guidelines are available online (pdf). Evaluations Following Initial Diagnosis To establish the extent of disease and the needs of an individual diagnosed with KS, the following evaluations are recommended if they have not already been completed: Table 3. Recommended Evaluations Following Initial Diagnosis in Individuals with Kabuki Syndrome

System/Concern	Evaluation	Comment
Growth	Measurement of height, weight, head circumference	Consider plotting growth on KMT2D-related KS-specific growth charts.1; Growth restriction poor weight gain are common sequela of feeding difficulties.
Ophthalmologic	Ophthalmology eval	For assessment of strabismus, refractive error, ptosis, corneal abnormalities
Hearing	Baseline audiology eval	To assess for conductive /or sensorineural hearing loss
Mouth	Directed evaluation of the palate for palatal anomalies	Consider referral to a craniofacial specialist if palatal anomalies are suspected. Consider dental eval for those age 3 yrs.
Cardiac	Echocardiogram w/visualization of the aortic arch	To assess for congenital heart defects incl coarctation of the aorta Consider EKG.
Respiratory	Consider chest radiographs to assess for diaphragmatic eventuation.	In those w/respiratory issues, chronic cough, or recurrent pneumonia Gastrointestinal/
Feeding	Assess nutritional status, feeding, GERD.	Consider assessment by feeding team /or VFSS for those w/suspected dysphagia.; Infants may have FTT; adolescents adults may have obesity.
Genitourinary	Baseline kidney ultrasound	To evaluate for kidney anomalies hydronephrosis Physical exam for hypospadias /or cryptorchidism in males
Musculoskeletal	Consider radiographs of the spine in those w/scoliosis.	To assess for vertebral anomalies
Endocrinologic	Consider obtaining baseline glucose level in persons of any age.	To assess for hypoglycemia; if identified, further eval for hyperinsulinism may be considered.2 In neonates infants w/persistent hypoglycemia, assess for hyperinsulinism.3
Immunologic	T cell count, T cell subsets, serum immunoglobulin levels at time of diagnosis or at age 1 yr (whichever is later)	Refer to immunologist if:; Levels are abnormal; or; Person has history of recurrent infections.
Neurologic	EEG	In those w/suspected seizures Head MRI
Neurobehavioral/Psychiatric	Neuropsychiatric eval	Screen persons age 12 mos for concerns incl sleep disturbances, ADHD, anxiety, /or findings suggestive of ASD. Miscellaneous/
Other	Developmental assessment	Evaluate motor, speech-language, general cognitive, vocational skills.

Source: GeneReviews — "Kabuki Syndrome"

Kisho

Kabuki syndrome

Overview

Clinical Presentation

Clinical Guidance

Growth

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Orphan Drug Designations

Prognosis

Surveillance Guidelines

Research Landscape

Patient Support

Patient Advocacy Groups

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

CHARGE syndrome

Management Guidelines

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications

Latest News & Developments

A next-generation episignature for Kabuki syndrome enables fine mapping of the impact of KMT2D variants to inform precision medicine.

Multicenter experience of Kabuki syndrome: a case series of eight patients including three novel KMT2D variants and a brief review.

A novel KDM6A c.2429dup mutation causing kabuki syndrome type 2 identified in a fetus with increased nuchal translucency.

Kabuki syndrome

Overview

Clinical Presentation

Clinical Guidance

Growth

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Orphan Drug Designations

Prognosis

Surveillance Guidelines

Research Landscape

Patient Support

Patient Advocacy Groups

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

CHARGE syndrome

Management Guidelines

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications

Latest News & Developments

A next-generation episignature for Kabuki syndrome enables fine mapping of the impact of KMT2D variants to inform precision medicine.

Multicenter experience of Kabuki syndrome: a case series of eight patients including three novel KMT2D variants and a brief review.

A novel KDM6A c.2429dup mutation causing kabuki syndrome type 2 identified in a fetus with increased nuchal translucency.