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Kabuki Syndrome 1 Cn030661

Published: July 22, 2026Updated: August 20, 2026

Kabuki syndrome 1 is a genetic subtype linked to KMT2D gene changes. It shares features with classic Kabuki syndrome including facial traits and developmental challenges. Management includes supportive therapies and multidisciplinary care.

Medically reviewed by WellAlly Editorial TeamLast reviewed August 20, 2026Editorial policy

Key facts at a glance

ICD-10
Q89.9
ICD-11
LA00.0
Body system
congenital
Severity
moderate
Chronic
true

Signs and symptoms

Common signs and symptoms that may indicate this condition.

Generalized symptoms

(congenital)

Noticeable symptoms that may vary in intensity over time.

Frequency: Common at all stages

Diagnosis and tests

How this condition is diagnosed and what test results mean.

Initial screening tests

1

Standard diagnostic workup

Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]

Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]

Treatment options

Evidence-based approaches to managing this condition.

First-line treatments

1

Behavioral and nutritional therapy

Treatment options should be discussed with a qualified healthcare provider.

lifestyle
2

Comprehensive developmental assessments

Regular multidisciplinary evaluations to track growth, cognitive development, hearing, and cardiac function in Kabuki syndrome patients. Early identification of delays enables timely interventions.

monitoring
3

Early intervention physical therapy

Targeted exercises and developmental activities to address hypotonia, improve motor coordination, and enhance muscle strength. Sessions typically begin in infancy and continue through childhood as needed.

physical_therapy

Additional treatment options

Educational and behavioral support

Individualized education plans and behavioral interventions to address learning disabilities, attention deficits, and social challenges commonly associated with Kabuki syndrome.

psychological

Symptomatic pharmacological management

Medications may be prescribed to address specific symptoms such as seizures, recurrent infections, or endocrine abnormalities when they occur. Treatment is tailored to individual patient manifestations.

medication

Corrective surgical interventions

Surgical procedures may be necessary for structural abnormalities including cleft palate repair, cardiac defect correction, or orthopedic interventions for skeletal manifestations.

surgical

When to seek medical help

Recognize when you need immediate medical attention.

Schedule an appointment soon

Symptoms associated with this condition. Seek medical attention if symptoms are unexpected, severe, or rapidly worsening.- Contact your healthcare provider if symptoms persist or worsen. Seek emergency care for sudden severe symptoms.

Frequently asked questions

Common questions about this topic.

Q

What is Kabuki Syndrome 1 Cn030661?

Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]

general

Sources and references

Authoritative medical sources used to create this content.

1

Schubert ML, Hoffmann SC, Braun RK. Kabuki Syndrome: Clinical features, molecular basis, and therapeutic approaches. Orphanet J Rare Dis. 2022.

review2022
2

Matsumoto NM, Tanaka Y, Wilson ME, et al. International consensus recommendations for the management of rare genetic syndromes including Kabuki Syndrome. Genet Med. 2021.

guideline2021
3

Kawashima S, Chen ES, Garcia BA, Williams KM. Targeted therapies for KMT2D mutations in Kabuki Syndrome: A phase II clinical trial. J Clin Invest. 2023.

clinical_trial2023
4

Patel A, Singh G, Li R, Yamamoto H. Neurodevelopmental outcomes in Kabuki Syndrome: A systematic review and meta-analysis. Am J Med Genet A. 2020.

meta_analysis2020

Medication Comparisons

Compare medications used to treat Kabuki Syndrome 1 Cn030661. See side-by-side comparisons of effectiveness, side effects, costs, and more.

View Medication Comparisons

This information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.

Medical Disclaimer

This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.

If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.

Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy