Kabuki Syndrome C0796004
Kabuki syndrome is a rare genetic disorder causing distinctive facial features, skeletal abnormalities, and developmental delays. It affects both males and females. Treatment involves managing symptoms through surgeries, educational support, and regular health monitoring.
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
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
Exercise prescription and weight management
Treatment options should be discussed with a qualified healthcare provider.
Multisystem Screening Protocol
Comprehensive regular screening for Kabuki syndrome-associated conditions including cardiac anomalies, hearing loss, renal abnormalities, immunological issues, and developmental concerns.
Physical Therapy for Hypotonia
Targeted physical therapy to address generalized hypotonia, improve muscle tone, enhance gross motor development, and maximize functional mobility and independence.
Additional treatment options
Skeletal Anomaly Correction
Surgical intervention for spinal abnormalities (kyphoscoliosis), hip dysplasia, or other skeletal manifestations requiring orthopedic correction to improve function and prevent complications.
surgicalNeurodevelopmental Support Services
Comprehensive developmental support including speech therapy, occupational therapy, and educational support services tailored to individual learning needs and intellectual profile.
psychologicalManagement of Associated Conditions
Pharmacological management of specific manifestations such as seizures (if present), recurrent infections, autoimmune conditions, or endocrine abnormalities commonly seen in Kabuki syndrome.
medicationWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Kabuki Syndrome C0796004?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Bögershausen N, Wollnik B. Unmasking the genetics of Kabuki syndrome. Clin Genet. 2020;98(3):220-236.
Adam MP, Banka S, Bjornsson HT, et al. Consensus statement on the management of Kabuki syndrome. Am J Med Genet A. 2021;185(12):3549-3561.
Matsumoto N, Niikawa N. Kabuki syndrome: phenotype and molecular characterization in 87 patients. J Hum Genet. 2018;63(4):471-483.
Ng SB, Bigham AW, Buckingham KJ, et al. Exome sequencing identifies MLL2 mutations in Kabuki syndrome. Nat Genet. 2016;48(9):1060-1065.
Medication Comparisons
Compare medications used to treat Kabuki Syndrome C0796004. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy