Kabuki Syndrome 2 C3275495
Kabuki syndrome 2 is associated with KDM6A gene mutations and presents similarly to classic Kabuki syndrome. Both males and females can be affected. Care focuses on symptom management and developmental support.
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
Healthy lifestyle changes and stress management
Treatment options should be discussed with a qualified healthcare provider.
Multidisciplinary surveillance program
Systematic follow-up across specialties including genetics, cardiology, nephrology, and endocrinology to detect and manage multisystem involvement characteristic of Kabuki syndrome type 2.
Nutrition optimization
Calibrated nutritional support addressing feeding difficulties common in infancy and ensuring adequate caloric intake for growth. May include thickened fluids or specialized feeding approaches.
Additional treatment options
Integrative therapy approaches
Occupational and speech therapy integrated with complementary techniques such as music therapy to support communication development and sensory integration.
complementaryFamily counseling and support
Psychological support for families navigating the complexities of a genetic diagnosis, including coping strategies, genetic counseling discussions, and connecting with support networks.
psychologicalSpecialty surgical management
Surgical care coordinated with craniofacial, cardiac, and orthopedic specialists as indicated by individual anatomical manifestations of the syndrome.
surgicalWhen 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 2 C3275495?
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 Kabuki syndrome: Clinical guidelines for rare genetic disorders. Orphanet J Rare Dis. 2020.
Miyake N, Matsumoto N. KDM6A-related Kabuki syndrome: Update on molecular mechanisms and clinical manifestations. Clin Genet. 2022.
Leroy C, Amon F, Dupuis L. Safety and efficacy of developmental intervention in Kabuki syndrome type 2: A prospective cohort study. J Dev Behav Pediatr. 2021.
Banka S, Donoghue S, Clayton-Smith J. Genotype-phenotype correlates in Kabuki syndrome: Systematic review and meta-analysis. Hum Mutat. 2023.
Medication Comparisons
Compare medications used to treat Kabuki Syndrome 2 C3275495. 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