Q89.81
Kabuki syndrome
Clinical Classification Guidelines
Inclusion Terms
- Kabuki syndrome, type 1, due to KMT2D mutation
- Kabuki syndrome, type 2, due to KDM6A mutation
- Niikawa-Kuroki syndrome
Medical Intelligence & Overview
Kabuki syndrome is a rare genetic disorder that affects many parts of the body. It is characterized by distinctive facial features, growth delays, and various health issues. Named after the traditional Japanese kabuki dance due to the facial appearance it causes, this syndrome can vary greatly in severity among individuals. There are two main types of Kabuki syndrome, determined by the genetic mutation involved: type 1, caused by changes in the KMT2D gene, and type 2, caused by changes in the KDM6A gene.
Causes & Symptoms
Clinical Causes: Mutations in the KMT2D gene (Type 1) Mutations in the KDM6A gene (Type 2) Genetic inheritance, often autosomal dominant No known environmental factors cause Kabuki syndrome
Key Symptoms: Distinctive facial features such as arched eyebrows, long eyelashes, and a flat nasal bridge Long and/or broad face Delayed growth and development Hypotonia (poor muscle tone) in infancy Short stature Skeletal abnormalities like scoliosis or joint hyperflexibility Dermatoglyphic anomalies, such as prominent fingertip pads Intellectual disability or learning challenges Speech and language delays Repeated infections due to immune system issues Heart defects including congenital heart disease Kidney abnormalities Hearing loss or ear problems
Diagnostic & Treatment
Diagnosis Path: Diagnosis involves a combination of clinical evaluation and genetic testing. Healthcare providers look for characteristic physical features and developmental delays. Confirmatory genetic testing for mutations in KMT2D or KDM6A helps establish a diagnosis. Additional assessments may include heart and kidney examinations and developmental evaluations.
Treatment Protocols: Early intervention programs for developmental delays Speech, occupational, and physical therapy Monitoring and treating heart and kidney conditions Regular hearing evaluations and interventions Educational support tailored to individual needs Medical management of immune system deficiencies Surgical interventions for skeletal or congenital issues if needed
Clinical Advice & FAQs
Billing Guidance
Is Q89.81 a billable ICD-10 code?
Yes, Q89.81 is a specific, billable code that can be used to indicate a diagnosis for reimbursement purposes.
Documentation
How do I report Q89.81?
Clinical documentation must specify the nature of Kabuki syndrome and any associated comorbidities for accurate reporting.
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