Kabuki syndrome

This code identifies Kabuki syndrome, a rare, multisystem genetic disorder characterized by distinctive facial features, intellectual disability, short stature, skeletal abnormalities, and various organ malformations. It is a congenital condition resulting from mutations in the KMT2D or KDM6A genes.

Use this code when documentation explicitly states a diagnosis of Kabuki syndrome. This diagnosis is typically made based on clinical findings and confirmed by genetic testing. Supporting documentation should include genetic test results or a physician's definitive diagnostic statement.

• Ensure the physician's documentation clearly specifies "Kabuki syndrome" and not a related or similar genetic disorder.
• Code any associated congenital anomalies or intellectual disabilities separately, as they are often components of Kabuki syndrome.
• Do not confuse with other syndromic conditions that may share some features, such as Cornelia de Lange syndrome or CHARGE syndrome, without definitive diagnostic confirmation.