CTNNB1 syndrome

This code represents CTNNB1 syndrome, a rare neurodevelopmental disorder caused by a pathogenic variant in the CTNNB1 gene. It is characterized by intellectual disability, microcephaly, spasticity, and often includes ophthalmological abnormalities and distinctive facial features. The syndrome results from a disruption in the beta-catenin protein, crucial for brain development.

Use this code for patients with a confirmed diagnosis of CTNNB1 syndrome, typically established through genetic testing identifying a pathogenic CTNNB1 variant. It is appropriate when the patient exhibits the characteristic constellation of developmental delays, neurological deficits, and other associated features consistent with the syndrome. Documentation should clearly state the genetic diagnosis and clinical manifestations.

• Ensure genetic testing results confirming a CTNNB1 pathogenic variant are present in the medical record.
• Do not use this code for isolated symptoms that may be part of CTNNB1 syndrome if the genetic diagnosis has not been confirmed.
• Code all associated manifestations, such as intellectual disability (F70-F79), microcephaly (Q02), or spasticity (G80.x), as secondary diagnoses.