Q87.88

Clinical Causes: Mutations or alterations in the CTNNB1 gene, which provides instructions for making a protein involved in cell adhesion, signaling, and gene transcription. De novo genetic mutations, meaning they are new changes not inherited from parents, are common causes. Potential environmental factors are not well established; the primary cause is genetic alteration.

Key Symptoms: Intellectual disability ranging from mild to severe. Developmental delays in speech, motor skills, and social interaction. Distinctive facial features such as a broad forehead, hypertelorism (wide-set eyes), and a small jaw. Hypotonia, or decreased muscle tone, leading to motor challenges. Potential behavioral issues, including autism spectrum disorder (ASD) traits. Seizures may occur in some cases. Other physical features like a larger head circumference (macrocephaly) or minor craniofacial anomalies.

Diagnosis Path: Detailed medical and family history review to identify developmental patterns and physical features. Physical examination to observe characteristic facial features and physical anomalies. Genetic testing, particularly DNA sequencing of the CTNNB1 gene, to detect mutations. Additional assessments might include brain imaging and neurological evaluations to understand functional impacts.

Treatment Protocols: Developmental therapies such as speech, occupational, and physical therapy. Educational interventions tailored to individual learning needs. Behavioral therapies that address autism-related behaviors and improve social skills. Medical management of seizures and other neurological issues if they occur. Regular monitoring and support from a team of specialists, including geneticists, neurologists, and psychologists.