Xia-Gibbs Syndrome

Xia-Gibbs Syndrome

Xia-Gibbs syndrome is a rare genetic disorder caused by mutations in the AHDC1 gene. Characterised by developmental delays, intellectual disability, and distinctive facial features, Xia-Gibbs syndrome also includes sleep abnormalities and potential respiratory issues. Diagnosis involves genetic testing, and management is tailored to individual symptoms and supportive therapies.