What is craniodiaphyseal dysplasia?

Craniodiaphyseal dysplasia is a rare genetic disorder characterized by progressive thickening of the bones in the skull and facial area. This excessive bone growth can lead to a range of symptoms, including vision and hearing problems, facial deformities, breathing difficulties, and neurological issues.

Individuals with craniodiaphyseal dysplasia may also experience developmental delays, intellectual disabilities, and other health complications. The condition is caused by mutations in the ANO5 gene, which plays a role in regulating bone growth.

Treatment for craniodiaphyseal dysplasia typically focuses on managing symptoms and complications associated with the disorder. This may include surgeries to relieve pressure on the brain or improve facial deformities, as well as therapies to address developmental delays and improve quality of life.

Because craniodiaphyseal dysplasia is a rare condition, more research is needed to fully understand its underlying causes and develop more effective treatments. Genetic counseling may be recommended for individuals and families affected by this disorder to better understand their risks and options for managing the condition.