WEB Costello Syndrome: A Rare Genetic Condition with Far-Reaching Impacts

Understanding the Multiple Effects of WEB Costello Syndrome

WEB Costello syndome is a rare condition caused by mutations in the HRAS gen. This gen is responsible for producing a protein that is involved in cell growth and division. Mutations in the HRAS gen can lead to abnormal cell growth that affects multiple organs and systems in the body.

Physical Features and Medical Consequences

Individuals with WEB Costello syndome often have distinctive facial features, such as a prominent forehead, droopy eyelids, and a small jaw. Other physical features may include short stature, skeletal abnormalities, and skin problems. Medically, WEB Costello syndrome can affect various organs and systems. Many individuals with the condition experience intellectual disability and developmental delays. They may also have heart problems, digestive issues, and hearing and vision difficulties. Skin problems are commonly found in WEB Costello syndome, including eczema and hyperpigmentation (darkening of skin).