What is Costello Syndrome

Costello Syndrome is a rare genetic disorder that affects various parts of the body. It is characterized by distinctive facial features, intellectual disability, and developmental delays. Individuals with Costello Syndrome often have a larger head size, loose skin, and a wide mouth with full lips. They may also experience heart abnormalities, such as structural defects or arrhythmias.

One of the key features of Costello Syndrome is its association with an increased risk of cancer. Individuals with this condition have a higher likelihood of developing certain types of tumors, including rhabdomyosarcoma and neuroblastoma. Additionally, they may experience feeding difficulties, gastroesophageal reflux, and skeletal abnormalities.

Costello Syndrome is caused by mutations in the HRAS gene, which plays a role in cell growth and division. These mutations lead to the overactivation of the HRAS protein, disrupting normal cellular processes. The condition is typically diagnosed based on clinical features and confirmed through genetic testing.

Management of Costello Syndrome involves a multidisciplinary approach, addressing the specific needs of each individual. This may include regular monitoring for potential cancerous growths, early intervention services for developmental delays, and specialized medical care for associated health issues.