Costello Syndrome (CS) is a genetic disorder caused by variants in a gene called HRAS. CS is rare and affects about one in 300,000 to one in 1.25 million individuals. Individuals with CS have an estimated 15% lifetime risk of developing cancer, particularly in soft tissue such as muscle (rhabdomyosarcoma). Other cancers known to develop in individuals with CS are nervous system (neuroblastoma) and bladder cancer.
What are some of the features and symptoms of Costello Syndrome?
- Feeding problems or failure to thrive in early childhood
- Facial features including high forehead, short nose, full lips, and low set ears rotated backwards
- Short stature
- Orthopedic issues
- Soft, loose skin
- Thin and curly hair
- Tumors or small tag of skin near the nose or anus
- Heart defects
- Intellectual disability and language impairment
What is the age at diagnosis of Costello Syndrome?
Most individuals are diagnosed in infancy.
How is Costello Syndrome treated?
There is no cure for Costello Syndrome. Treatment is focused on symptom management and may involve a team of doctors with different specialties.
What types of cancer are individuals with Costello Syndrome at higher risk of developing?
- Muscle cancer (rhabdomyosarcoma)
- Nervous system cancer (neuroblastoma)
- Bladder cancer