What is Costello syndrome?
Costello syndrome is a hereditary physical development disorder (see below) that is also associated with mental disability and a greatly increased risk of malignant diseases. It bears similarities to Noonan syndrome.
How is Costello syndrome diagnosed?
People with Costello syndrome exhibit typical characteristics that can be identified by experienced human geneticists, pediatricians, or others who have experience with this disease.
The following changes are present in a variety of ways:
A suspected diagnosis based on clinical symptoms can be followed by a genetic test to confirm the diagnosis. This genetic test invariably confirms the diagnosis.
What is the risk of cancer?
Around 15% of patients develop a tumor by the age of 20.
What causes Costello syndrome?
Costello syndrome develops due to a hereditary change in the HRAS gene.
Is there a treatment?
There is no treatment for Costello syndrome itself. However, it is helpful to address the individual problems associated with Costello syndrome (heart, hearing, vision, etc.) together with the treatment team and also to focus on promoting learning.
If cancer develops, the treatment should be discussed with the principal investigator concerned.
Surveillance Recommendations for the Early Detection of Cancer
Surveillance Recommendations
Self-Care and Support
What should I pay special attention to?
If you child feels unwell, is listless, fatigued, or pale, has a palpable change or unusual outward bulge in the abdomen, or if you notice anything else that is unusual (e.g. blood in the urine), you should seek to have this evaluated as soon as possible.