"Costello Syndrome" – What Is It?
Costello syndrome is a hereditary disorder of physical development (see below) that is also associated with mental retardation and a significantly increased risk of cancer. There are similarities to Noonan syndrome.
How Is "Costello Syndrome" Diagnosed?
People with Costello syndrome show typical characteristics that can be recognized, for example, by experienced human geneticists, pediatricians, or other people with experience of this disorder.
The following changes are variable:
- Conspicuous coarse facial features with low-set ears rotated backward
- Wide-set eyes
- Drooping eyelid
- Short stature
- Wide neck with low hairline
- Congenital heart defects (especially hypertrophic cardiomyopathy)
- Tachycardia
- Skin and hair changes
- Vision problems
- Undescended testicles
- Learning problems
- Feeding problems
- High cancer risk, especially for embryonal rhabdomyosarcoma, neuroblastoma, and early-onset bladder cancer
After a suspected clinical diagnosis, a genetic test can be carried out to confirm the diagnosis. This is successful in the vast majority of cases.
What Is the Risk of Cancer?
Around 15% of patients develop a tumor by the age of 20.
What Is Known About the Development of "Costello Syndrome"?
Costello syndrome is caused by a hereditary mutation in the HRAS gene.
Is There Any Form of Treatment Available?
There is no therapy for Costello syndrome itself. However, it makes sense to address the individual problems associated with Costello syndrome (heart, hearing, vision, etc.) with the treatment team and promote learning in particular.
The therapy should be discussed with the respective study director if cancer occurs.
Diagnosis of " Costello Syndrome" What's Next?
If you have been diagnosed with this cancer predisposition syndrome, it is important to see a specialist. The following section explains whether cancer screening tests or other measures are needed and how they should be carried out. We also give you some valuable tips on what you can do yourself. If you have any questions, please do not hesitate to contact us or your doctor.
Diagnosis of " Costello Syndrome" What's Next?
If you have been diagnosed with this cancer predisposition syndrome, it is important to see a specialist. The following section explains whether cancer screening tests or other measures are needed and how they should be carried out. We also give you some valuable tips on what you can do yourself. If you have any questions, please do not hesitate to contact us or your doctor.
Medical Measures for Early Detection
- 0 to 8-10 years: Physical examination and ultrasound of the abdomen and pelvis (possibly with X-ray of the lungs) every 3-4 months
- From the age of 10: annual urinalysis
Costello Syndrome- What You Can Do Yourself
You Should Pay Attention to This
If your child feels unwell, is listless, exhausted, or pale, has a palpable change or an unusually bulging abdomen, or if you notice anything else unusual (e.g., bloody urine), you should seek clarification as soon as possible.
Further Information
Patients can also register for the CPS register at any time or have this done by the doctors looking after them. Furthermore, Costello syndrome is being researched in our companion projects Liquid Biopsy and ADDRess, so we encourage patients to register for these in addition to the CPS Registry.
Any further questions?
You can reach us by e-mail and telephone, or you can come to our consultation hours in person. For more information, please visit our contact page.
