The Costello Program at the Nemours/Alfred I. duPont Hospital for Children addresses the multiple medical and developmental needs of patients and their families. Our coordinated approach provides:
- evaluation of patients for a possible diagnosis of Costello syndrome
- continuity and coordination of medical care
- collaboration with pediatric subspecialists who are knowledgeable about this rare disorder and its associated medical problems
- connection to ongoing research and the most current information available worldwide
What is Costello syndrome?
Costello syndrome is a distinct collection of congenital (present at birth) physical differences affecting multiple organ systems and causing developmental delay. First described in medical literature in 1971, its cause has not yet been determined.
Characteristic findings generally include severe failure to thrive and feeding problems in early childhood; loose skin with deep creases in the hands; abnormalities in the positioning of hands and feet; and loose joints and low muscle tone with delayed milestones. During later childhood, short stature, tight Achilles tendons, and skin tags may be noted. Heart abnormalities can also be part of Costello syndrome.
A diagnosis is usually made clinically (which means it is based solely on your child’s medical history and the findings of a physical exam) and then confirmed by a molecular genetic testing. This testing, performed on a child’s blood sample, looks for the specific mutation (gene change) that is associated with Costello syndrome.
Since Costello syndrome is very rare, it often takes general community health care providers a long time to detect. Because children with Costello syndrome are at risk for severe medical problems, such as heart rhythm abnormalities, thickened heart muscle, and tumor development, an earlier diagnosis by our leading experts may allow related medical problems to be identified and treated as soon as possible.
The expertise of our genetics specialists brings Costello patients from all over the world to our hospital. In addition, blood samples from international patients are sent to our state-of the-art molecular diagnostic lab for testing.
Additional Resources
Nemours is committed to keeping children and parents informed of the latest medical information. Our Costello Program provides educational materials to assist parents in learning more about their child’s condition and treatment. We also suggest that parents obtain additional information from the International Costello Syndrome Support Group.