Cardiofaciocutaneous Syndrome Health Article

Diagnosis

The diagnosis of cardiofaciocutaneous syndrome relies on physical exam by a physician familiar with the condition and by radiographic evaluation, such as the use of x rays or ultrasound to define abnormal or missing structures that are consistent with the criteria for the condition (as described above). Although a diagnosis may be made as a newborn, most often the features do not become fully evident until early childhood.

There is no laboratory blood test or commercially available genetic test that can be used to identify people with cardiofaciocutaneous syndrome. However, because the condition is so rare, advanced genetic analysis may be available as part of a research study to determine if changes in regions of chromosome 12 are present.

Cardiofaciocutaneous syndrome can be differentiated from Noonan syndrome by the presence of nervous system abnormalities, such as low muscle tone, seizures, and abnormal movements of the eye, as well as by typical changes in the hair and skin.

Treatment and management

There is no cure for cardiofaciocutaneous syndrome. The genetic change responsible for cardiofaciocutaneous syndrome is present in every cell of the body and, at the current time, there is no means of correcting this genetic abnormality.

Treatment of the syndrome is variable and centers on correcting the different manifestations of the condition. For children with heart defects, surgical repair is often necessary. This may take place shortly after birth if the heart abnormality is life threatening, but often physicians will prefer to attempt a repair once the child has grown older and the heart is more mature. For children who experience seizures, lifelong treatment with antiseizure medications is often necessary. Oral or topical medications may also be used to treat the inflammatory skin conditions and provide some symptomatic and cosmetic relief.

During early development and progressing into young adulthood, children with cardiofaciocutaneous should be educated and trained in behavioral and mechanical methods to adapt to their disabilities. This program is usually initiated and overseen by a team of health care professionals including a pediatrician, physical therapist, and occupational therapist. A counselor specially trained to deal with issues of disabilities in children is often helpful is assessing problem areas and encouraging healthy development of self-esteem. Support groups and community organizations for people with cardiofaciocutaneous syndrome or other disabilities often prove useful to the affected individual and their families. Specially-equipped schools or enrichment programs should also be sought.

Children with cardiofaciocutaneous syndrome should be seen regularly by a team of health care professionals, including a pediatrician, medical geneticist, pediatric cardiologist, dermatologist, and neurologist. Consultation with a reconstructive surgeon may be of use if some of the physical abnormalities are particularly debilitating.

Prognosis

The prognosis of children with cardiofaciocutaneous syndrome depends on the severity of the symptoms and the extent to which appropriate treatments are available. In addition to the physical disabilities, the mental retardation and other nervous system effects can be severe. Since cardiofaciocutaneous syndrome was discovered relatively recently, very little is known regarding the level of functioning and the average life span of individuals affected with the condition.

BOOKS

Behrman, R. E., ed. Nelson Textbook of Pediatrics. Philadelphia: W.B. Saunders, 2000.

PERIODICALS

Grebe, T. A., and C. Clericuzio. "Cardiofaciocutaneous syndrome." Australiasian Journal of Dermatology 40 (May 1999): 111–13.

Neri, G., and J. M. Opitz. "Heterogeneity of cardio-facio-cutaneous syndrome." American Journal of Medical Genetics 95 (November 2000): 135–43.

ORGANIZATIONS

Cardio-Facio-Cutaneous Syndrome Foundation. 3962 Van Dyke St., White Bear Lake, MN 55110. <http://www.cfcfoundation.com>.

CardioFacioCutaneous Support Network. 157 Alder Ave., McKee City, NJ 08232. (609) 646-5606.

Cardiofaciocutaneous Syndrome Family Network. 183 Brown Rd., Vestal, NY 13850. (607) 772-9666. <http://www.cfcsyndrome.org>.

National Organization for Rare Disorders (NORD). PO Box 8923, New Fairfield, CT 06812-8923. (203) 746-6518 or (800) 999-6673. Fax: (203) 746-6481. <http://www.rarediseases.org>.

WEBSITES

"Cardiofaciocutaneous syndrome." OMIM—Online Mendelian Inheritance in Man. National Center for Biotechnology Information. <http://www3.ncbi.nlm.nih.gov/htbin-post/Omim>.

Oren Traub, MD, PhD