Carpenter Syndrome Health Article

Treatment and management

Operations to correct the skull malformations associated with Carpenter syndrome should be performed during the first year of the baby's life. This is because modifying the skull bones is much easier at that age and new bone growth, as well as the required bone reshaping, can occur rapidly. Also, the facial features are still highly undeveloped, so a greatly improved appearance can be achieved. If heart defects are present at birth, surgery may also be required. Follow-up support by pediatric, psychological, neurological, surgical, and genetic specialists may be necessary.

Individuals with Carpenter syndrome may have vision problems that require consultation with an ophthalmologist, or doctor specialized in the treatment of such problems. Speech and hearing therapy may also be necessary if the ears and the brain have been affected. If the palate is severely malformed, dental consultation may also be necessary. In the most severe cases of Carpenter syndrome, it may be necessary to treat feeding and respiratory problems that are associated with the malformed palate and sinuses. Obesity is associated with Carpenter syndrome and dietary management throughout the patient's lifetime may also be recommended.

Webbed fingers or toes (cutaneous syndactyly) may be easily corrected by surgery. Extra fingers or toes (polydactyly) may often be surgically removed shortly after birth.

Surgical procedures also exist to correct some of the heart defects associated with Carpenter syndrome, as well as the testicles disorder of affected males. The abnormal opening of the large intestine near the navel (umbilical hernia or omphalocele) can also be treated by surgery. Additionally, intervention programs for developmental delays are available for affected patients.

Prognosis

Carpenter syndrome is not usually fatal if immediate treatment for the heart defects and/or skull malformations is available. In all but the most severe and inoperable cases of craniosynostosis, it is possible that the affected individual may attain a greatly improved physical appearance. Depending on damage to the nervous system, the rapidity of treatment, and the potential brain damage from excess pressure on the brain caused by skull malformation, certain affected individuals may display varying degrees of developmental delay. Some individuals will continue to have vision problems throughout life. These problems will vary in severity depending on the initial extent of their individual skull malformations, but most of these problems can now be treated.

PERIODICALS

Cohen, D., J. Green, J. Miller, R. Gorlin, and J. Reed. "Acrocephalopolysyndactyly type II—Carpenter syndrome: clinical spectrum and an attempt at unification with Goodman and Summit syndromes." American Journal of Medical Genetics (October 1987): 311-24.

Pooh, R., Y. Nakagawa, N. Nagamachi, K. Pooh, Y. Nakagawa, K. Maeda, R. Fukui, and T. Aono. "Transvaginal sonography of the fetal brain: detection of abnormal morphology and circulation." Croation Journal of Medicine (1998): 147-57.

Wilkie, A. "Craniosynostosis: genes and mechanisms." Human Molecular Genetics (1979): 1647-56.

ORGANIZATIONS

Children's Craniofacial Association. PO Box 280297, Dallas, TX 75243-4522. (972) 994-9902 or (800) 535-3643. contactcca@ccakids.com. <http://www.ccakids.com>.

Craniosynostosis and Parents Support. 2965-A Quarters, Quantico, VA 22134. (877) 686-CAPS or (703) 445-1078. <http://www.caps2000.org/>.

WEBSITES

Craniosupport. <http://www.craniosupport.com> (February 8, 2001).

Golwyn, D., T. Anderson, and P. Jeanty. "Acrocephalopolysyndactyly." TheFetus.Net. <http://www.thefetus.net> (February 8, 2001).

Paul A. Johnson