Genetics and Congenital Anoma... Health Article

Treatment and management

Deformations are typically more amenable to successful treatment and correction than other types of anomalies. For instance, infants with dislocated hips or clubfeet can usually achieve normal function after a regimen of bracing, casting, and movement therapy, although in some cases minor surgery is also necessary. Many malformations can also be successfully repaired, especially those that are isolated. However, invasive and complex surgery is often needed, with only partial improvement in some cases. Certain malformations, such as cleft lip/palate, require multiple surgeries performed in stages as the child grows. For the most part, disruptions and dysplasias are minimally treatable, if at all. However, an exception could be the use of a prosthetic device for a limb amputation anomaly caused by a disruption such as an amniotic band.

Prognosis

The prognosis for any particular congenital anomaly, whether isolated or part of a sequence or syndrome, can vary greatly. Medical complications from one anomaly may also adversely affect the prognosis of another, or affect the course of an entire syndrome. In general, however, children with extrinsically caused deformations tend to fare better than those with other types of anomalies. Likewise, isolated malformations usually carry a better prognosis than multiple malformations/deformations, intrinsically derived deformations, and most types of tissue dysplasia. Disruption anomalies have widely varying prognoses based on various factors, such as the organ or body parts affected, the degree of disruption, and the timing during morphogenesis at which the disruption began.

BOOKS

Moore, Keith L., and T. V. N. Persaud. Before We Are Born: Essentials of Embryology and Birth Defects, 5th edition. Philadelphia: W. B. Saunders Company, 1998.

PERIODICALS

Riddle, Robert D., and Clifford J. Tabin. "How Limbs Develop." Scientific American. 280 (February 1999): 74–79.

ORGANIZATIONS

Alliance of Genetic Support Groups. 4301 Connecticut Ave. NW, Suite 404, Washington, DC 20008. (202) 966-5557.

March of Dimes Birth Defects Foundation. 1275 Mamaroneck Ave., White Plains, NY 10605. (888) 663-4637. (April 19, 2005.) <http://www.marchofdimes.com>.

National Society of Genetic Counselors. 233 Canterbury Dr., Wallingford, PA 19086-6617. (610) 872-1192. (April 19, 2005.) <http://www.nsgc.org/>.

WEBSITES

Cho, Mike, Mike Cohen, and Seeta Sistla. What Is a "Normal" Phenotype? A Paper Written as Background to Discussion. Developmental Biology Online. April 15, 2003 (April 18, 2005). <http://www.devbio.com/article.php?ch=21&id=169>.

View Dysmorphic Syndrome Features. Institute of Child Health, University College, London. (April 18, 2004.) <http://www.hgmp.mrc.ac.uk/DHMHD/view_human.html>.

Scott J. Polzin, MS