Ectrodactyly-Ectodermal Dyspl... Health Article

Treatment and management

There is no cure for EEC syndrome, but there are many treatments available to address the symptoms. These treatments include surgery, dental care, prevention of complications from hypohydrosis (abnormal sweating), and other preventative treatments.

Individuals with EEC syndrome may need surgery to correct cleft lips, cleft palates, and abnormalities with their hands and feet. Correction of cleft lip is usually done in infancy, as is surgery for cleft palate. Correction of cleft palate is important for feeding and for speech.

Surgery may be done on hand and foot abnormalities to improve the function of these limbs, to improve the appearance of these limbs, and to aid in shoe fit.

Typically patients with EEC syndrome will need extensive dental work. X rays may be taken to document the presence or absence of teeth. Abnormal teeth may be pulled or capped. Replacement dentures may be worn during childhood. After growth has ended, many individuals will receive dental implants.

Hypohydrosis, or impaired sweating, is a major complication of EEC syndrome. Without normal sweating, the body cannot regulate temperature properly. Therefore, overheating is a common problem, and can lead to seizures, coma, and death in severe cases. It is important that affected individuals with an impaired ability to sweat follow the general precautions of using air conditioning when necessary, avoiding vigorous exercise, wear light clothing, and avoid hot temperatures.

Abnormal development of the eye can result in dryness of the eye, cataracts, and vision defects. Artificial tears can be used to protect the eyes from corneal scarring, which can lead to blindness if left untreated.

Prognosis

The prognosis for most individuals with EEC syndrome is very good. Life expectancy ranges from slightly reduced to normal. The most life-threatening complications come from sweating problems. Individuals with an impaired ability to sweat are at risk to overheat, which can lead to seizures, coma, and death. The life expectancy of individuals with EEC syndrome without sweating problems is expected to be normal.

The prognosis for most people with EEC syndrome is very good. In general, they have minimal and manageable serious medical problems, normal IQ, and most achieve success and have a long life, irregardless of their disabilities. Successful social adaptation plays an important role in the ultimate success and happiness of an individual with EEC syndrome. It is very important that the career and life choices of an individual with EEC syndrome not be limited by preconceived ideas about their abilities.

ORGANIZATIONS

National Foundation for Ectodermal Dysplasias. PO Box 114. 410 East Main. Mascoutah, IL 62258-0114. (618) 566-2020. Email: info@nfed.org.

WEBSITES

American Cleft Palate-Craniofacial Association. (April 10, 2005.) <http://www.cleftline.org>.

National Foundation for Ectodermal Dysplasia. (April 10, 2005.) <http://www.nfed.org>.

Kathleen A. Fergus, MS, CGC