BIRTH DEFECTS

Turner Syndrome  
Turner syndrome is a genetic defect in which one of the two sex chromosomes is missing or defective. This disease affects 1 in 2500 live female births each year. The characteristics of Turner syndrome are multiple and vary widely from patient to patient. Most all individuals affected by this syndrome have short stature, usually growing to an adult height of around 4 feet 8 inches. Other common characteristics in appearance are a short, often webbed neck and low-set ears. Hands and feet may be swollen or puffy at birth and there may be the presence of colored spots on the skin. The loss of ovarian function is common early in childhood, meaning they will not enter puberty at the normal age, if ever. Some girls may have some breast development and begin menstruating but they normally cease development and menstruation within a few years. There are some heart defects that may occur along with Turner syndrome, such as coarctation of the aorta and bicuspid aortic valve. Osteoporosis is a common development with Turner syndrome patients, as well as type II diabetes and kidney problems.

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