Turner Syndrome Physical Features
Some women may have only a few physical features of Turner syndrome, while others may have many. One physical feature that almost all individuals with Turner syndrome share is short stature. Other physical features include a short neck with a webbed appearance, a low hairline at the back of the neck, and low-set ears.
For an individual situation, it is difficult to say what the impact of Turner syndrome will be on a woman's physical features. Some women may have few Turner syndrome physical features; others may have many.
Almost all individuals with Turner syndrome have short stature. This is partially due to the loss of a specific gene called the SHOX (short for "short stature homeobox") gene, which is found on the X chromosome (see Cause of Turner Syndrome). This particular gene is important for long bone growth.
Growth slowing can begin while the person is still in the womb, and growth lags during childhood and adolescence. The average adult height for a woman with Turner syndrome is 143-145 cm (approximately 4 feet, 8 inches). Final adult height with Turner syndrome can be increased by a few inches if growth hormone (GH) treatment is given relatively early in childhood. However, not all individuals with Turner syndrome get a good growth response to GH.
The loss of the SHOX gene (see Cause of Turner Syndrome) may also explain some of the skeletal features found in Turner syndrome, such as short fingers and toes, and irregular rotations of the wrist and elbow joints.
Other Turner syndrome physical features can include:
- A short neck with a webbed appearance
- A low hairline at the back of the neck
- Low-set ears.
Hands and feet of affected individuals may be swollen or puffy at birth. Women with Turner syndrome will also often have soft nails that turn upward at the ends when they are older. These features appear to be due to an obstruction of the lymphatic system during fetal development.
Another characteristic physical feature of Turner syndrome is the presence of multiple pigmented nevi, which are colored spots on the skin.