Turner Syndrome is a genetic disorder that affects females and is characterized by the absence or abnormalities of one of the two X chromosomes. This condition can lead to a variety of physical and developmental symptoms. While the severity and specific symptoms can vary among individuals, there are several common features associated with Turner Syndrome.
One of the most noticeable symptoms of Turner Syndrome is short stature. Girls with Turner Syndrome tend to be shorter than their peers and may have a slow growth rate during childhood. Adult height is typically below average, with an average height of around 4 feet 8 inches (142 cm).
Another characteristic of Turner Syndrome is delayed or absent puberty. Girls with this condition may not undergo the normal physical changes associated with puberty, such as breast development and menstruation. This is due to the underdevelopment of the ovaries, which can lead to infertility.
A webbed neck, also known as a "pterygium colli," is a common physical feature in individuals with Turner Syndrome. It is characterized by extra folds of skin on the sides of the neck, giving the appearance of a webbed or "winged" neck.
Girls with Turner Syndrome often have a low hairline, where the hairline extends farther down the back of the neck than usual. This can contribute to the appearance of a shorter neck.
Lymphedema, or swelling of the hands and feet, is a common symptom of Turner Syndrome. This swelling is typically present at birth or develops during infancy and may improve over time or persist into adulthood.
Turner Syndrome is associated with an increased risk of cardiovascular abnormalities. Some individuals may have structural defects in the heart, such as coarctation of the aorta (narrowing of the main blood vessel that carries blood from the heart to the body). Regular cardiac evaluations are important for individuals with Turner Syndrome.
Approximately one-third of individuals with Turner Syndrome have kidney abnormalities. These can include structural abnormalities, such as horseshoe kidney (where the two kidneys are fused together), or functional abnormalities that may affect kidney function.
Hearing loss is more common in individuals with Turner Syndrome compared to the general population. It can range from mild to severe and may require the use of hearing aids.
Some girls with Turner Syndrome may experience learning difficulties, particularly in math and spatial skills. They may also have challenges with social interactions and may benefit from additional support and interventions.
In addition to the above-mentioned symptoms, Turner Syndrome can also be associated with other features such as a high-arched palate, drooping eyelids, skeletal abnormalities, autoimmune disorders, and an increased risk of certain health conditions like osteoporosis and thyroid problems.
If Turner Syndrome is suspected, a medical evaluation including a physical examination, genetic testing, and imaging studies may be conducted to confirm the diagnosis. Early detection and appropriate management can help address the associated symptoms and improve the overall quality of life for individuals with Turner Syndrome.