7 Symptoms of Turner Syndrome

Turner syndrome, named for Dr. Harry Turner who was one of the first doctors to write about the condition in 1938 medical literature, is a rare chromosomal disorder that effects between 1/2,000 to 1/5,000 females at birth and is seen evenly throughout the world. Turner syndrome occurs when some, or all, of a X chromosome is missing. While most people have a combined total of 46 chromosomes, people with this disorder have 45 chromosomes. The disorder has no genetic component, rarely runs in families, and the exact cause of developing the syndrome remains unknown.

While the condition varies significantly from person to person, the most common traits of Turner Syndrome are shortened stature and loss of ovarian function occurring at an early age, leading to infertility. Diabetes and low thyroid functioning are also common. Additional symptoms may include facial abnormalities, including vision and/or hearing difficulties, webbing of the neck, skeletal malformations, and heart or kidney anomalies. Learning disabilities, most often difficulties with spatial visualization needed for mathematics, may be another consequence of Turner syndrome. However, most patients will have average intelligence.

Most cases of Turner syndrome are diagnosed before or shortly after birth. In some cases, diagnosis of the syndrome has not been reached until adulthood, often as a secondary finding. Women with Turner syndrome are given a life expectancy that is 10 to 12 years shorter than average, but with regular medical care, medications and therapies, quality of life for those with the disorder has significantly improved.

1. Webbed Neck

Of the many symptoms that Turner syndrome patients may exhibit, extra folds of skin on the neck are perhaps the most visibly recognizable. These extra folds of skin, often combined with a low hairline and referred to as the Turner stigmata, are visible in approximately 20% of females diagnosed with Turner syndrome. These folds give the neck a widened, or webbed, appearance. In recent years, Turner syndrome patients have been able to undergo a specific type of surgery called Z-plasty, performed by specialists. The surgery not only helps to contour the neck, but may include complete removal of the extraneous folds, while also correcting the hairline, resulting in a more aesthetically normal appearance.