Turner–Kieser syndrome

Turner–Kieser syndrome is a rare genetic disorder characterized by a variety of physical abnormalities. The syndrome is named after the two physicians who first described it, Dr. Henry Turner and Dr. Werner Kieser.

Symptoms and Signs

The symptoms of Turner–Kieser syndrome can vary greatly from person to person. However, common symptoms include short stature, webbed neck, low-set ears, and lymphedema (swelling) of the hands and feet. Some individuals may also have a low hairline at the back of the neck and a broad chest with widely spaced nipples.

Causes

Turner–Kieser syndrome is caused by a partial or complete loss (monosomy) of the second sex chromosome. This can occur in one of three ways: complete monosomy, mosaicism, or partial monosomy. In complete monosomy, an individual's cells are missing one of the two sex chromosomes. In mosaicism, some cells have two sex chromosomes while others have only one. In partial monosomy, part of one of the sex chromosomes is missing.

Diagnosis

Diagnosis of Turner–Kieser syndrome is typically made through a combination of clinical examination and genetic testing. The physical symptoms of the syndrome can often suggest the diagnosis, which can then be confirmed through genetic testing.

Treatment

There is currently no cure for Turner–Kieser syndrome. Treatment is symptomatic and supportive, and may include hormone therapy to promote growth and sexual development, as well as physical therapy to address lymphedema. Regular monitoring and management of potential health complications, such as heart and kidney problems, is also important.

Prognosis

The prognosis for individuals with Turner–Kieser syndrome varies depending on the severity of symptoms and the presence of additional health complications. However, with appropriate management and care, many individuals with the syndrome can lead healthy, productive lives.

See also

• Genetic disorder
• Monosomy
• Mosaicism

NIH genetic and rare disease info

• NIH info on Turner–Kieser syndrome

Turner–Kieser syndrome is a rare disease.

Turner–Kieser syndrome Resources
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