Setleis syndrome
Setleis Syndrome
Setleis Syndrome (pronounced: set-lies sin-drome) is a rare genetic disorder characterized by distinctive facial features and skin abnormalities. The syndrome is named after the physicians who first described it, Dr. Theodore Setleis and his colleagues, in 1969.
Etymology
The term "Setleis Syndrome" is derived from the name of Dr. Theodore Setleis, who along with his team, first identified and described the condition in 1969. The term "syndrome" is derived from the Greek word "syndromē", which means "concurrence of symptoms, concourse of people".
Symptoms
The primary symptoms of Setleis Syndrome include bitemporal scar, eyelid abnormalities, and skin abnormalities. Other symptoms may include facial asymmetry, premature aging, and hair loss.
Causes
Setleis Syndrome is caused by mutations in the TWIST2 gene. This gene provides instructions for making a protein that plays a crucial role in the development of the skin, hair, and certain tissues.
Diagnosis
Diagnosis of Setleis Syndrome is typically based on the presence of characteristic symptoms. Genetic testing can confirm the diagnosis.
Treatment
There is currently no cure for Setleis Syndrome. Treatment is symptomatic and supportive, and may include surgery to correct eyelid abnormalities and dermatological treatments for skin abnormalities.
Prognosis
The prognosis for individuals with Setleis Syndrome varies. While the condition does not typically affect lifespan, it can significantly impact quality of life due to its physical manifestations.
See Also
References
External links
- Medical encyclopedia article on Setleis syndrome
- Wikipedia's article - Setleis syndrome
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