What is Setleis Syndrome

Setleis Syndrome is a rare genetic disorder that primarily affects the skin, hair, and facial features. It is characterized by distinctive facial features including a small nose, thin upper lip, and a narrow mouth. Individuals with Setleis Syndrome may also have sparse or absent eyebrows and eyelashes, as well as abnormalities in the skin such as dryness, scarring, or thickening.

Setleis Syndrome is caused by mutations in the SETBP1 gene, which plays a role in the development and maintenance of various tissues in the body. The exact mechanism by which these mutations lead to the specific features of Setleis Syndrome is not fully understood.

Aside from the physical characteristics, individuals with Setleis Syndrome may also experience other health issues such as developmental delays, intellectual disability, and vision problems. The severity of symptoms can vary widely among affected individuals.

As Setleis Syndrome is a rare condition, there is currently no cure. Treatment mainly focuses on managing the specific symptoms and providing supportive care. Genetic counseling may be beneficial for families affected by Setleis Syndrome to understand the inheritance pattern and potential risks for future generations.