Setleis Syndrome is a rare genetic disorder characterized by distinctive facial features and skin abnormalities. It is caused by mutations in the SETBP1 gene. The syndrome is typically inherited in an autosomal dominant manner, which means that an affected individual has a 50% chance of passing the condition on to each of their children. Genetic counseling and testing are recommended for families with a history of Setleis Syndrome to assess the risk of inheritance.
Setleis Syndrome is a rare genetic disorder that affects the development of the face and skin. It is characterized by distinctive facial features, such as a small mouth, a thin upper lip, and a small chin. Additionally, individuals with Setleis Syndrome may have sparse or absent eyebrows and eyelashes, as well as abnormalities of the skin, such as scar-like lesions.
The inheritance pattern of Setleis Syndrome is not yet fully understood. However, it is believed to be hereditary in some cases. Research suggests that the condition may be inherited in an autosomal dominant manner, which means that an affected individual has a 50% chance of passing the condition on to each of their children.
It is important to note that not all cases of Setleis Syndrome are inherited. Some individuals may have the condition due to spontaneous genetic mutations that occur during the formation of reproductive cells or early embryonic development. These cases are not passed down from parents to their children.
Genetic counseling is recommended for individuals with Setleis Syndrome or a family history of the condition. A genetic counselor can provide information about the specific inheritance pattern in a particular family and discuss the risks of passing the condition on to future generations.