Setleis Syndrome synonyms

Setleis Syndrome, also known as lip and palate syndrome 1 or lip and palate syndrome with hypertelorism, is a rare genetic disorder characterized by a combination of facial abnormalities. It is named after the physician who first described it, Dr. William Setleis.

Individuals with Setleis Syndrome typically exhibit a distinct facial appearance, including a cleft lip and/or palate, widely spaced eyes (hypertelorism), and a small nose with a flattened bridge. These facial features can vary in severity among affected individuals.

In addition to the facial abnormalities, Setleis Syndrome may also involve other physical and developmental issues. Some individuals may experience hearing loss, dental problems, and intellectual disabilities. Skin abnormalities, such as dry and scaly skin, have also been reported in some cases.

Setleis Syndrome is caused by mutations in the SETBP1 gene, which plays a role in regulating gene expression and cell growth. This gene mutation is typically inherited in an autosomal dominant manner, meaning that an affected individual has a 50% chance of passing the condition on to their children.

Diagnosis of Setleis Syndrome is based on the clinical presentation of characteristic facial features and may be confirmed through genetic testing. Management of the condition involves a multidisciplinary approach, addressing the specific needs of each individual. This may include surgical interventions to correct cleft lip and/or palate, hearing aids for hearing loss, and early intervention programs to support developmental delays.

While there is currently no cure for Setleis Syndrome, ongoing research aims to further understand the underlying genetic mechanisms and develop potential targeted therapies. Genetic counseling is recommended for individuals and families affected by Setleis Syndrome to understand the risks and inheritance patterns associated with the condition.