Setleis Syndrome is a very rare genetic condition that primarily affects facial development and skin appearance. This disorder is present at birth, meaning it is congenital, and is characterized by a distinctive facial presentation. Understanding such uncommon conditions is important for early recognition and appropriate management.
What is Setleis Syndrome?
Setleis Syndrome is classified as a focal facial dermal dysplasia, specifically known as type III. This condition causes distinctive facial features that are typically noticeable at birth. It was first identified and described by Setleis in 1993, which is where the syndrome gets its name. The disorder involves abnormalities of the facial area, giving affected individuals a unique appearance.
Individuals with Setleis Syndrome often present with a characteristic “mask-like” or “leonine” facial appearance. This look is due to unusual skin texture and facial structure.
Genetic Roots
Setleis Syndrome arises from mutations within the TWIST2 gene. This gene plays a role in the development of various tissues, particularly those involved in craniofacial structures.
The inheritance pattern for Setleis Syndrome is typically autosomal recessive. This means that an individual must inherit two copies of the mutated TWIST2 gene—one from each parent—to develop the syndrome. Parents who carry one copy of the mutated gene usually do not show symptoms themselves. The TWIST2 gene’s disruption can lead to issues like hypoplasia of the corium and subcutaneous fat, contributing to the skin and facial features seen in the syndrome.
Recognizing the Signs
A hallmark feature includes scar-like depressions on both sides of the forehead, often resembling marks from obstetric forceps. The skin around the eyes may appear puffy, wrinkled, or puckered, a feature sometimes described as cutis gyrata.
Individuals often have absent or sparse eyelashes, though in some cases, multiple rows of eyelashes in the upper eyelid may be present while lower ones are missing. Eyebrows can also be sparse, thin, or slant vertically upward. The nose typically presents with a prominent, bulbous tip and a flattened bridge.
Other common facial characteristics include a small mouth, sometimes with thick or protruding lips, and potential chin defects such as dimples or grooves. The overall facial skin may exhibit redundancy, leading to a loose or saggy appearance. Dental abnormalities, such as conical teeth, have also been noted.
Diagnosis and Care
Diagnosis of Setleis Syndrome typically begins with a clinical examination based on the observation of these distinctive facial features. To confirm the diagnosis, genetic testing is performed to identify mutations in the TWIST2 gene.
Management and care for individuals with Setleis Syndrome are primarily supportive, focusing on addressing specific symptoms as they arise. A multidisciplinary team approach is often employed, involving specialists such as pediatricians, geneticists, ophthalmologists, plastic surgeons, and dentists. While intelligence is generally unaffected, some reports indicate mild psychomotor delays or learning difficulties in certain cases. Treatment may include plastic surgery to correct some of the facial features, aiming to improve quality of life and manage physical challenges. Regular follow-ups with specialists help to enhance long-term outcomes.