SNP Shot: Genomic Insights

Beare-Stevenson cutis gyrata syndrome is a genetic condition marked by both skin issues and craniosynostosis, the early fusing of specific skull bones. This premature fusion restricts normal skull growth, altering the head and facial structure.

The distinctive facial features seen in Beare-Stevenson cutis gyrata syndrome largely stem from this premature skull bone fusion. Because the head cannot grow as it should, individuals often develop a cloverleaf-shaped skull, widely spaced and protruding eyes, unusual ear formations, and an underdeveloped upper jaw. Furthermore, the early fusion impacts brain development, often leading to developmental delays and intellectual disability.

The skin abnormality known as cutis gyrata is another hallmark of the syndrome. This gives the skin a deeply folded and wrinkled appearance, especially on the face, around the ears, and on the palms of the hands and soles of the feet. Some individuals also exhibit thick, darkened, velvety patches of skin (acanthosis nigricans) on their hands, feet, and genital area.

Other potential symptoms of Beare-Stevenson cutis gyrata syndrome include blocked nasal passages (choanal atresia), an airway malformation called tracheal cartilaginous sleeve, excessive umbilical stump tissue growth, and genital and anal abnormalities. The health problems associated with Beare-Stevenson cutis gyrata syndrome are frequently severe enough to be life-threatening during infancy or early childhood.

Inheritance:

Beare-Stevenson cutis gyrata syndrome follows an autosomal dominant inheritance pattern. This means that having only one copy of the mutated gene in each cell is enough to cause the syndrome. In all recorded cases, the disorder arises from new gene mutations, appearing in individuals with no prior family history of the condition.