Article: Beare-Stevenson cutis gyrata syndrome

What is Beare-Stevenson cutis gyrata syndrome?

Beare-Stevenson cutis gyrata syndrome is a genetic disorder characterized by skin abnormalities and the premature fusion of certain bones of the skull (craniosynostosis), which prevents further growth of the skull and affects the shape of the head and face.

Many of the characteristic facial features of Beare-Stevenson syndrome result from the premature fusion of the skull bones. The head is unable to grow normally, which leads to a misshapen skull, wide-set and bulging eyes, an underdeveloped upper jaw, and ear defects. Newborns with Beare-Stevenson syndrome usually have a large umbilical stump. Skin abnormalities are also characteristic of this disorder. The skin is furrowed, giving it a corrugated appearance (cutis gyrata). Additionally, thick, dark, velvety areas of skin (acanthosis nigricans) are often found on the hands and feet.

How common is Beare-Stevenson cutis gyrata syndrome?

Beare-Stevenson syndrome is a rare genetic disorder; its incidence is unknown.

What genes are related to Beare-Stevenson cutis gyrata syndrome?

Mutations in the FGFR2 gene cause Beare-Stevenson cutis gyrata syndrome.

The FGFR2 gene produces a protein called fibroblast growth factor receptor 2, which plays an important role in signaling a cell to respond to its environment, perhaps by dividing or maturing. A mutation alters the protein and promotes prolonged signaling, which is thought to interfere with skeletal and skin development.

How do people inherit Beare-Stevenson cutis gyrata syndrome?

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene is sufficient to cause the disorder. All reported cases resulted from new mutations in the gene and occurred in people with no history of the disorder in their family.