Beare–Stevenson cutis gyrata syndrome


Beare–Stevenson cutis gyrata syndrome is a rare genetic disorder characterized by craniosynostosis and a specific skin abnormality, called cutis gyrata, characterized by a furrowed and wrinkled appearance ; thick, dark, velvety areas of skin are sometimes found on the hands and feet and in the groin.

Presentation

Signs and symptoms of Beare–Stevenson cutis gyrata syndrome can include a blockage of the nasal passages, overgrowth of the umbilical stump, and abnormalities of the genitalia and anus. The medical complications associated with this condition are often severe and may well be life-threatening in infancy or early childhood.

Genetics

Several mutations in the FGFR2 gene are known to cause Beare–Stevenson cutis gyrata syndrome; however, not all patients with the condition have a mutation in their FGFR2 gene. Any alternative underlying causes are currently unidentified. The syndrome follows an autosomal dominant pattern, meaning that if one of the two available genes carries a mutation the syndrome will result. Currently, no familial histories are known.

Diagnosis

Treatment

Incidence

Beare–Stevenson cutis gyrata syndrome is so rare that a reliable incidence cannot be established as of yet; fewer than 25 patients with the condition have been reported.