Beare-Stevenson cutis gyrata syndrome

Disease Overview

Beare-Stevenson  cutis gyrata syndrome is a genetic condition characterized by skin abnormalities (cutis gyrata, which causes a furrowed and wrinkled appearance, and acanthosis nigricans) and the premature fusion of certain bones of the skull (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face. Beare-Stevenson cutis gyrata syndrome is caused by mutations in the FGFR2 gene. It is inherited in an autosomal dominant pattern, although all reported cases have resulted from new mutations in the gene and occurred in people with no history of the disorder in their family.[8566]

Synonyms

• Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome
• Cutis gyrata - acanthosis nigricans - craniosynostosis
• Cutis Gyrata syndrome of Beare and Stevenson
• Beare stevenson syndrome