Beare-Stevenson cutis gyrata syndrome

The craniosynostosis syndromes are a group of disorders sharing the premature fusion of one or more sutures of the skull. Often additional anomalies are associated. There are eight craniosynostosis disorders caused by mutations in three fibroblast growth factor receptor genes: FGFR1, FGFR2 and FGFR3. All are autosomal dominant. Penetrance varies with the specific craniosynostosis type. Many FGFR mutations are associated with advanced paternal age.

Beare-Stevenson cutis gyrata syndrome (BSTVS; MIM 123790) is a rare, severe craniosynostosis syndrome caused by mutations in the FGFR2 gene. There is widespread cutis gyrata (corrugated skin furrows) affecting the scalp, forehead, face neck, trunk, hands and feet, and associated acanthosis nigricans. Additional findings may include midface hypoplasia, skin tags, prominent umbilical stump, accessory nipples, bifid scrotum, prominent labial raphe, rugated labia majora, hypertelorism, a broad nasal bridge, ear defects, cleft palate, hypodontia, chonanal atresia and coccygeal eversion. Intellectual disability is present in all patients.