Beare-Stevenson (cutis gyrata) syndrome

Beare-Stevenson syndrome is a relatively rare craniosynostosis syndrome, exhibiting characteristic skin anomalies (tags), acanthosis nigricans and cutis gyrata (thickened skin folds), while mental retardation is invariably present. As all other similar syndromes, it is an autosomal dominant genetic disease, caused almost exclusively by de novo mutations in the FGFR2 gene. Advanced paternal age has been shown clinically to be associated with de novo mutations for Crouzon syndromeApert syndrome, Pfeiffer syndrome and Muenke syndrome.

We perform automated bi-directional fluorescent DNA sequencing of exons 8 and 10 of the FGFR2 gene, allowing for the detection of more than 90% of pathological mutations for the disorder.