Contributor: Gordon K. Klintworth
Beare-Stevenson syndrome is an inherited syndrome with craniosynostosis, limb and cutaneous abnormalities (cutis gyrata, acanthosis nigrans). Ophthalmic manifestations of Beare-Stevenson syndrome include ptosis, antimongoloid slant, epicanthal folds, hypertelorism, strabismus, and a brow irregularity. Beare-Stevenson syndrome is one of five syndromes with craniosynostosis caused by allelic mutations in the FGFR2 gene (others are Crouzon syndrome, Pfeiffer syndrome, Jackson-Weiss syndrome and Apert syndrome ). The mutations in the Beare-Stevenson syndrome have substitutions to cysteine in the extracellular juxtamembrane region.