Contributor: Gordon K. Klintworth
Jackson-Weiss syndrome is one of five rare inherited syndromes with craniosynostosis caused by allelic mutations in the FGFR2 gene (others are Crouzon syndrome, Pfeiffer syndrome, Apert syndrome and Beare-Stevenson syndrome). There is a variable limb phenotype that is usually intermediate in severity. Ophthalmic manifestations include proptosis, hypertelorism and strabismus. Most patients with Jackson-Weiss syndrome have mutations in the body of the third immunoglobulin-like domain in exon 7 or exon 9 of FGFR2.