Abstract
Uncommon craniosynostosis syndromes, while individually less well characterized than more common conditions such as Apert, Crouzon, Pfeiffer, Muenke, and Saethre-Chotzen syndromes, comprise a significant proportion of craniosynostosis cases when considered in sum. Thirteen of these rare syndromes are covered here with respect to nosology, associated clinical characteristics, and molecular genetics. They were selected for discussion in this chapter due to recent molecular advances therein that can significantly enhance clinicians’ ability to diagnose and counsel patients with these syndromes. The syndromes discussed here include Antley-Bixler syndrome, Baller-Gerold syndrome, Beare-Stevenson cutis gyrata syndrome, Bohring-Opitz syndrome, C (Opitz trigonocephaly) syndrome, Carpenter syndrome, Crouzon syndrome with acanthosis nigricans, Jackson-Weiss syndrome, Jacobsen syndrome, Loeys-Dietz syndrome type I, osteoglophonic dysplasia, P450 oxidoreductase deficiency, and Shprintzen-Goldberg syndrome.
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