Fibrodysplasia Ossificans Progressiva — Lessons from Rare Maladies

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Abstract
Just as the study of rare inborn errors of metabolism has yielded important insights into normal metabolic pathways, the study of rare genetic defects can help define the roles of cellular morphogens and their receptors. The recent demonstration of mutations of fibroblast growth factor receptors in patients with several inherited forms of craniosynostosis is an example.1 In this issue of the Journal, Shafritz et al.2 describe the overexpression of a bone morphogenetic protein in patients with the rare inherited form of ectopic ossification known as fibrodysplasia ossificans progressiva. They suggest that their findings can provide insight into the normal biology . . .