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Fibroblast Growth Factor Receptor and Related Skeletal Disorders

  • Chapter
Molecular Pathology in Clinical Practice

Abstract

Osteochondrodysplasias are a heterogeneous group of disorders. To date, more than 450 skeletal conditions have been characterized. Many of the skeletal dysplasias arise during the prenatal period and are able to be diagnosed by ultrasonography. Fibroblast growth factor (FGF) signaling, including the ligands and their receptors, plays an important role in the function of chondrocytes and osteocytes that contribute to bone patterning. Two of the most common types of skeletal dysplasias are achondroplasia and thanatophoric dysplasia, emphasizing the importance of FGF signaling in skeletal development. This chapter focuses on the many distinct skeletal disorders arising from mutations in the FGF receptor (FGFR) family of genes that are responsible for forms of syndromic and non-syndromic craniosynostosis and chondrodysplasias.

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Authors and Affiliations

  1. Department of Genetic and Genomic Sciences, Mount Sinai Genetic Testing Laboratory, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, Box 1497, New York, NY, 10029, USA

    Steven Sperber M.S., Ph.D., F.A.C.M.G.

  2. Department of Pediatrics, Denver Genetic Laboratories, Children’s Hospital Colorado, Aurora, CO, USA

    Elaine Spector Ph.D., F.A.C.M.G.

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  1. Steven Sperber M.S., Ph.D., F.A.C.M.G.
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  2. Elaine Spector Ph.D., F.A.C.M.G.
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Correspondence to Steven Sperber M.S., Ph.D., F.A.C.M.G. .

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  1. Pathology and Laboratory Medicine, University of Vermont College of Medicine and University of Vermont Medical Center, Burlington, Vermont, USA

    Debra G.B. Leonard

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Sperber, S., Spector, E. (2016). Fibroblast Growth Factor Receptor and Related Skeletal Disorders. In: Leonard, D. (eds) Molecular Pathology in Clinical Practice. Springer, Cham. https://doi.org/10.1007/978-3-319-19674-9_12

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  • DOI: https://doi.org/10.1007/978-3-319-19674-9_12

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