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SOX9, Campomelic Dysplasia, and Sex Reversal 

SOX9, Campomelic Dysplasia, and Sex Reversal
Chapter:
SOX9, Campomelic Dysplasia, and Sex Reversal
Author(s):

Sahar Mansour

DOI:
10.1093/med/9780199934522.003.0126
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date: 09 March 2021

Campomelic dysplasia (also known as camptomelic dysplasia) (CMD) is a rare, usually lethal skeletal dysplasia. Unlike other forms of skeletal dysplasia, it is frequently associated with XY sex reversal. The gene for this condition, SOX9, was identified in 1994. As suggested by the phenotype in CMD, SOX9 is an important gene, not only in chondrogenesis but also in the sex determination pathway. In this chapter SOX9 and its role in both the sex determination pathway and the cartilage and collagen pathway are discussed. The clinical and radiological features of CMD are described, including the phenotype and complications in survivors with this condition.

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