Frontometaphyseal dysplasia

Definition:

Frontometaphyseal dysplasia (FMD) is a progressive sclerosing skeletal dysplasia affecting the long bones and skull. The cause of FMD in some individuals is mutations in the X-linked gene, FLNA. Recently, it has been reported that mutations in MAP3K7 that alter the activity of the TAK1 signaling complex cause FMD.

References:

[1]. Emma M Wade, et al. Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia. Am J Hum Genet. 2016 Aug 4;99(2):392-406. [Content Brief]

[2]. Stephen P Robertson, et al. Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity. Am J Med Genet A. 2006 Aug 15;140(16):1726-36. [Content Brief]

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