Crouzon syndrome


Are there any other gene mutations that cause Crouzon syndrome?

Only FGFR2 gene mutations are known to be associated with Crouzon syndrome. However, a specific mutation in the FGFR3 gene called p.Ala391Glu, p. A391G, or c.1172C>A causes Crouzon syndrome with acanthosis nigricans. Acanthosis nigricans is a skin condition where the folds and creases in the skin are dark colored (brown to black), thickened, and velvety.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • • DATE UPDATED: 2016-02-26


Mulliken JB, Steinberger D, Kunze S, Muller U. Molecular diagnosis of bilateral coronal synostosis. Plast Reconstr Surg. 1999;104:1603-15. PMID: 10541159.

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