Crouzon Syndrome Differential Diagnoses

Updated: Jul 23, 2019
  • Author: Amarateedha Prak LeCourt, MD; Chief Editor: Dirk M Elston, MD  more...
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DDx

Diagnostic Considerations

Crouzon syndrome can present with acanthosis nigricans. During genetic testing, if no mutations are identified for FGFR2, a review of mutations on FGFR3 should be conducted. Crouzon syndrome comorbid with acanthosis nigricans typically yields positive results for the latter, while Crouzon syndrome without acanthosis nigricans is associated with the former. [14, 19, 38]

In the course of genetic testing—should either mutations of FGFR2 or FGFR3 be absent—a screening for the interleukin 11 receptor alpha gene (IL11RA) on band 9p21 may prove fruitful. A case study conducted on members of a consanguineous family found evidence that Crouzon-like symptoms could manifest based on mutations in IL11RA. [39]

Differential Diagnoses