Crouzon Syndrome with Acanthosis Nigricans Variant Analysis

Test Background

Crouzon syndrome with ancanthosis nigricans is characterized by proptosis, strabismus, mandibular prognathism, and pigmentary changes in the regions of skin folds (acanthosis nigricans) among other features. Intellect is typically unaffected. Extremities are also typically unaffected although radiographic images may identify metacarpal-phalangeal shortening. A majority of cases are due to a specific missense variant c.1172C>A/p.Ala391Glu. If a diagnosis of Crouzon syndrome with ancanthosis nigricans is still suspected following a negative test, more comprehensive sequence analysis is available at other laboratories.

Gene(s)

FGFR3

About Claritas

Claritas Genomics serves children affected with complex genetic disorders by providing timely and accurate results, resolving families’ long search for answers. By combining clinical expertise of the world’s best pediatric specialists with innovative platform solutions, Claritas is working to improve patient care and enable new discoveries. We are committed to the highest quality and accessibility of information and our interpretive services and unique approach to reporting set the standard for reliably and clearly communicating genetic information.

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