Muenke Syndrome Variant Analysis

Test Background

The sole mutation responsible for Muenke syndrome is c.749C>G/p.Pro250Arg. Features of Muenke syndrome are variable ranging from no clinically apparent abnormalities to a complex combination of findings. The main characteristic is unilateral or bilateral coronal craniosynostosis or megalencephaly without craniosynostosis. Other features may include midface hypoplasia, hypertelorism, carpal-tarsal fusion, brachydactyly, sensorineural hearing loss, and osteochondroma. Intellect ranges from normal to mild intellectual disability. This laboratory performs targeted mutation analysis for the c.749C>G/p.Pro250Arg mutation in the FGFR3 gene.

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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