Clinical Study of Muenke Syndrome (FGFR3-Related Craniosynostosis)

Inclusion Criteria

• •Subjects who have had confirmation of a Pro250Arg mutation in FGFR3 by a CLIA-certified laboratory. Our research team must receive a photocopy of the positive test result in order to enroll a patient in the study. All races and genders are known to be at risk for Muenke syndrome. Nationality or place of origin is not a specific barrier to participation.
• •Family members (typically parents or siblings) of probands with Muenke syndrome are also eligible to participate.
• •Since the penetrance of Muenke syndrome is incomplete, any at risk individual will be given the option of enrolling in the research study for FGFR3 testing. Those individuals who are found to carry the p.Pro250Arg mutation may benefit from interventions like hearing screening or speech evaluations that would alter their medical management. Variable expressivity is another characteristic of Muenke syndrome and carrier status and adequate genetic counseling are important. Individuals with the mutation will be invited to participate in the clinical and/or medical record review arms of the study
• •Unaffected family members of a proband enrolled in the clinical protocol may choose to provide a blood sample and/or participate in the behavioral arm of the study. These information will be used only for purposes of further research on Muenke syndrome.
• •Patient of interest cases. Geneticists and genetic counselors may refer individuals who are suspected to have Muenke syndrome, but who have not yet been tested for the FGFR3 Pro250Arg mutation. The purpose of enrolling these subjects is to evaluate a wider spectrum of patients for the mutation causing Muenke syndrome. Testing for the Pro250Arg mutation maybe performed at the discretion of our research group. Those individuals who are found to carry the Pro250 Arg mutation may be invited to participate in the study. Individuals who do not carry the mutation but that have an affected first degree family member will be invited to participate in the
• •genomic and/or survey arm of the study.