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Cognitive Function, Development, and Hearing in Patients with Muenke Syndrome (FGFR3-Related Craniosynostosis)

Muenke Syndrome, which results from an FGFR3 mutation resulting in p. Pro250Arg, is the most common genetic cause of craniosynostosis, with a prevalence of 1 in 30,000 births. Craniosynostosis is the premature fusion of one or more of the skull sutures. Individuals with Muenke syndrome show a wide variety of features, including premature fusion of one or both coronal sutures (sutures found on the side of the skull), hearing loss, developmental delay, intellectual disabilities, macrocephaly (large head size) and radiographic changes. There are also individuals with Muenke syndrome who have no symptoms or signs of this syndrome.

We have ongoing studies at the National Institutes of Health (NIH) that focus on various aspects of Muenke syndrome, and we hope to improve our understanding of hearing, cognitive function, and development in people with Muenke syndrome.

We are currently conducting research on the relationship between development, cognitive function and hearing in individuals with Muenke syndrome. The goal of this study is to better understand the development of the central nervous system as well as to understand the causes of developmental delay and intellectual disabilities that can occur in some individuals with Muenke Syndrome. This study will also help us to learn much about the long term outcomes and functioning of adults with Muenke syndrome. In addition, we also hope to be able to outline factors that may contribute to and predict mental prognosis in individuals with Muenke syndrome. Please note, you do not need to have developmental delay, intellectual disabilities, or hearing loss in order to participate in our study.

To get started:
  • Navigate through the menu on your left to learn more about the study.
  • Log In the application and fill out questionnaires, or
  • Contact Us and someone from our team will do the questionnaires over the telephone with you.

Dr. Maximilian Muenke     Dr. Paul Kruszka     Dr. Maria Guillen Sacoto
301-402-8167     301-402-9654     301-451-7417