Detailed Study of Clinical Manifestations in Muenke Syndrome (FGFR3-Related Craniosynostosis)

Muenke Syndrome, a specific form of craniosynostosis, is a condition where a baby's skull bones fuse prematurely. This can lead to various health issues such as coronal suture craniosynostosis, developmental delay, deafness, and carpal and tarsal bone fusion. This study aims to deepen our understanding of Muenke Syndrome's clinical manifestations to improve early diagnosis and clinical management, including genetic counseling. The study focuses on individuals with Muenke Syndrome and plans to enroll approximately 10-20 probands, along with their family members each year, with a maximum enrollment of 200 probands. The study is observational and has three main parts. The first part involves detailed physical, developmental, neurologic, dental, ophthalmologic, otolaryngologic, audiologic, radiologic, and genetic/genomic studies at the NIH Clinical Center and Children's National Medical Center. The second part is a genetic/genomic study aiming to investigate factors that influence the severity and expression of the disease. The third part is a cognitive function, development, and hearing questionnaire that patients can complete online, via phone, or by mail. The primary outcome of this study is to enhance our understanding of the genetics and clinical characteristics of Muenke Syndrome.