Muenke syndrome is an autosomal dominant disorder characterized by coronal 
suture craniosynostosis, hearing loss, developmental delay, carpal and tarsal 
fusions, and the presence of the Pro250Arg mutation in the FGFR3 gene. Reduced 
penetrance and variable expressivity contribute to the wide spectrum of clinical 
findings in Muenke syndrome. To better define the clinical features of this 
syndrome, we initiated a study of the natural history of Muenke syndrome. To 
date, we have conducted a standardized evaluation of nine patients with a 
confirmed Pro250Arg mutation in FGFR3. We reviewed audiograms from an additional 
13 patients with Muenke syndrome. A majority of the patients (95%) demonstrated 
a mild-to-moderate, low frequency sensorineural hearing loss. This pattern of 
hearing loss was not previously recognized as characteristic of Muenke syndrome. 
We also report on feeding and swallowing difficulties in children with Muenke 
syndrome. Combining 312 reported cases of Muenke syndrome with data from the 
nine NIH patients, we found that females with the Pro250Arg mutation were 
significantly more likely to be reported with craniosynostosis than males (P < 
0.01). Based on our findings, we propose that the clinical management should 
include audiometric and developmental assessment in addition to standard 
clinical care and appropriate genetic counseling.