Muenke syndrome is a condition characterized by the premature closure of certain bones of the skull (craniosynostosis) during development, which affects the shape of the head and face.
A particular mutation in the FGFR3 gene causes Muenke syndrome. The FGFR3 gene provides instructions for making a protein that is involved in the development and maintenance of bone and brain tissue. The mutation associated with Muenke syndrome causes the FGFR3 protein to be overly active, which interferes with normal bone growth and allows the bones of the skull to fuse before they should.
Muenke syndrome occurs in about 1 in 30,000 newborns. This condition accounts for an estimated 4 percent of all cases of craniosynostosis.
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.
Published Date: March 01, 2019Published By: National Institutes of Health