Muenke syndrome

Osseous Deformity Case 1

Muenke syndrome is a genetic disorder characterized by the premature fusion of certain bones in the skull, a condition known as craniosynostosis. This early fusion prevents the skull from growing normally and affects the shape of the head and face. Muenke syndrome is named after the German geneticist Maximilian Muenke, who first described the condition.

Genetics

Muenke syndrome is caused by a specific mutation in the FGFR3 gene, which provides instructions for making a protein involved in the development and maintenance of bone and brain tissue. The mutation responsible for Muenke syndrome is a single nucleotide change, which leads to the substitution of the amino acid proline with arginine at position 250 (Pro250Arg or P250R). This mutation is inherited in an autosomal dominant pattern, meaning one copy of the altered gene in each cell is sufficient to cause the disorder.

Symptoms

The symptoms of Muenke syndrome can vary widely among affected individuals. Common features include:

• Craniosynostosis, particularly of the coronal sutures
• Abnormal head shape, such as a wide-set eyes (hypertelorism) and a flattened midface
• Hearing loss
• Developmental delays and learning disabilities in some cases

Diagnosis

Diagnosis of Muenke syndrome is typically based on clinical evaluation, family history, and genetic testing to identify the FGFR3 mutation. Imaging studies such as CT scans or MRIs may be used to assess the extent of craniosynostosis and other skeletal abnormalities.

Treatment

Treatment for Muenke syndrome often involves surgical intervention to correct craniosynostosis and to allow for normal brain and skull growth. Additional treatments may include hearing aids for hearing loss and educational support for developmental delays.

Prognosis

The prognosis for individuals with Muenke syndrome varies depending on the severity of symptoms and the success of surgical interventions. With appropriate medical care, many individuals can lead normal lives.

Related Pages

• Craniosynostosis
• FGFR3
• Autosomal dominant
• Genetic mutation
• Maximilian Muenke