SNP Shot: Genomic Insights

Muenke syndrome is a genetic disorder that causes the skull bones to fuse together too early (craniosynostosis) during a baby's development. This premature fusion alters the shape of the head and face.

A common feature of Muenke syndrome is the premature closure of the coronal suture, the seam that runs across the top of the head from ear to ear. Other skull bones can also be affected. These skull changes can lead to an unusual head shape, widely spaced eyes, and flattened cheeks. Around 5% of individuals with Muenke syndrome have an unusually large head (macrocephaly). Some individuals may also exhibit minor abnormalities in their hands or feet, and hearing loss has been reported in certain cases. While most people with Muenke syndrome have normal intelligence, some may experience developmental delays or learning difficulties.

The symptoms of Muenke syndrome can differ significantly from person to person, and some of its characteristics are similar to those of other craniosynostosis syndromes. It's also important to note that a small number of individuals with the Muenke syndrome gene mutation may not show any of the typical signs of the disorder.

Inheritance:

Muenke syndrome follows an autosomal dominant inheritance pattern. This means that only one copy of the altered gene is needed in each cell to cause the condition.