Genetic mutations: Muenke syndrome is caused by a mutation or defect in the FGFR3 gene. This gene provides instructions for making the fibroblast growth factor receptor 3 protein, which is essential to normal development and maintenance of the brain and bones. In Muenke syndrome, this protein is overactive, causing abnormal bone growth and development.
Autosomal dominant inheritance: Muenke syndrome is inherited, or passed down from parent to child, as a dominant trait. Individuals receive two copies of most genes, one from the mother and one from the father. For a dominant disorder to appear, only one defective copy of the FGFR3 gene is necessary. If one parent has the disorder, there is a 50% chance that his or her child will have the disorder. If both parents have the disorder, there is a 75% chance that their child will have the disorder.
Random occurrence: In some cases, Muenke syndrome is present in individuals with no family history of the disorder. This occurs as the result of a spontaneous genetic mutation in the egg or sperm cells or in the developing embryo.
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