How to Treat Apert Syndrome?

What is Apert Syndrome?

Apert Syndrome, an uncommon genetic disorder, is distinguished by the premature fusion of specific skull bones, leading to unique facial and cranial features. Mutations in the FGFR2 gene are responsible for this condition, and it typically arises sporadically rather than being inherited from parents. The impact of Apert Syndrome extends to various parts of the body, including the skull, face, hands, and feet. The fusion of skull bones gives rise to a distinctive head shape, characterized by height and a peaked appearance, coupled with a high forehead and a flattened face.

The diagnosis of Apert Syndrome involves a thorough examination of specific regions in a child's body, encompassing the skull's apex, facial structure displaying irregular bone formation, and extremities where fingers and toes may be connected or webbed. This genetic disorder adheres to an autosomal dominant pattern, indicating that if a parent carries the condition in their genes, there is a likelihood of passing it on to their child.

Why Does Apert Syndrome Occur?

Apert Syndrome is primarily caused by mutations in the FGFR2 gene, which is responsible for the production of a protein involved in the development of bones and tissues. The specific mutations in this gene lead to the premature fusion of certain skull bones, affecting the normal growth and development of the head and face. While the exact reason for these mutations is often unclear, they are considered spontaneous and not typically passed down from parents.