Apert Syndrome

Overview

Apert Syndrome is a genetic condition in which the fusion of the bones in the skull, fingers and toes occurs prematurely during embryonic development. This condition is due to mutations in the FGFR2 gene which is responsible for production of a protein called fibroblast growth factor receptor 2. The protein is embedded in the cell membrane where one end is located on the inside of the cell while the other end is on the outside so that it can receive signals from the cell's outside environment. When a growth factor binds to protein, a series of chemical reactions takes place that tells the cell what to do. FGFR2 is responsible for bone growth during embryonic development. For individuals with Apert syndrome, the signaling that the FGFR2 protein receives is delayed causing the bones to fuse prematurely.

Displays the fusion of the bones in the hands, a symptom of Apert syndrome courtesy of wuffin.info.com

Apert Syndrome is autosomal dominant which means that it only takes one parent to pass on this genetic condition to their offspring. Although Apert Syndrome autosomal dominate, only one out of every 65,000 babies are born with this condition, making Apert Syndrome a very rare medical condition.

Symptoms  

Some of the symptoms of Apert Syndrome are:

• A sunken middle face
• Wide-spaced prominent eyes
• A long head with high forehead
• Hearing loss
• Frequent ear infections
• Slow intellectual development (although 1 in 18 have normal IQs)
• Small stature
• Fusion of hands (mitten hands)
• Fusion of feet

A young girl with Apert's Syndrome, courtesy of examiner.com

Treatment

While there is no cure for Apert Syndrome, indi fusionviduals can receive corrective surgery  (craniosynostosis release) that will help correct some of the abnormally fused bones in the skull. Craniosyntosis release is only an option for infants between the ages of 6-8 months. There are also other corrective surgery options such as mid-face advancement or surgery to help bring the individual's eyes closer together (hypertelorism correction).