DNA to Diseases: Craniosynostosis BY aasritha Inuganti

Craniosynostosis is a birth defect when there are more than one fibrous joints between the bones of an infant skull and they happen to fuse before the infant's brain is fully formed. This consequently leads to the brain to continue to grow inside and then gives the head a misshapen appearance.

In Craniosynostosis, the gene that the mutation occurs in to cause the disease is has been detected to be the FGFR3 gene. The protein that then is produced from this gene is called the fibroblast growth factor receptor.

Craniosynostosis was first discovered in 1830 by Otto, a German physician and pathologist. Later in 1851, Rudolf Virchow, a German physician developed classifications for the disease.

The overall incidence rate of Craniosynostosis in the US has been estimated between 1 in 2100 and 1 in 2500 births. Worldwide it affects between 1 in 2000 to 2500 live births each year.

Craniosynostosis affects no specific population of people more than others necessarily, but it has been reported to affect males slightly more often than females.This is inferred to be due to males having larger foreheads/skulls.

Notable symptoms of Craniosynostosis include an abnormally shaped skull, an abnormal feeling or disappearing fontanel on the infant's skull, and slowed growth of the head as the infant grows.

Diagnosis of craniosynostosis may include a physical exam where a doctor will feel the infant's head for abnormalities such as suture ridges, and look for facial deformities.CT scans of an infant's skull can also show whether or not any joints have fused. Fused sutures are identifiable by their absence, because they're invisible once fused, or by the ridging of the suture line. Genetic testing is also used to help identify the syndrome.

Treatment for Craniosynostosis is based on the child's age, overall health, and medical history as well as to what extent and type Craniosynostosis is. In most cases surgery is the suggested option. The goal of the treatment is to reduce pressure from the head and heal the deformities.

The prognosis for Craniosynostosis depends on whether a single or multiple cranial sutures are involved, and whether or not other abnormalities are present. For the majority of children with Craniosynostosis, growth and development proceed normally.

Craniosynostosis is most often sporadic, however in families, Craniosynostosis is often through a parent in one of two ways. It is either in autosomal recessive or autosomal dominant. If it were autosomal recessive there would be two copies of the gene each from each parent, the chances of passing them down would be 25 percent. If it were autosomal dominant one parent carries the gene and the chance would be a 50 percent chance to carry to the child.

Lastly, current research based on Craniosynostosis is based on finding methods to treat infants in early stages without surgery, and to make the surgical process better, working towards even replacing the contemporary modalities for treating Craniosynostosis today.


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