Ava Marzo

Mrs. Murray

Honors Anatomy and Physiology

3 December 2018

Craniosynostosis

The human body’s bone formation is one of the most fascinating and advanced systems

in the modern world. Unfortunately, the sheer amazing power of the human body can also have a

hiccups in what it is supposed to compete. These breaks in the normal, while sometimes do not

cause much, other times are the reason behind severe defects and many diseases. One of these

conditions is Craniosynostosis, or the condition where a suture in a skull closes too early which

results in skull or facial deformities.

Craniosynostosis is rare with less than 200,000 cases each year, however the condition is

more prevalent in males than in females. Craniosynostosis occurs when a newborn’s sutures

close prematurely. Since the sutures usually close in infancy the premature closer causes extreme

pressure to be placed on the brain and the skull since it has not completely developed. The

extreme pressure is what causes the head and face deformities. The disease is caused by either an

autosomal recessive gene or an autosomal dominant gene. In the recessive gene there is a 25%

chance of the child having the disease, but in an autosomal dominant gene case the risk increases

to abut 50%.

There are three different types of Craniosynostosis: Plagiocephaly, Trigonocephaly, and

Scaphocephaly. Plagiocephaly is where the coronal suture fuses on either side of the skull

causing the forehead and the brow to stop growing. Because of this fusion the brow and the
forehead can become flat and it also leads to eye socket issues. Plagiocephaly is also the most

common of the different types of Craniosynostosis. Trigonocephaly occurs when the suture on

the forehead closes prematurely and can cause a misshapen forehead and eye issues. Lastly,

Plagiocephaly is when the sagittal suture closes prematurely and results in the skull becoming

narrower in between the ears.

The main symptoms that occur with Craniosynostosis are bulging parts of the head and

veins, irritability, projectile vomiting, a larger head size, seizures, and bulging eyes.

“Craniosynostosis may be congenital (present at birth) or may be observed later, during a

physical examination. The diagnosis is made after a thorough physical examination and after

diagnostic testing.”(Columbia Univeristy Medical Center). If the condition isn't clear both CAT

scans and x-rays of the head may be preformed to confirm that a child does in fact have

Craniosynostosis.

Craniosynostosis can be treated and cured in multiple ways. The main way is through

surgeries. The surgeries are usually preformed in order to fix deformities and to remove

pressures in the brain. The surgeries have to be completed before a child is a year old in order to

have successful results. The surgery cannot be preformed later because the bone must still be

malleable for proper results. According to the Mayo Clinic, “Although neurological damage can

occur in severe cases, most children have normal cognitive development and achieve good

cosmetic results after surgery.” Overall, once the condition is cured there are few prolonged

effects.

Currently there is research concerning Craniosynostosis. Researches are looking into

gene editing in order to combat the issue. A Cunningham Lab study is, “finding biological
pathways that can be changed in order to treat and prevent Craniosynostosis.”(Seattle Children’s

Hospital). The action of gene editing will allow these children to be born without the condition

or help to cure it efficiently once they are born.

Overall, Craniosynostosis is a disease that effects both newborns and their families with

the premature fusion of sutures. Craniosynostosis is in most cases non-fatal and many surgeries

can be completed to fix deformities and ensure a quality life for the child.
 Works Cited

“Craniosynostosis Research.” Hemophilia | Seattle Children's Hospital,

www.seattlechildrens.org/clinics/craniofacial/research-and-clinical-trials/craniosynostosis/.

“Craniosynostosis.” Mayo Clinic, Mayo Foundation for Medical Education and Research, 20

Nov. 2018, www.mayoclinic.org/diseases-conditions/craniosynostosis/symptoms-causes/

syc-20354513.

“Craniosynostosis.” Neurology, columbianeurology.org/neurology/staywell/document.php?

id=36854.