Craniosynostosis is a disorder in which the fibrous sutures in an infant skull prematurely fuse by turning into bone. This condition causes growth pattern changes and causes infants to have unproportional body part, such as a skull that is too large, large or small arms, and/or proportional legs.
The mutation occurs in the FGFR3 gene, which provides the instructions for producing a protein called fibroblast growth factor receptor 3.
This disease was discovered in 1930 by Otto with help from Rudolph Virchow. The disease was found when 2,000 infants with proportional limbs were analyzed.
The incidence rate of craniosynostosis in the United States is 0.04-0.1%. World-wide, the disease affects 1 out of every 2,000 infants.
Craniosynostosis is usually an inherited mutation from parents, it does not affect any specific population more than others.
The symptoms of this disease include, increased irritability, high-pitched cry, poor feeding, projectile vomiting, increasing head circumference, and seizures.
Craniosynostosis requires evaluation by specialists, such as a pediatric neurosurgeon or plastic surgeon. Diagnosis of craniosynostosis may include: Physical exam.
The disease is treated by a surgery that is carried out by neurosurgeons, the specialized surgeons remove excess, or add excess skull parts, skin, and bones to the skull, face, jaw, and head.
If the disease is treated properly death is very rare, almost no infants pass away directly from this disease. Although, it could cause blindness in the infants.
Craniosynostosis is inherited in one of two ways: Autosomal recessive, and Autosomal dominant. The disease is sporadic, or occurs by only a chance.
Scientists have carried numerous experiments for this disease, and have learned many new things about it leading to the ability to treat the disease. Endoscopic craniosynostosis repair, is just one example of a new treatment.
Mayo Clinic Staff Print. "Craniosynostosis." Diagnosis - Craniosynostosis - Mayo Clinic. N.p., 18 Oct. 2016. Web. 05 Feb. 2017.
"Craniosynostosis Research." Craniosynostosis Research | Craniosynostosis Program | St. Louis Children's Hospital. Childrens Hospital, n.d. Web. 05 Feb. 2017.
"Craniosynostosis - Treatment." NHS Choices. Department of Health, n.d. Web. 05 Feb. 2017.
"Craniosynostosis." Children's Hospital Colorado. Childrens Colorado, n.d. Web. 05 Feb. 2017.