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INTERNATIONAL JOURNAL OF CREATIVE RESEARCH THOUGHTS - IJCRT (IJCRT.ORG)
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Authors
R. Bhavani
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Keywords
Apert syndrome, Fibroblast growth factor, Craniosynostosis, FGFR2
Abstract
Apert syndrome is a genetic disorder characterized by skeletal abnormalities. Apert syndrome is the premature closure of the bones of the skull (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face. Mutations in a gene known as FGFR2 cause Apert syndrome. This gene provides instructions for making a protein called fibroblast growth factor receptor 2 (FGFR2). The abnormal signaling causes the cell to mature too quickly and promotes the premature fusion of bones in the skull, hands, and feet. Apert syndrome have syndactyly of the fingers and toes. The severity of the fusion varies, although the hands tend to be more severely affected than the feet. Most commonly, three digits on each hand and foot are fused together. Genetic testing can usually identify Apert syndrome or another cause of abnormal skull formation. Apert syndrome has no known cure. Surgery to correct the abnormal connections between bones is the main treatment for Apert syndrome.
IJCRT's Publication Details
Unique Identification Number - IJCRT2208055
Paper ID - 223889
Author type - Indian Author
Page Number(s) - a427-a428
Pubished in - Volume 10 | Issue 8 | August 2022
DOI (Digital Object Identifier) -
No Of Downloads - 168
Author Country - India, 600117, Chennai, Chennai, 600117, Humanities All
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R. Bhavani, "APERT SYNDROME", International Journal of Creative Research Thoughts (IJCRT), ISSN:2320-2882, Volume.10, Issue 8, pp.a427-a428, August 2022, Available at :http://www.ijcrt.org/papers/IJCRT2208055.pdf
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ISSN: 2320-2882 Impact Factor: 7.97 and ISSN APPROVED Journal Starting Year (ESTD) : 2013
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ISSN: 2320-2882 Impact Factor: 7.97 and ISSN APPROVED Journal Starting Year (ESTD) : 2013
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