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Scholars International Journal of Biochemistry (SIJB)
Volume-2 | Issue-12 | 297-301
Review Article
Carpenter Syndrome—A Genetic Disease
Dr. Anil Batta
Published : Dec. 28, 2019
DOI : 10.36348/sijb.2019.v02i12.005
Abstract
Carpenter syndrome is a condition characterized by the premature fusion of certain skull bones (craniosynostosis), abnormalities of the fingers and toes, and other developmental problems. Craniosynostosis prevents the skull from growing normally, frequently giving the head a pointed appearance (acrocephaly). Mutated genes cause Carpenter syndrome, and they are passed from parent to child during fetal development. These genes cause the coronal (from ear to ear) and sagittal (top of head, front to back) sutures to fuse together prematurely (craniosynostosis). Treatment of Carpenter syndrome depends on the symptoms the individual has and the severity of the condition. Surgery may be needed if a life-threatening heart defect is present. Surgery may also be used to correct craniosynostosis by separating the abnormally fused skull bones to allow for growth of the head. Craniosynostosis prevents the skull from growing normally, frequently giving the head a pointed appearance (acrocephaly). In severely affected individuals, the abnormal fusion of the skull bones results in a deformity called a cloverleaf skull. Craniosynostosis can cause differences between the two sides of the head and face (craniofacial asymmetry). Early fusion of the skull bones can affect the development of the brain and lead to increased pressure within the skull (intracranial pressure). Premature fusion of the skull bones can cause several characteristic facial features in people with Carpenter syndrome. Distinctive facial features may include a flat nasal bridge, outside corners of the eyes that point downward (down-slanting palpebral fissures), low-set and abnormally shaped ears, underdeveloped upper and lower jaws, and abnormal eye shape. Some affected individuals also have dental abnormalities including small primary (baby) teeth. Vision problems also frequently occur.Abnormalities of the fingers and toes include fusion of the skin between two or more fingers or toes (cutaneous syndactyly), unusua
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