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Columbus Clinical Research

99 North Brice Rd, Suite 260
Columbus, OH 43213
P: 614.501.6164
E: info@columbusclinical.com

apert syndrome: Diseases & Medical Conditions Search Results
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apert syndrome - Definition: (Source: MedicineNet)

The best-known type of acrocephalosyndactyly is Apert syndrome which is due to a mutation in the fibroblast growth factor receptor 2 (FGFR2) gene on chromosome 10. Different mutations in FGFR2 are responsible for two other genetic diseases, namely, Pfeiffer syndrome (another type of acrocephalosyndactyly) and Crouzon syndrome (purely a craniofacial disorder with no hand or foot problems). All are dominant traits. ...
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About apert syndrome (Source: eMedicineHealth)
A malformation syndrome characterized by a high short skull, underdevelopment of the midface, soft tissue and bony ("mitten glove") fusion of fingers and toes, fusion of the neck vertebrae, and varying degrees of developmental delay/mental retardation. The frequency of the syndrome rises with the age of the father reflecting the fact that the mutation rate among males rises with their age. Moreover, the mutation that causes Apert syndrome affords the sperm a selective advantage. The mutation is ...
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