meaning of Apert syndrome

Apert syndrome meaning in Medical Dictionary

A malformation problem described as a high short head, underdevelopment associated with the midface, soft structure and bony ("mitten glove") fusion of hands and feet, fusion of throat vertebrae, and varying levels of developmental delay/mental retardation. The regularity regarding the syndrome rises with all the chronilogical age of the father reflecting the fact the mutation price among guys increases due to their age. More over, the mutation that creates Apert syndrome affords the sperm a selective advantage. The mutation is within the gene for fibroblast development aspect receptor 2 (FGFR2) on chromosome 10. Various mutations in FGFR2 are accountable for two various other similar genetic diseases, specifically, Pfeiffer problem and Crouzon problem. See also: Acrocephalosyndactyly.