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Achondraplasia Impact Factor | Open Access Journals
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Human Genetics & Embryology

ISSN: 2161-0436

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Achondraplasia Impact Factor

Achondroplasia is the most frequently occurring bone growth abnormality (skeletal dysplasia), occurring at about 1 in 20,000-30,000 live births. A modification (mutation) in the fibroblast growth factor receptor 3 (FGFR3) gene causes this genetic disorder. Achondroplasia occurs in roughly 80 percent of patients as a result of a spontaneous genetic mutation; it is inherited from a parent in the remaining 20 percent. This genetic condition is characterized by an exceptionally large head (macrocephalus), low stature (approximately 4 feet high for adults), small upper arms (rhizomelic dwarfism). Achondroplasia usually does not cause intellectual disorders or defects. If the bones that connect the head and neck do not compress the brain or upper spinal cord (craniocervical junction compression), then life expectancy is almost average.

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