Achondroplasia Genetic Disease

Decent Essays

Achondroplasia can be known as dwarfism which is a genetic disease which shows of a disorder in height and bone growth . Achondroplasia is a genetic disease is a cause of Dwarfism. It occurs as a mutation is 80% of cases. It may be inherited autosomal dominant. People with Achondroplasia have a short stature. Identified by an adult 4”10 or under. Achondroplasia can be announced in an ultrasound before your born there is a DNA test. The gene mutation that is responsible for Achondroplasia is FGFR3. It is autosomal passed down from parent if with the abnormal gene. The parent often may have the disease. It can develop from new mutations in the dominant affected gene. FGFR3 is a protein called fibroblast growth factor receptor.
Get Access