Achondroplasia: Introduction
- Achondroplasia is a genetic disorder characterized by underdevelopment of bones, particularly the long bones of the body leading to dwarfism. The word ‘achondroplasia’ literally means ‘without cartilage formation’. However, the problem with the condition is not with cartilage formation, but with conversion of cartilage to bones, a process called ossification. Achondroplasia is caused by a mutation in the fibroblast growth factor receptor 3 (FGFR3) gene that results in its protein being overactive. The disorder has an autosomal dominant mode of inheritance; meaning only one mutated copy of the gene is required for the condition to occur. Achondroplasia is also the most common form of dwarfism. The condition is known to affect 1 in 15,000 to 40,000 newborns.
- Achondroplasia is characterized by short arms and legs, but typically a normal length torso. The average adult height of those affected ranges from 4 ft to 4.4 ft. Other common features include short arms and legs, average-size trunk, an enlarged head, and a prominent or protruding forehead. The complications or risk factors associated include breathing difficulties such as sleep apnea, obesity, spinal stenosis, and recurrent ear infections. The disorder does not generally affect intelligence.
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