Achondroplasia

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Achondroplasia is a bone growth disorder and form of short-limbed dwarfism. It is the most common cause of disproportionate short stature. Achondroplasia is caused by a gene mutation of the FGFR3 gene and can interfere with this gene’s role in converting cartilage to bone. This disorder affects one in every 15-40,000 live births and can be inherited from a parent with achondroplasia, though most people with the disorder have average-sized parents.

Other than short stature and disproportionately short limbs, symptoms of achondroplasia can include breathing problems, severe muscle weakness (hyptonia), propensity for obesity and recurrent ear infections. Adult with the disorder may develop bowed legs and a sway in the lower back (lordosis). These particular symptoms may contribute to difficulty with walking and lower back pain.

Achondroplasia is diagnosed by doing genetic testing for gene mutation in clinical laboratories. It can also be diagnosed by typical clinical and X-ray findings. Though there is no specific treatment for achondroplasia, children born with the disorder need to have their height, weight and head circumference checked periodically using special growth curves standardized for achondroplasia. Additionally children should receive extra support and monitoring for social adjustment.

Rare disease organizations exist to provide support and resources to individuals and family members impacted by disorders like achondroplasia.

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