Achondroplasia is a genetic condition that causes disproportionately short stature. achondroplasia means “without cartilage development.” Also known as achondroplastic dimnism or ACH, this condition is rare and has no cure. Those with this condition are able to lead healthy, fulfilling lives if they receive the right treatment.
It is important to learn about Achondroplasia in order to gain a better understanding of the condition, what its origins are, and what those who have been diagnosed can expect. Continue reading to find out more.
Ten facts about Achondroplasia
Achondroplasia is the most common form of skeletal dysplasia.
The average height of an adult male with Achondroplasia is approximately 4’4″ and that of an adult female is approximately 4’1″.
A mutation in the DNA can cause Achondroplasia, but only 1 out of 5 cases is hereditary.
Over 80 % of people with Achondroplasia are born to parents who are not affected.
Achondroplasia is characterized by short stature and problems with the ears, nose, and throat.
Achondroplasia may cause elbow stiffness, sleep apnea, misaligned or crooked teeth, or common ear infections.
Achondroplasia is caused by the bone tissue failing to develop properly, particularly in long bones like arms and legs.
Achondroplasia is usually diagnosed at birth when the characteristics are observed, but an ultrasound scan can also be used to analyze it.
Achondroplasia patients typically live a normal life as long as they are active and healthy.
Achondroplasia treatments are scarce, but some children can benefit from growth hormones.
While Achondroplasia has made significant advances in understanding, there is still much to be learned about this condition and how it affects individuals. Research is being conducted to understand better the causes, symptoms, and lifestyle implications of this condition. Volunteers are vital for the research to progress. Click the link below to learn more about achondroplasia trials currently taking place in your locality.
