Achondroplasia in children is the most common form of dwarfism; it accounts for about 70% of all cases of dwarfism.[1] Achondroplasia falls into the category of “disproportionate dwarfism”. It is linked to a mutation in the fibroblast growth factor receptor-3. More than 250,000 people in the world are diagnosed with achondroplasia. Achondroplasia diagnosis occurs somewhere between one in every 10,000 and one in every 30,000 live births.[2]
Some symptoms of achondroplasia are short stature, a long and narrow trunk, shortening of the proximal segments of limbs, large head, mid-face hypoplasia, and joint hyperextension, among others. Achondroplasia is defined by central nervous system defects as well as the prior physical symptoms. Average height for an adult man or woman diagnosed with achondroplasia is about 120 centimeters (47.2 inches), although technically a maximum of 148 centimeters (58.2 inches) is also considered achondroplastic.[3] Achondroplastic people typically have a long trunk and smaller upper legs and upper arms. Achondroplastic people of normal intelligence are able to lead independent and productive lives.
^Ednick, Matthew, Brad T. Tinkle, Jungrak Phromchairak, John Egelhoff, Raouf Amin, Narong Simakajornboon. "Sleep-Related Respiratory Abnormalities and Arousal Pattern in Achondroplasia During Early Infancy." The Journal of Pediatrics 155.4 (2009): 510-515.
^Horton, William A., Judith G. Hall, Jacqueline T. Hecht. "Achondroplasia." The Lancet 370.9582 (2007): 162-172.
^Trotter, Tracy L., Judith G. Hall. "Health Supervision for Children with Achondroplasia" Pediatrics. 116.3 (2005): 771–783
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