Achondroplasia Major Achondroplasia Achondroplasia is the most common type of short-limbed Aspects of dwarfism. The condition M occurs in 1 in 15,000 Growth to 40,000 newborns. The MAGIC Foundation® In For Children’s Growth Content of this brochure provided by the National Institutes of Health. C hildren Not an illusion or magical, but the caring for children The MAGIC Foundation is a national and their families nonprofit organization created to provide * * * * This brochure is for informational support services for the families of children afflicted with a wide variety of chronic and/or Dedicated to the growth purposes only. Neither The MAGIC critical disorders, syndromes and diseases that Foundation nor the contributing and overall development affect a child’s growth. Some of the diagnoses of children physician assumes any liability for are quite common while others are very rare. its content. Consult your physician for diagnosis and treatment. MAGIC 4200 Cantera Dr., Suite 106 Continues and develops through Warrenville, IL 60555 membership fees, corporate sponsorship, 630-836-8200/fax 630-836-8181 private donations and fundraising. 800-3MAGIC3 “Children have a short time to grow and a www.magicfoundation.org lifetime to live with those results” ® Achondroplasia Achondroplasia is inherited in an complication of achondroplasia is autosomal dominant pattern, which hydrocephalus, which is a building of Is a form of short-limbed dwarfism. The means one copy of the altered gene in fluid in the brain in affected children that word achondroplasia literally means each cell is sufficient to cause the can lead to increased head size and “without cartilage formation.” Cartilage disorder. About 80% of people with related brain abnormalities. is a tough but flexible tissue that makes achondroplasia have average-size Mutations in the FGFR3 gene up much of the skeleton during early parents, these cases result from new FGFR3 development. However, in cause achondroplasia. The gene mutations in the FGR3 gene. In the provides instructions for making a achondroplasia the problem is not in remaining cases, people with forming cartilage but in converting it to protein that is involved in the achondroplasia have inherited an altered development and maintenance of bone bone (a process called ossification), FGR3 gene from one or two affected particularly in the long bones of the arms and brain tissue. Two specific mutations parents. Individuals who inherit two in the FGFR3 gene are responsible for and legs. Achondroplasia is similar to altered copies of this gene typically have another skeletal disorder called almost all cases of achondroplasia. a severe form of achondroplasia that Researchers believe that these mutations hypochondroplasia, but the features of causes extreme shortening of the bones achondroplasia tend to be more severe. cause the FGFR3 protein to be overly and an underdeveloped rib cage. active, which interferes with skeletal All people with achondroplasia have Health problems commonly associated development and leads to the short stature. The average height of an with achondroplasia include episodes in disturbances in bone growth seen with adult male with achondroplasia is 131 which breathing slows or stops for short this disorder. centimeters (4 feet, 4 inches), and the periods (apnea), obesity, and recurrent As new drug applications are in the average height for adult females is 124 ear infections. In childhood, individuals pipeline for achondroplasia, keeping in centimeters (4 feet, 1 inch). Characteristic with the condition usually developed a touch with the MAGIC Foundation will features of achondroplasia include an pronounced and permanent sway of the enable you to follow the progress. The average-size trunk, short arms and legs lower back (lordosis) and bowed legs. goal of new therapy is to lessen the with particularly short upper arms and Some affected people also develop overall complications, not just thighs, limited range of motion at the abnormal front-to-back curvature of the height. Additionally, through the elbows, and an enlarged head spine (kyphosis) and back pain. A foundation, groups are available to (macrocephaly) with a prominent potentially serious complication of communicate with other families of forehead. Fingers are typically short and achondroplasia is spinal stenosis, which children with achondroplasia. the ring finger and middle finger may is a narrowing of the spinal canal that can diverge, giving the hand a three-pronged pinch (compress) the upper part of the (trident) appearance. People with spinal cord. Spinal stenosis is associated achondroplasia are generally of normal with pain, tingling, and weakness in the intelligence. legs that can cause difficulty with walking. Another uncommon but serious