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Achondroplasia

Achondroplasia. achon·dro·pla·sia By: Julie Quinty . Description. A disorder of bone growth. A common cause of dwarfism. People with achondroplasia have short stature. Achondroplastic adults are known to be as short as 62.8 cm (24.7 inches) [2 ft 0.7 in].

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Achondroplasia

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  1. Achondroplasia achon·dro·pla·sia By: Julie Quinty

  2. Description • A disorder of bone growth. • A common cause of dwarfism. • People with achondroplasia have short stature. • Achondroplastic adults are known to be as short as 62.8 cm (24.7 inches) [2 ft 0.7 in]. • It occurs as a sporadic mutation in approximately 75% of cases. • The word achondroplasialiterally means "without cartilage formation." • http://en.wikipedia.org/wiki/Achondroplasia

  3. The Cause • caused by mutations in the fibroblast growth factor receptor 3 (FGFR3) gene that inhibits growth of cartilage at the growth plate. • The gene for achondroplasia can be passed from one generation to the next. • If a parent has the disorder, there is a 50% chance of passing the gene for achondroplasia to offspring. • In most cases of achondroplasia (80%-90%), it more commonly is the result of a spontaneous mutation (a sudden genetic defect) that occurs in the developing embryo. • http://www.thirdage.com/hc/c/achondroplasia-causes

  4. Detection: • During pregnancy, a prenatal ultrasound may show excessive amniotic fluid surrounding the unborn infant. • Examination of the infant after birth shows increased front-to-back head size. • X-rays of the long bones can reveal achondroplasia in the newborn. • http://health.nytimes.com/health/guides/disease/achondroplasia/overview.html Detection • Symptoms: • Abnormal hand appearance with persistent space between the long and ring fingers. • Bowed legs. • Decreased muscle tone. • Disproportionately large head-to-body size difference. • Prominent forehead. • Shortened arms and legs (especially the upper arm and thigh) • Short stature (significantly below the average height for a person of the same age and sex) • Spinal stenosis • Spine curvatures called kyphosis and lordosis. http://health.nytimes.com/health/guides/disease/achondroplasia/overview.html

  5. Treatment • At present, there is no known treatment for achondroplasia, even though the cause of the mutation in the growth factor receptor has been found. • If desired, the controversial surgery of limb-lengthening will lengthen the legs and arms of someone with achondroplasia. • Usually, the best results appear within the first and second year of therapy. After the second year of GH therapy, beneficial bone growth decreases. http://en.wikipedia.org/wiki/Achondroplasia

  6. How Common it is.. • The most common type of short-limbed dwarfism. • The condition occurs in 1 in 15,000 to 40,000 newborns. • 80%-90% of people with achondroplasia are born to average height parents with siblings of average height. • Most of the time (80%-90%), it results from a new mutation in a family with no previous history of achondroplasia. • Individuals with achondroplasia may pass it on to their children an average of 50% of the time. http://www.growingstronger.org/frequently-asked-questions.html

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