Affected individuals of Achondroplasia have a disproportionately short stature, large heads with flattened midface and prominent foreheads. Their root limbs, those closer to the body, are usually shorter in stature than the other limbs. People affectred with Achondroplasia generally develop bowed legs and may have in-turned toes. Their hands and feet are generally short and broad, as are their phalanges. Other symtoms are as listed below:

• 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

• Short stature (significantly below the average height for a person of the same age and sex)

• Spinal stenosis

• Spine curvatures called kyphosis and lordosis 

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Achondroplasia is generally diagnosed by physical examination at birth. The diagnosis of achondroplasia can also be made prenatally either by sonogram or by prenatal DNA testing. The physical characteristics of achondroplasia can be detected in the third trimester of a pregnancy. Prior to the last three months of pregnancy, it is difficult to use a sonogram to diagnose achondroplasis because the physical features may not be obvious. Many other dwarfing syndromes can look very similar, sosonograms are primarily used to diagnose dwarfism, not achondroplasia specifically. Prenatal Testing can also be be done using DNA technology. A sample of tissue from a fetus is obtained by either Chorionic Villi Sampling (CVS) or by Amniocentesis.  ^[2]

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