Dwarfism

Achondroplasia is a type of genetic disorder that is a common cause of dwarfism. People with this condition have short stature, usually reaching a full adult height of around 4'0".  This condition occurs at a frequency of about 1 in 15,000-40,000 births. Achondroplasia also occurs in all races with equal frequency in males and females.

The disorder is a result of an autosomal dominant mutation in the fibroblast growth factor receptor gene 3, which causes an abnormality of cartilage formation. FGFR3 normally has a negative regulatory effect on bone growth. In achondroplasia, the mutated form of the receptor is constitutively active and this leads to severely shortened bones.

Achondroplasia can be detected before birth by the use of prenatal ultrasound. A DNA test can be performed before birth to detect homozygosity, where two copies of the mutant gene are inherited, a condition which is lethal and leads to stillbirths.

Growth hormone (GH) therapy has been proposed as a possible treatment for the short stature of achondroplasia. However, the people who participated in the studies on the subject have not yet reached adult size, so this type of therapy has unknown results.  Early experience with surgical limb lengthening procedures resulted in a high incidence of complications, but recent experiences have improved results considerably.

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Related Links:

• US National Library of Medicine

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