Achondroplasia is a form of short-limbed dwarfism. It is a rare genetic disorder marked by an unusually large head (macrocephaly) with a prominent forehead, flat or depressed nasal bridge; short upper arms and legs (rhizomelic dwarfism), unusually prominent abdomen and buttocks, and short hands with fingers that assume a “trident” or three-pronged position during extension.
An autosomal dominant genetic trait, achondroplasia occurs as a result of a fresh (new) spontaneous change (mutation) in genetic material in about 90 percent of cases. In achondroplasia the problem is not in forming cartilage but in converting it to bone (a process called ossification), particularly in the long bones of the arms and legs. Achondroplasia is similar to another skeletal disorder called hypochondroplasia, but the features of achondroplasia tend to be more severe.
Achondroplasia News and Information
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