X ray showing the skull and spine of a person with achondroplasia

Achondroplasia

Definition

Achondroplasia, or short-limb dwarfism, is the most common form of

abnormally short stature in adults. It is caused by a mutation in a single gene

on chromosome 4 that regulates the conversion of cartilage to bone. This

gene is the only gene that is known to be associated with achondroplasia.

Description

Achondroplasia is basically a disorder of bone development. The skeleton

of a human fetus is composed primarily of cartilage, a dense and somewhat

elastic form of connective tissue that gradually turns to bone during

normal development. In a person with achondroplasia, a gene that is

involved in the process of bone formation produces too much of a protein

that limits bone growth. As a result, the person with achondroplasia has

unusually short bones in the arms and legs and other skeletal abnormalities.

They also usually have difficulties with posture, joint disorders, and

breathing problems in later life.

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