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Achondroplasia is an autosomal dominant genetic disease that results in short limbs due to a mutation in the FGFR3 gene of chromosome 4, which can be inherited from (a) parent(s) or obtained spontaneously. If occurring spontaneously, the mutation will occur in one of the parents’ haploid gametes before the parents conceive, thus causing the child to inherit the disease. The mutation of the FGFR3 gene causes short limbs by preventing cartilage, a body tissue, from forming into bone while a baby is growing. The lack of ability to convert cartilage to bone results in a short stature, and prevents regular growth of bones.

A large head with a prominent forehead

Flattened bridge of the nose

Protruding jaw

Crowded and misaligned teeth

Curvature of the spine

Bowed legs

Flat, short, broad feet

Double-jointedness

Late development of motor skills (such as standing up or walking)

Breathing problems

Stiffness or arthritis

Leg numbness

Back pain

The disease is due to the inheritance of an altered FGFR3 gene from one or both parents. The altered FGFR3 gene is responsible for making the protein that regulates bone growth. The protein that is directly affected limits the formation of bone from cartilage. The process of forming bone from cartilage is called ossification.

The different isoforms of the protein are found in various tissues of the body, and they interact with a variety of growth factors.

80% of achondroplasia cases are caused by new mutations, not hereditary causes (most infants with achondroplasia are born to parents without achondroplasia)

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(Diminutive Warriors of Achondroplasia Recovery Foundation)

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