Achondroplasia

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What is Achondroplasia?

Achondroplasia is a disorder of bone growth that causes the most common form of dwarfism.

It is characterised by a trunk of normal length, short broad limbs, an enlarged skull, small face and flattened nose bridge. Intelligence and reprductive function are unaffected.

Who gets Achondroplasia?

Achondroplasia affects about 1 in every 40,000 births worldwide.There does not appear to be any racial preference. Males and females are affected equally. It is thought that 80% of all 'little people' have achondroplasia.

Predisposing Factors

Achondroplasia can be inherited as an autosomal dominant trait, which means that if a child receives the affected gene from one parent, he or she will have the disorder.
If one parent has achondroplasia, the baby has a 50% chance of inheriting the disorder. If both parents have the condition, the baby's chances of being affected increase to 75%.

However in 80% of cases, two parents of normal stature and without affected family members give birth to a baby with achondroplasia.

Progression

Children affected by achondroplasia may be delayed in reaching gross motor milestones such as head control, independent sitting and walking. Ear infections are common, and the chance of respiratory complications is increased. Serious neurological problems may also occur due to narrowing of the spinal canal and nerve compression.

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