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Achondroplasia

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Achondroplasia is a disorder which affects bone growth and causes disproportionate dwarfism. People with achondroplasia have short height, short limbs and a normal sized torso.

In the uterus, the foetal skeleton is developed from cartilage, which converts to bone as the foetus develops. In achondroplasia, most of the cartilage fails to convert into bone causing dwarfism. This is due to a genetic mutation.

Most cases of achondroplasia are random, meaning that at times parents without achondroplasia may give birth to a baby with this disorder.

When to seek expert advise

If you notice symptoms in your child that may hint towards achondroplasia, or you are expecting a baby, you can seek the medical advice of the highly trained medical faculty working with the Department of Paediatrics at The Aga Khan University Hospital.

Disclaimer

The information provided on our website is for educational purposes and not intended to be a substitute for medical advice, diagnosis or treatment. You should always seek the advice of your doctor or other healthcare professional provider.

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