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What are the symptoms of achondroplasia?

The following are the most common symptoms of achondroplasia. However, each child may experience symptoms differently. Symptoms may include:

    • shortened arms and legs, with the upper arms and thighs more shortened than the forearms and lower legs
    • large head size with prominent forehead and a flattened nasal bridge
    • crowded or misaligned teeth
    • curved lower spine - a condition also called lordosis (or "sway-back") which may lead to kyphosis, or the development of a small hump near the shoulders that usually goes away after the child begins walking.
    • small vertebral canals (back bones) - may lead to spinal cord compression in adolescence. Occasionally children with achondroplasia may die suddenly in infancy or early childhood in their sleep due to compression of the upper end of the spinal cord, which interferes with breathing.
    • bowed lower legs
    • flat feet that are short and broad
    • extra space between the middle and ring fingers (Also called a trident hand.)
    • poor muscle tone and loose joints
    • frequent middle ear infections which may lead to hearing loss
    • normal intelligence
    • delayed developmental milestones such as walking (which may occur between 18 to 24 months instead of around one year of age)

The symptoms of achondroplasia may resemble other problems or medical conditions. Always consult your child's physician for a diagnosis.

 

 

 
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