Achondroplasia

Achondroplasia develops while a baby is still in the womb. It occurs when cartilage, which is the tissue that makes up most of the fetal skeleton, doesn’t convert to bone the way normal cartilage does. This results in a baby being born with shortened limbs and a normal-sized torso. Achondroplasia is the most common type of dwarfism.

Causes

In some cases, achondroplasia can be hereditary. But in most cases, it’s the result of a genetic mutation.

Symptoms

Common signs and symptoms of achondroplasia are:

• Poor muscle tone and loose joints
• Flat feet that are short and broad
• Large head with a prominent forehead
• Flattened bridge of the nose
• Protruding jaw
• Crowded and misaligned teeth
• Forward curvature of the lower spine
• Bowed legs
• Double jointed

Diagnosis

Achondroplasia can often be diagnosed before birth, using an ultrasound followed by a DNA test to confirm fetal ultrasound findings. Your child’s doctor can also determine if your child has achondroplasia after they are born with a physical examination and medical history review.

Treatment 

There is no way to prevent or cure achondroplasia. Every child is different and treatment will depend on your child’s specific symptoms. Our expert doctors will determine the best course of treatment based on multiple factors and discuss all options for the best outcome for your child.

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Skeletal Dysplasia