Achondroplasia
Achondroplasia is a genetic disorder that is marked by abnormally slow conversion of cartilage to bone during development. The result is usually a normal torso and shortened limbs. It 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.