How common is achondroplasia

Achondroplasia is a form of disproportionate dwarfism that is characterized by shortened limbs (particularly in the upper arms and legs), enlarged head with frontal bossing, midface hypoplasia and bowed legs.

There are fewer than 20,000 cases in the United States each year.

Achondroplasia is the result of a mutation in the FGFR3 gene and might be detected using radiological techniques, physical exams and genetic testing. Treatment of symptoms might include monitoring and surgery by doctors who specialize in skeletal dysplasia.

There is no cure for achondroplasia.

Limb-lengthening surgery should only be discussed when the patient is old enough to weigh the risks and benefits.

Achondroplasia symptoms

Adaptability products can help people with the condition do daily tasks such as hygiene, driving and reaching household items. Curvature of the spine can be treated with a brace or, less frequently, with spinal fusion surgery.

Shoe lifts or inserts can address leg-length discrepancies. Surgery might be necessary to address leg alignment problems.

Achondroplasia heredity and genetics

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is there a cure for achondroplasia

how is achondroplasia diagnosed