Achondroplasia (ACH) is a genetic bone disorder. It is the most common type of dwarfism. Key features are a large head, short limbs, a narrow chest, and short fingers.
Causes may be:
This problem can happen in people who do not have any known risk factors.
The gene changes can also be passed through a family, though this is not as common.
Problems are often seen at birth. Key features are a large head, short limbs, a narrow chest, and short fingers.
Other problems may be:
A prenatal ultrasound may point to ACH. Genetic testing may be done to confirm it.
ACH may also be suspected during a physical exam at birth. It can be confirmed through x-rays. Rarely, genetic testing may be done if the exam and x-rays are not certain.
There is no cure. The goal of treatment is to manage related health problems. Choices are:
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There are no known guidelines to prevent ACH.
Healthy Children—American Academy of Pediatrics
Little People of America
Caring for Kids—Canadian Paediatrics Society
Little People of Ontario
Achondroplasia. EBSCO DynaMed website. Available at: https://www.dynamed.com/condition/achondroplasia. Accessed October 29, 2020.
Achondroplasia. Genetic and Rare Diseases Information Center website. Available at: https://rarediseases.info.nih.gov/diseases/8173/achondroplasia. Accessed October 29, 2020.
Pauli RM, Legare JM. Achondroplasia. GeneReviews 2018 May 10.
Last reviewed September 2020 by EBSCO Medical Review Board James P. Cornell, MD Last Updated: 4/28/2021