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.
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:
Spinal StenosisCopyright © Nucleus Medical Media, Inc. |
Healthy Children—American Academy of Pediatrics
http://www.healthychildren.org
Little People of America
http://www.lpaonline.org
Caring for Kids—Canadian Paediatrics Society
http://www.caringforkids.cps.ca
Little People of Ontario
http://www.lpo.on.ca
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