- Children of a parent with achondroplasia
- Children of normal-sized parents who carry a mutated FGFR3 gene
- Advanced paternal age causing spontaneous mutations
- Short stature, a long trunk, and shortened limbs, which are noticeable at birth
- An adult height of between 42-56 inches
- A head that is large and a forehead that is prominent
- Portions of the face can be underdeveloped
- At birth, the legs appear straight, but as a child begins to walk, he or she develops a knock-knee or bowed-leg deformity
- The hands and the feet appear large, but the fingers and toes are short and stubby
- Straightening of the arm at the elbow may be limited, but usually does not keep a patient from doing any specific activities
- Children may develop an excessive curve of the lower back and a waddling walking pattern
- Dental problems
- Weight control problems
- Dental problems from overcrowding of teeth
- Neurologic and respiratory problems
Fatigue, pain, and numbness in the:
- Lower back
- MRI scan
- CT scan
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- Spinal fusion —a surgery to permanently connect otherwise separate vertebrae
- Laminectomy —a surgery to open the spinal canal to relieve pressure on the compressed spinal cord from spinal stenosis
- Osteotomy—the bones of the leg are cut and allowed to heal in the correct anatomical position. This procedure is for patients with severe knock-knee or bowed legs.
American Academy of Pediatrics http://www.healthychildren.org
Little People of America http://www.lpaonline.org
Canadian Paediatrics Society http://www.cps.ca
Little People of Ontario http://www.lpo.on.ca/
Achondroplasia. EBSCO DynaMed website. Available at: http://www.ebscohost.com/dynamed. Updated January 10, 2011. Accessed July 24, 2013.
Aldegheri R, Dall'Oca C. Limb lengthening in short stature patients. J Pediatr Orthop B. 2001 Jul;10(3):238-47.
Aviezer D, Golembo M, Yayon A. Fibroblast growth factor receptor-3 as a therapeutic target for achondroplasia--genetic short limbed dwarfism. Curr Drug Targets . 2003;4(5):353-65.
- Reviewer: Kari Kassir, MD; Michael Woods, MD
- Review Date: 07/2013 -
- Update Date: 05/11/2013 -
This content is reviewed regularly and is updated when new and relevant evidence is made available. This information is neither intended nor implied to be a substitute for professional medical advice. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with questions regarding a medical condition.
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