Achondroplasia is a genetic disorder that causes short stature, called dwarfism, and a large head, also known as macrocephaly. It is the most common cause of dwarfism.
This condition leads to patients reaching a full-grown height of less than four feet. The greatest shortening occurs in the bone between the shoulder and the elbow and the bone between the hip and the knee. There may also be underdevelopment of the face.
Achondroplasia is a genetic disorder caused by mutations in the FGFR3 gene.
A parent with the disorder has a 50 percent chance of passing the gene for achondroplasia to children. More commonly, a sudden genetic defect that occurs in the developing embryo causes the disorder.
Those at risk of inheriting achondroplasia are:
- Children of a parent with achondroplasia
- Children of normal-sized parents who carry a mutated FGFR3 gene
- Advanced paternal age causing spontaneous mutations
Diagnosis of Achondroplasia
We will evaluate the strength of your extremities and your bladder control, looking for signs of spinal stenosis.
Images tests could include:
- MRI scan
- CT scan
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Currently, no treatment can cure this condition. Scientists are exploring ways to create alternate growth factors which can bypass the missing receptor and lead to normal bone growth. They may offer the possibility of enhanced stature to future families who have children with achondroplasia.
Treatment with human growth hormone has been used for over a decade. It effectively increases bone growth rate, at least in the first year of life. There have been few studies looking at whether children treated with growth hormone achieve greater adult height.
Surgery can correct specific skeletal deformities:
- Spinal fusion — permanently connects otherwise separate vertebrae
- Laminectomy — opens the spinal canal to relieve pressure on the compressed spinal cord from spinal stenosis
- Osteotomy — allows to heal in the correct anatomical position (for severe knock-knee or bowed legs)
Osteotomy has primarily been used to correct deformities.
Genetic Counseling for Achondroplasia
You cannot prevent a genetic disorder. Genetic counseling can help you address and discuss the chances that your child will have achondroplasia. You may consider this counseling if you are planning on having a child and have a family history of genetic conditions.
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Content was created using EBSCO’s Health Library. Edits to original content made by Rector and Visitors of the University of Virginia. This information is not a substitute for professional medical advice.