Achondroplasia is a rare genetic disorder that causes short stature and bowed legs. It is the result of a genetic mutation that is more likely to arise in the children of older men.
Dwarfism refers to restricted growth that is due to medical or genetic causes. Although dwarfism has a range of possible causes, about
In this article, we discuss the genetics of achondroplasia, including the mutation that causes it. We also explain how heritable the condition is, who is most likely to get it, and what symptoms it causes.
- short stature
- bowed legs
- large head size
- short digits
- stiff elbows
The review notes that these symptoms can have a significant effect on people’s quality of life and their ability to perform daily tasks. For example, the combination of shorter stature with stiff elbows can lead to difficulties reaching items. Bowed legs can make walking difficult and painful.
People with achondroplasia can also develop lumbar spinal stenosis as a result of abnormal bone growth. This condition causes a compression of the nerves in the spine, leading to pain, weakness, and mobility problems. It is a serious complication and the
Other complications of achondroplasia include sleep apnea and hearing problems. People with the condition also have a life expectancy that is
There is no cure for the condition. However, doctors can recommend various treatment options for the symptoms and complications of achondroplasia. These may include:
- spinal fusions
- guided bone growth
- ear tubes for middle ear problems
These treatments can reduce symptoms in people with achondroplasia and improve their ability to perform daily tasks.
Achondroplasia is the result of a
Genetic mutations refer to changes in genes that cause differences among individuals. Genes provide instructions for the body’s cells and influence how they grow, interact, and die. Genetic mutations can influence any stage in this process and produce a wide range of characteristics.
The FGFR3 gene provides instructions for the fibroblast growth factor 3 (FGFR3) protein. This protein
People with the achondroplasia-causing mutation in their FGFR3 gene have reduced growth in some of their bones.
Genetic mutations occur all the time and are usually harmless. They can arise for no clear reason. However, there is some
Achondroplasia can pass through families because parents pass genes on to their children. There is a chance that someone with an FGFR3 gene mutation will pass it onto their child, who may then develop the condition.
However, achondroplasia is rare, and a
However, the matter is more complex when one or both parents have achondroplasia. If both parents have the condition, there is a:
- 25% chance that the child will have average stature
- 50% chance that the child will have achondroplasia
- 25% chance that the child will have homozygous achondroplasia, which causes death during infancy
Other genetic factors can affect the odds of developing achondroplasia. The age of the father can
Research suggests that about
It remains unclear whether other factors affect the likelihood of developing achondroplasia.
Achondroplasia is a rare genetic condition that affects bone growth. It causes several problems that affect daily living, such as difficulty walking and reaching.
People with achondroplasia can pass the genetic mutation responsible for the condition to their children. However, many children of people with the condition will not develop it.
The risk of a child having achondroplasia increases if the father is over 35 years of age at the time of their birth.