What is Achondroplasia?
Achondroplasia is a genetic disorder that affects bone growth and causes abnormal development of cartilage during fetal development.
A child born with achondroplasia will have shorter bones than other children, including arms and legs, as well as a larger head size and forehead.
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Signs & Symptoms
The most common characteristics associated with achondroplasia include:
- Short arms and legs, especially the upper arms and thighs
- Shorter than average trunk length
- Prominent forehead/li>
- Protruding jaw
- Flattened mid-face (malar area)
- Narrow chest
- Abnormal side-to-side and front-to-back spinal curvature
- Curved lower back (lordosis)
- Spinal stenosis, which can cause pain in the lower back, legs, and feet
- Increased risk for respiratory problems due to the narrow chest
- Otitis media, which is an accumulation of fluid in the middle ear
- Joint stiffness
- Limited range of motion in the elbows, hips, and knees
- Increased risk for obstructed airways during sleep (sleep apnea)
- Excessive sweating
The primary risk factor for achondroplasia is a family history of the disorder. If one parent has the condition, there is an increased chance that any children they have could also inherit it.
Other factors that can increase the likelihood of a child being born with achondroplasia include advanced maternal age and being born small for gestational age.
In some cases, achondroplasia may occur sporadically without any family history of the disorder. In these instances, the cause is unknown, but it is likely due to a random mutation in the FGFR3 gene. This gene helps control bone growth and development, which can be disrupted when the gene is abnormal.
Treatment for Achondroplasia
Treatment for achondroplasia is tailored to each individual, depending on their specific symptoms. Sometimes, no treatment may be necessary as the disorder is usually not life-threatening.
Physical therapy can help strengthen muscles and increase mobility, while medications may be used to reduce pain or other symptoms. In addition, genetic counseling is recommended for affected families to understand the risks and provide emotional support.
- Newborns should be physically evaluated yearly
- X-rays, MRI scans and CT scans may be used to monitor the spine and lower extremities.
- Treatment for spinal stenosis might be needed
- Surgery can be done to correct the misalignment of the limbs
- Surgical decompression is most successful when performed quickly
It is recommended that families with a history of achondroplasia understand the risk of passing the disorder on to their children. Counseling can also provide emotional and psychological support for individuals living with achondroplasia and their families.