Achondroplasia is not a condition that requires treatment. However, it can cause complications that may be helped with treatment.
Achondroplasia is a rare genetic condition that affects bone growth. It is the primary cause of dwarfism. The characteristic signs of achondroplasia are short stature and limbs that are disproportionately short in comparison with the torso.
Achondroplasia is a type of restricted growth. Specifically, the condition is characterized by irregularities in the remodeling of cartilage and bone, resulting in overall short stature and limbs that are short compared with the torso.
Some other possible signs and symptoms of achondroplasia include:
- short digits
- leg bowing
- stiff elbows
Achondroplasia can increase the risk of certain health complications. This article lists some potential complications of achondroplasia and some of their associated treatment options.
Achondroplasia is not a condition that requires a cure or treatment. However, some people with achondroplasia may require treatment to help
Below are some treatment options that may help with achondroplasia complications.
Some people with achondroplasia develop curvature of the spine. Not all cases of spinal curvature produce symptoms, and not all cases require treatment.
Spinal fusion is a surgical intervention that involves fusing several vertebrae in the spine. The procedure helps reduce excessive curvature and may help stabilize the spine.
- Treating lumbar spinal stenosis (LSS): Some people with achondroplasia may develop LSS, which is a narrowing of the canal that the spinal cord goes through. In people with achondroplasia, LSS is the most common cause of disability in later life.
- Treating thoracolumbar kyphosis (TLK): Some people with achondroplasia may develop TLK, which refers to curvature of the upper spine. Doctors tend to recommend spinal fusion only for extreme cases of TLK, wherein braces and other therapeutic techniques have not worked.
Spinal fusion can cause complications. For example, this surgery
Talk with a doctor before considering spinal fusion surgery is an important first step.
Guided growth and osteotomy
Leg bowing is a common symptom of achondroplasia. Around
There are two main surgeries that can help treat bowed legs:
- Guided growth procedure (GGP): This procedure is only suitable for children who are still growing. The GGP involves attaching one side of a deformed bone to a special growth plate. The tethered side grows more slowly than the untethered side, allowing the bone to straighten gradually.
- Osteotomy: This procedure involves cutting the tibia and fibia bones in the lower legs and realigning them with pins, plates, and screws or with an external frame that attaches to the bones with pins. It corrects bone alignment and reverses the excessive rotation of the leg bones. There is strong evidence to suggest that osteotomy can help reduce leg bowing in people with achondroplasia.
All surgical procedures carry risks, but for these, they vary on a case-by-case basis.
Vosoritide injection to promote growth
Rather than treat the symptoms, vosoritide targets the genetic mutation that causes achondroplasia.
This genetic mutation stimulates the gene called fibroblast growth factor receptor 3 (FGFR3). The gene stimulation causes slower bone growth and shorter bones.
Vosoritide is a molecule that increases a child’s linear growth by binding to the natriuretic peptide receptor type B (NPR-B), the gene that boosts the rate of bone growth.
The children receiving vosoritide injections grew about 1.57 centimeters more per year than the children receiving placebos.
Vosoritide is injected under the skin once every day.
Achondroplasia can increase the risk of certain health complications. Some of these complications and their associated management options include:
- Sleep apnea: Obstructive sleep apnea is a condition in which a person repeatedly stops breathing temporarily while asleep. According to a
2020 article, the following factors can help manage sleep apnea in people with achondroplasia:
- losing weight
- using a continuous positive airway pressure device to keep the airways open during sleep
- undergoing adenotonsillectomy, which is an operation to remove the adenoids and tonsils
- Middle ear dysfunction: According to the same article, around 40% of people with achondroplasia experience hearing loss, which can sometimes affect language development. Doctors often recommend using ear tubes, which allow air into the middle ear while preventing fluid buildup.
- Hydrocephalus: A rare complication is hydrocephalus, which is a potentially life threatening buildup of cerebrospinal fluid in the brain. The 2020 article states that fewer than 5% of people with achondroplasia develop hydrocephalus. Those who do typically require surgery to drain the excess fluid from the brain.
Achondroplasia is a genetic condition characterized by irregularities in the remodeling of cartilage and bone.
People with the condition have a short stature and limbs that are short in comparison with their torso. They may also experience other bone-related symptoms, such as short digits, bowed legs, and stiff elbows.
Achondroplasia in itself does not require treatment.
However, the condition can increase the risk of certain health complications that may require treatment or management. Examples of such complications include sleep apnea, middle ear dysfunction, and curvature of the spine.
Not everyone with achondroplasia will develop complications as a result of the condition. In fact, many people with achondroplasia go on to live full and active lives.