INDEX:
- What is achondroplasia?
- Prognosis
- Symptoms
- How is it diagnosed?
- Causes of the disease
- Can it be prevented?
- How is it treated?
- Who treats achondroplasia?
What is achondroplasia?
Achondroplasia is a bone growth disorder that represents the most common cause of dwarfism. Achondroplasia generates a morphological alteration (formation and growth) in the bones that causes numerous complications.
Prognosis of the disease
In most cases, people with achondroplasia usually do not reach a height of 1.5 meters. Almost all people with this condition have normal intelligence and can lead a normal life.
They should have regular medical checkups throughout their lives because the condition can cause health problems that can be treated.
Symptoms of achondroplasia
The main symptom is dwarfism, which may have other symptoms as a result:
- Abnormally large head
- Crowded or crooked teeth
- Short stature
- Large forehead
- Flat bridge of the nose
- Bowed legs
- Limited elbow range of motion
- Kyphosis
- Short fingers
- Decreased muscle tone
Once the baby is born, x-rays may be done that may reveal achondroplasia.
X-rays may be done that may reveal achondroplasia.
Medical tests for achondroplasia
Achondroplasia may be diagnosed during pregnancy. A prenatal ultrasound may show excessive amniotic fluid surrounding the fetus.
Once the baby is born, x-rays may be done, which may reveal achondroplasia. A CT scan or MRI of the brain may also be done to see if there are signs of hydrocephalus.
Some other tests that are done include sleep studies and neuroimaging.
What are the causes of achondroplasia?
Achondroplasia is caused by a mutation in the fibroblast growth factor receptor 3 gene. This prevents bone growth, especially affecting the long bones in the arms and legs.
This condition can be inherited as an autosomal dominant trait, meaning that if one or both parents have achondroplasia there is a high probability that the child will be born with the disease.
However, in most cases it appears as a spontaneous mutation.
Can it be prevented?
Although genetic counseling may be helpful for prospective parents when one or both parents have achondroplasia, the reality is that it is not always preventable, because the condition often develops spontaneously.
Treatments for achondroplasia
Achondroplasia has no specific treatment, but the condition can cause certain diseases that will need to be treated:
- Surgery for obstructive sleep apnea.
- Surgery for ear infections
- Follow a healthy lifestyle to treat obesity.
- Bracing to correct kyphosis
- Ventriculoperitoneal shunt to treat hydrocephalus
- Physical therapy to correct gait
- Corrective surgery for bowlegs
- Spinal surgery for spinal stenosis
Which specialist treats you?
The expert in charge of the treatment of achondroplasia is the Traumatology physician.