What is Achondroplasia?
Achondroplasia is a condition that causes dwarfism or stunted body and belongs to the group of bone growth disorders. Patients with achondroplasia have short arms and legs. Apart from achondroplasia, other causes of dwarfism include growth hormone disorders and Turner's syndrome.
Of all cases of achondroplasia, 80 percent of them do not occur due to heredity, but genetic mutations spontaneously. While 20 percent of them are inherited from parents who also experience this condition.
Patients with adult achondroplasia rarely reach 152 cm in height. Their average height is about 124-132 cm.
When a newborn, achondroplasia babies can be recognized by physical symptoms, in the form of body stature, legs, arms, and fingers that look short. Their heads also appear larger than their bodies, and their foreheads look abnormally protruding. After entering the age of childhood and adulthood, the physical appearance of achondroplasia sufferers will appear more obvious. In addition to being stunted, the patient's spine and legs appear curved. They also find it difficult to fully bend the elbow.
Not only physical problems, some health problems are also very risky for sufferers of achondroplasia. As babies, their walking and some motor skills tend to be slower. This is caused by a decrease in muscle tone. In addition, babies with achondroplasia are also at risk for spinal stenosis (suppression of the spinal cord which contains nerves due to narrowing of the spinal canal), hydrocephalus, and respiratory apnea. As you get older, spinal stenosis can get worse. In addition, children and adults with achondroplasia can develop periodic ear infections and obesity conditions.
Causes Of Achondroplasia
In the human body there is a gene called FGFR3. This gene functions for the growth and maintenance of bones. Mutations in this gene cause disruption of the transformation of cartilage into bone. Impaired bone growth makes sufferers of this condition become stunted.
Diagnosis of Achondroplasia
The only way to confirm a person has achondroplasia is through a genetic test to determine if there is a defect in the FGFR3 gene. Even so, this test is not necessarily done by doctors without suspicion. In children or adults, the doctor's suspicion can be based on the appearance of a dwarf body stature. And gene analysis is usually done through blood samples.
Meanwhile, during pregnancy, suspicion can be based on the shape of a large head seen from the ultrasound results. Gene analysis is usually done by taking a sample of the amniotic fluid in the uterus.
Achondroplasia Treatment
Unfortunately, until now there is no drug or any treatment method that can cure achondroplasia. Treatment is only aimed at alleviating complications that arise in patients with this disorder, such as applying surgical procedures to treat spinal stenosis and giving antibiotics to relieve ear infections.