Achondroplasia is characterized by short arms and legs, causing sufferers to have a stunted body (dwarfism). Achondroplasia is a rare disorder that only occurs in 1 in 15,000–40,000 births worldwide.
The average height of adult patients with achondroplasia is 131 cm in males and 124 cm in females. Even though they have different physical conditions, people with achondroplasia have a normal level of intelligence, like normal people in general.
Causes of Achondroplasia
The FGFR3 gene mutation causes the protein to not function properly, thus interfering with the transformation of cartilage into hard bone. As a result, the bones grow shorter with an abnormal shape, especially the ones in the arms and legs.
FGFR3 gene mutations in achondroplasia patients can occur in two ways, namely:
- 25% chance of a normally-bodied child
- 50% chance that a child will have one defective gene causing achondroplasia
- There is a 25% chance a child will inherit two defective genes causing fatal achondroplasia (homozygous achondroplasia).
Symptoms of Achondroplasia
- Short stature, far below the average height for his age.
- Short size of arms, legs, and fingers
- The head size is larger, with a prominent forehead.
- Misaligned and adjacent teeth
- Deformity of the spine, which can be in the form of lordosis (curvature forward) or kyphosis (curvature backwards),
- Narrow spinal column
- The limbs form the letter O.
- The soles of the feet are short and wide.
- Weak muscle strength
When to see a doctor
If you or your child is diagnosed with achondroplasia, it is advisable to undergo routine examinations at the doctor's office to prevent complications. It should be noted that the risk of developing achondroplasia complications can increase over time, so early treatment is expected to prevent worsening of symptoms.
Diagnosis of achondroplasia
After the baby is born
To confirm the diagnosis, the doctor can also carry out further examinations with a DNA test. This test is done by taking a DNA sample from the blood to be examined in the laboratory. The DNA sample is used to detect possible abnormalities in the FGFR3 gene.
FGFR3 gene mutation detection
Treatment of Achondroplasia
Tonsillectomy and adenoidectomy
- Overweight and obesity
- Recurrent ear infections are due to the narrowing of the ear canal.
- Restrictions in movement due to deformity of the arms and legs
- Spinal stenosis, which is a narrowing of the spinal column that causes pressure on the nerves in the spinal cord,
- Hydrocephalus is the accumulation of fluid in the cavities (ventricles) of the brain.
- Sleep apnea, which is a condition where the rhythm of stopping breathing occurs during sleep,
Prevention of achondroplasia
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