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Achondroplasia is a rare genetic bone disorder characterized by short-limbed dwarfism  . In Achondroplasia, there is an abnormal cartilage formation that affects the skeletal growth of a person and makes them a dwarf with short limbs and large head.
The average height of achondroplasia adult males is 4 feet, 4 inches while females have 4 feet, 1 inch  . Their intelligence level is normal and the dwarfism trait in parents often used to pass to their children. However, it can also occur to people who do not have a history of dwarfism in their family due to some gene mutation. Achondroplasia is among the oldest known birth defects and its ratio is 1 in 15000 - 35000 births.
What Causes Achondroplasia
Achondroplasia is referred to as an autosomal dominant disease. It can affect both males and females. A gene named FGFR3  is responsible for the development of bone and brain tissues in our body. Due to two specific kind of mutations in that gene, bone development process gets disturbed leading a person to achondroplasia.
If at least one defective FGFR3 gene passes to the child from either of the parents, the child can develop the trait of dwarfism. However, a report says that 80% of people have developed the condition due to a new gene mutation in the family who don't have a history of dwarfism.
Symptoms Of Achondroplasia
Every child with achondroplasia may experience different symptoms. However, common symptoms of the condition are as follows:
1. Short arms, legs and fingers
2. Short stature than average people 
3. Large heads in comparison to their body
4. Bowed lower legs 
5. Lordosis, a condition characterized by the curved lower spine
6. Short and broad flat feet
7. Trident hand, a large space between the middle and ring fingers
8. Apnea, slow breathing or sudden stop of breathing
10. An ear infection that occurs often 
11. Delay in motor functions
12. Hydrocephalus, water in the brain 
Diagnosis Of Achondroplasia
Achondroplasia can be diagnosed by two methods which are as follows:
- Diagnosis during pregnancy: During an ultrasound, any abnormalities (large head or a short limb) in the foetus can be identified easily by a medical expert. If they suspect the condition, genetic tests are ordered by taking an amniotic fluid sample from the mother's womb  .
- Diagnosis after pregnancy: If a child is born with achondroplasia, the condition can easily be identified visually by a medical expert. X-ray test is ordered to find out the length of the child's bones .
Treatment Of Achondroplasia
People with achondroplasia can live a normal life. However, children with the condition need a lot of medical attention and care for their physical and mental growth. The treatments are as follows:
- Surgery of the spinal stenosis, in case it is too narrow 
- Surgery in case of spinal cord compression
- Surgery to correct the bowed legs
- Surgery to prevent hydrocephalus, water in the brain 
- Antibiotics for ear infection 
- Straightening the teeth in case of dental crowding
- Growth hormone, but this is not yet proved to be effective
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