Achondroplasia

Coutii Healthy - Achondroplasia is a disorder of bone growth that is marked with the body of the dwarf (dwarfism) and not proportional. Sufferers of achondroplasia has a size of sternum is normal, but the size of the arms and legs are short. The average height of sufferers achondroplasia adult male is 131 cm, while for adult women is 124 cm. Despite his physical condition is not normal, sufferers of achondroplasia has a normal intelligence level.

The Cause Of Achondroplasia

The cause of achondroplasia is a genetic mutation. Genetic mutation is a permanent change that occurs on the order of DNA that make up genes. In people with achondroplasia, the mutation occurs in the gene FGFR3 gene, namely that produce protein Fibroblastic Growth Factor Receptor 3. This protein plays an important role in the process of ossification, i.e. the process of changing the cartilage into bone. Mutations in the FGFR3 gene cause protein does not function normally, so disruptive changes to the cartilage into bone. This condition causes bones to grow shorter and have abnormal shape, especially the bone at the arms and legs.

There are two causes for the occurrence of FGFR3 gene mutation in people with achondroplasia, namely:

1. Mutations that occur spontaneously. Approximately 80% of achondroplasia is caused by a mutation of a gene that is not derived from his parents. Mutations occur spontaneously, but unknown trigger.
2. Mutation-derived. About 20% of cases of achondroplasia derived from parents. If one parent has achondroplasia condition, then the percentage of children suffering from achondroplasia amounting to 50%. If both parents have the condition achondroplasia, then the risks that may occur are as follows:

• 25% chance of normal stature.
• 50% chance of having a single gene defect, thus causing achondroplasia.
• 25% chance to inherit two defective genes, thus causing achondroplasia is fatal.
• Physical Characteristics Of Achondroplasia

Since the new-born baby, sufferers of achondroplasia can be recognized through its physical characteristics, among others:

1. The size of the arms, legs, and fingers are short.
2. Head size is larger, with a prominent forehead.
3. The teeth are not parallel and adjacent.
4. There is a space between the middle finger and the ring finger.
5. Experience the deformities of the spine, can be in the form of lordosis (forward curved) or kifosis (arched back).
6. A narrow spinal canal.
7. O-shaped limbs.
8. The soles of the feet are short and wide.
9. Tone or a weak muscle strength.

There are some health problems that may be experienced by sufferers of achondroplasia, among others:

1. Obesity.
2. Recurrent ear infections, because a narrowing funnel in the ear.
3. Limitations in the move, due to a decrease in muscle tone.
4. Spinal stenosis, narrowing of the spinal canal that is resulting in the tertekannya nerves in the spinal cord.
5. Hydrocephalus, namely the buildup of fluid in the cavities (ventricles) of the brain.
6. Sleep apnea, a condition that is characterized by the stopping of breathing during sleep.

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