Achondroplasia is one of the conditions that cause dwarfism or short stature and includes a group of disorders of bone growth . People with achondroplasia have short arms and legs . Besides achondroplasia , causing dwarfism Among other disorders of growth hormone and turner syndrome .
Of all cases of achondroplasia , 80 percent of which are caused by heredity , but a spontaneous genetic mutation . While 20 percent of them are inherited from parents who also have this condition .
Adult patients with achondroplasia seldom reach a height of 152 cm . Their average height is about 124-132 cm .
When newborn babies achondroplasia can be recognized from the physical symptoms, such as body posture, legs, arms, and fingers seem short. Their heads appear larger than its body, and the forehead is prominent not normal. Upon entering childhood and adulthood, people with achondroplasia physical will appear more clearly. Besides dwarf, spine and legs of patients appear to curve. They are also difficult to bend the elbow fully.
Not only physical problems, some of the health problems experienced by patients is also very risky achondroplasia. When the baby, walking ability and some of their motor skills tend to be slower. It is caused by a decrease in muscle tone. In addition, babies achondroplasia are also at risk of spinal stenosis (suppression of the spinal cord that contains nerve by narrowing of the spinal canal), hydrocephalus, apnea and respiratory problems. When it gets older, suffered spinal stenosis condition may worsen. In addition, children and adult patients with achondroplasia may experience periodic ear infections and obesity conditions.
Causes of Achondroplasia
In the human body there is a gene called FGFR3. This gene function for bone growth and maintenance. Mutations in this gene cause a disruption of cartilage into bone changes. Impaired bone growth makes the patient's condition becomes stunted.
diagnosis Achondroplasia
The only way to make sure a person is exposed achondroplasia is genetic tests to determine the presence of defects in the FGFR3 gene. However, this test is not necessarily performed by doctors without suspicion. In children or adults, the doctor's suspicion can be based to the body stature dwarfs look. And gene analysis is usually done through a blood sample.
Meanwhile, during pregnancy, the suspicion can be based to a large head shape that is visible from the sonogram. Gene analysis is usually done through sampling the amniotic fluid in the womb.
treatment of Achondroplasia
Unfortunately, there is currently no cure or treatment methods that can cure anything achondroplasia . Handling is only intended to alleviate complications arising in patients with these disorders , such as the application of operating procedures for dealing with spinal stenosis and antibiotics to relieve ear infection .
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