Monday, April 8, 2013

Achondroplasia

Achondroplasia is the most everyday form of dwarfism found in the world today. It has many serious effects, and potty be demeanor threatening, or debilitating in some cases. If the proper precautions atomic number 18 taken, then affected people terminate usually travel fairly normal lives.

        Achondroplasia affects ab prohibited 1 out of every 15,000 people born. It is autosomal dominant, and is caused by an abnormal component located on chromosome #4. If one p arnt has the condition and the early(a) does not, with each pregnancy there is a 50 partage vista that each child will be affected. If two(prenominal) parents have Achondroplasia, there is a 50 percent chance that the child will inherit the condition, a 25 percent chance that the child will not have it, and a 25 percent chance that the child will set about one affected divisor from each parent and be either stillborn, or die soon after birth. In most cases (over 80 percent), however, Achondroplasia is not inherited only results from a new mutation (change) that occurred in the egg or sperm cell that formed the embryo.

        In 1994, researchers identified the gene that causes Achondroplasia. This discovery allowed the development of highly accurate prenatal tests that can diag beak or rule out Achondroplasia. These tests are offered when both expectant parents have Achondroplasia.

        The characteristics of Achondroplasia are apparent at birth.

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The disorder causes several typical facial features such as having a large head with a prominent forehead. The mid(prenominal) face is often small with a flat nose and narrow nasal passages. The jaw tends to be small which can set the stage for dental crowding. Ear infections are common, and if left(p) untreated, can cause hearing damage, or loss. To prevent this, ear tubes are appointed to those that are commonly affected.

        Respiratory problems are common with infants...

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