Achondroplasia or Dwarfism Michael Touhey: Period 5 Biology

Achondroplasia is a cause of dwarfism. Dwarfism occurs when an organism is short in stature from a condition that caused very slow growth. This can be caused by something called the fibroblast growth factor receptor 3 a protein that in humans is put it the code by the FGFR3 gene. In normal development FGFR3 has a weak regulatory effect on bone advancement. In Achondroplasia, the altered form of the receptor is constantly active and this leads to very shortened bones.

Help: Achondroplasia can be catched before birth by using a fetal ultra sonic. A DNA test can be acted before birth to detect homozygosity. Homozygosity is the state of acquired two exact forms of a particular gene, passed down from one of each parent.

Is there treatment? : Adults with achondroplasia should also monitor and control their weight. Treatment with human growth safety, which is still considered experimental, has been preliminary reported to increase the growth rate after treatment, but studies have not yet demonstrated that adult height is increased by this treatment.

Is there a genetic test?: Yes genetic tests are available for many of the known causal genes of dwarfism-related confusion, but these tests often aren't necessary to make an careful diagnosis. Your doctor is likely to suggest a test only to analyze among possible diagnoses when other evidence is unclear or as a part of further family planning. If your pediatrician believes your daughter may have Turner syndrome, then a special lab test may be done that assesses the X chromosomes extracted from blood cells.

Can it be heritable?: Yes it can be passed down from parents to offspring. All people with achondroplasia have short height. The average height of an adult male with achondroplasia is 131 centimeters, and the average height for adult females is 124 centimeters.

Can it be Diagnosed?: Some types of dwarfism can be identified through prenatal testing if a doctor suspects a particular condition and tests for it. But most cases are not identified until after the child is born. In those instances, the doctor makes a diagnosis based on the baby's appearance, growth pattern, and X-rays of the bones.

Facts about Achondroplasia Video

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