Achondroplasia

Definition

A bone growth disorder that causes disproportionate dwarfism. Dwarfism is defined as a condition of short stature as an adult.

What causes it?

During early fetal development, much of your skeleton is made up of cartilage. Normally, most cartilage converts to bone. However, if you have achondroplasia, a lot of the cartilage doesn’t convert to bone. This is caused by mutations in the FGFR3 gene. The FGFR3 gene instructs your body to make a protein necessary for bone growth and maintenance. Mutations in the FGFR3 gene cause the protein to be overactive. This interferes with normal skeletal development.

Can it be prevented?

Most cases occur in families with no history of the condition, and can't be prevented. If a parent or parents have achondroplasia, a genetic counselor can give you information about the possibility of passing the condition on to your child.

Systems


  • -a short stature that’s significantly below average for age and sex
  • -short arms and legs, especially the upper arms and thighs, in comparison to body height
  • -short fingers in which the ring and middle fingers may also point away from each other
  • -a disproportionately large head compared to the body
  • -an abnormally large, prominent forehead
  • -an underdeveloped area of the face between the forehead and upper jaw
  • -delays in walking or any other motor skills
  • -slow breathing or stopped breathing
  • -water on the brain
  • -narrowing of the spinal canal that can compress the spinal cord
  • How can it be detected?

    During pregnancy:

    -abnormally large head

    -genetic tests

    After child is born:

    -looking at his or her features

    -x-rays to see the length of his or her bones

    -blood test

    What are the treatment options?

    There is no cure for this but they will give antibiotics for ear infections and they will do surgery for severe cases. Some doctors use growth hormones to increase the growth rate of a child's bones.
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