Achondroplasia

By:Danielle Pouwels

How can a person receive the disorder and how do doctors diagnose the disorder

In more than 80 percent of cases, Achondroplasia isn't inherited. These cases are caused by spontaneous mutations in the gene. The other 20 percent of cases are inherited. Only parent needs to pass down a defective gene for a child to have achondroplasia.


The doctor may diagnose the child with achondroplasia while you're pregnant or after you child is born.

Diagnosis during pregnancy- Some characteristics of achondroplasia are detectable during an ultrasound. If your doctor suspects achondroplasia, genetic tests may be ordered. These test look for defective gene in a sample of amniotic fluid, which is the fluid that surrounds the fetus in the womb.

Diagnosis after child is born- Your doctor can diagnose your child by looking at his/her features. The doctor may want X-rays to measure the length of the child's bones. He may also want blood tests to look for the defective gene.

Symptoms


At birth, a child with this condition will likely have:

  • 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

Health problems an infant may have include:

  • decreased muscle tone, which can cause delays in walking and other motor skills
  • apnea, which involves brief periods of slowed breathing or breathing that stops
  • hydrocephalus, or water on the brain
  • spinal stenosis, which is a narrowing of the spinal canal that can compress the spinal cord

Children and adults with achondroplasia may:

  • have difficulty bending their elbows
  • be obese
  • experience recurrent ear infections because of narrow passages in the ears
  • develop bowed legs
  • develop an abnormal curvature of the spine called kyphosis or lordosis
  • develop new or more severe spinal stenosis

Treatment

There’s no cure or specific treatment for achondroplasia. For example, antibiotics are given for ear infections and surgery may be performed in severe cases of spinal stenosis.

Fun Facts

  • The average height for adults with achondroplasia is 4 feet, 4 inches for males and 4 feet, 1 inch for females.It’s rare for an adult with achondroplasia to reach a height of 5 feet.
  • Most Achondroplasia people are double jointed, which is caused by loose ligaments.
  • Achondroplasia, which means "without cartilage formation", is a greek word.
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