Achondroplasia

by; Rosemary Taylor

Achondroplasia

- Is a bone growth disorder that causes disproportionate dwarfism. Dwarfism is defined as a condition of short stature as an adult. People with achondroplasia are short in stature with a normal sized torso and short limbs.

What Causes Achondroplasia?

- 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.

Is Achondroplasia Inherited?

- In more than 80 percent of cases, achondroplasia isn’t inherited, according to the

National Human Genome Research Institute (NHGRI)

. These cases are caused by spontaneous mutations in the FGFR3 gene. About 20 percent of cases are inherited. The mutation follows an autosomal dominant inheritance pattern. This means that only one parent needs to pass down a defective FGFR3 gene for a child to have achondroplasia.

If one parent has the condition, the child has a 50 percent chance of getting it.

If both parents have the condition, the child has:

  • a 25 percent chance of normal stature
  • a 50 percent chance of having one defective gene that causes achondroplasia
  • a 25 percent chance of inheriting two defective genes, which would result in a fatal form of achondroplasia called homozygous achondroplasia

Infants born with homozygous achondroplasia are usually stillborn or die within a few months of being born.

What Are the Symptoms of Achondroplasia?

- People with achondroplasia generally have normal intelligence levels. Their symptoms are instead physical.

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