Evans proved his point, starring in movies such as How The Grinch Stole Christmas (2000) (he portrayed the child Grinch) and on NBC's soap opera "Passions" (he played Timmy, the living doll). Evans died on August 5, 2002, at age 20, of a congenital heart condition.
What is achondroplasia?
Achondroplasia is a growth defect that causes very short stature, known as dwarfism. A gene defect causes problems with bone growth especially in the upper arm (humerus) and upper leg (femur). It affects 1 in 20,000 births or less, in both boys and girls and in all ethnic backgrounds. Most of the time (75-80% of cases) there is no history of achondroplasia in the family.
People with achondroplasia will, as adults, be around 4 feet tall.
There is a severe form of the disorder which causes an affected baby to be stillborn or die shortly after birth. Some other children with achondroplasia may die suddenly due to neurological problems.
Symptoms
Achondroplasia is noticeable at birth. The baby has an appropriate-sized trunk but his arms and legs are short, his head is large, and his fingers and toes are stubby.
The baby with achondroplasia is slow to sit, stand, and walk alone, but he is not mentally retarded. After he starts walking he may become bow-legged. He may have frequent ear infections during childhood and develop a sway-back (lower back lordosis).
Adults may have trouble with pain in the legs, even paralysis that prevents walking. Surgery can relieve the pressure in the spine (from stenosis) causing these symptoms.
What is the future for research?
No one has yet found a way to cause the too-short bones of achondroplasia to grow. Researchers are looking at how to prevent it from occurring at all. In 1994 the gene for the disorder was located on Chromosome 4. Scientists are studying the exact chain of events that the defective gene causes that leads to the development of the disorder.
Last updated 12/3/05
Information for this article was taken from:
- March of Dimes. Fact Sheet on Achondroplasia.
- Johns Hopkins Department of Orthopedic Surgery. Patient Guide to Achondroplasia.
