Chondrodystrophy
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Chondrodystrophy (literally, "cartilage bad-nourishment") is a descriptive term no longer in use in the medical literature. It refers to a skeletal disorder caused by one of myriad genetic mutations that can affect hyaline cartilage. The proper term for such a disorder is a skeletal dysplasia, (which is the most common form of dwarfism) or chondrodystrophies. This disease is characterized by a normal size trunk but with shortened limbs and extremities. This is a form and characteristics of Dwarfism People that suffer from this disorder often call themselves, dwarfs, little people or short statured persons. With the advancements in medicine, there are over 100 specific skeletal dysplasias that have been identified. The disease is found in all races and in both females and male and occurs around 1 in every 25,000 children. Besides Chondrodystrophy, Achondroplasia is the most common.
Hyaline cartilage caps the long bones and the spinal vertebrae. Most childhood limb growth takes place at the ends of the long bones, not in the shaft. Normally, as a child grows, the most interior portion of the joint cartilage converts into bone, and new cartilage forms on the surface to maintain smooth joints. The old joint margins (edges) reabsorb, so that the overall shape of the joint is maintained as growth continues. Failure of this process throughout the body results in a skeletal dysplasia. It also leads to very early onset of Osteoarthritis, because the defective cartilage is extremely fragile and vulnerable to normal wear and tear.
It is thought that Condrodystrophy is actually caused by a autosomal, recessive allele. The best possible way to avoid a "lethal dose" of the disease is knowing if you are a carrier, and if you are, not conceiving with a fellow carrier. If you do conceive with another carrier the outcome is lethal, creating Chondrodystrophy, or Dwarfism. This means that even though both parents are completely normal in height, the child will be one of the two types of skeletal dysplasia. Type 1, is short trunk dysplasia, the more common of the two, with characteristics or a long trunk and extremely shortened extremities. Type 2, Short-limb dysplasia, shows a shortened trunk and normal size extremities. People with Chondrodystrophy not only have abnormal frames, but also may experience metabolic and hormonal disorders, both of which are monitored and controlled by hormonal injections. Unfortunately, because of their short stature many also experience whole system failures such as hearing, sight and digestive.
There are several ways to determine if a child has Chondrodystrophy including parent testing and x-rays. If the fetus is suspected of having Chondrodystrophy, the parents can be tested to find out if the fetus in fact does have the disease. It is not until the baby is born that a diagnosis can be declared. The diagnosis is declared through several x-rays and charted bone growth patterns. Once the child is diagnosed the parents have to monitor the children because of several different factors. As the child gets older, hearing, eye sight and motor skills may be defective. Also, breathing (apnea) and weight problems (obesity) may occur. Structurally, scoliosis, bowed legs (genu varus), and arthritis may result.
[edit] Ways to help/handle/cope with Chondrodystrophy
It is important that the individual feel independence and self-worth. Under the Constitution, Little People are protected by the Disability discrimination act, even though most little people do not act or feel that they have a disability. There are several appliances made available to help with their stature, including light-switch extender and longer pedals for effective driving purposes. Also, there are several organizations that help Little People interact and get involved, such as the Little People of America.
