Chondrodystrophy
Overview
Chondrodystrophy (literally, "cartilage bad-nourishment") refers to a skeletal disorder caused by one of myriad genetic mutations that can affect the development of cartilage. It is a very general term, and is usually only used in the medical literature when a more precise description of the condition is not available.
Symptoms
* Skeletal abnormalities * Short limbs * Dwarfism
Causes
It is thought that chondrodystrophy is actually caused by a autosomal, recessive allele. To avoid a potential "lethal dose," both parents must submit to genetic testing. If a child is conceived with another carrier the outcome may be lethal, or the child may be born with Chondrodystrophy, or Dwarfism. This means that even though both parents are completely normal in height, the child will have one of the two types of skeletal dysplasia.
Diagnosis
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
Treatment
There is no treatment at this time to promote actual bone growth in chondrodystrophy patients. Certain types of growth hormone seem to increase the rate of growth during the first year of life/treatment, but has no substantial effect once in adulthood. Only a few surgical centers in the world perform, experimentally, leg and arm lengthening procedures.