Achondrogenesis (Encyclopedia of Genetic Disorders)
Achondrogenesis is a disorder in which bone growth is severely affected. The condition is usually fatal early in life.
The syndrome achondrogenesis results from abnormal bone growth and cartilage formation. It is considered a lethal form of infantile dwarfism. Dwarfism is a condition that leads to extremely short stature. In achondrogenesis, the abnormalities in cartilage formation lead to abnormalities in bone formation. The lethality of the disorder is thought to result from difficulty breathing, probably due to having a very small chest. Achondrogenesis usually results in a stillborn infant or very early fatality. Achondrogenesis can be subdivided into type 1 and type 2. Type 1 can further be subdivided into type 1A and type 1B. Types 1A and 1B are distinguished by microscopic differences in the cartilage and cartilage-forming cells. Cartilage-forming cells (chondrocytes) are abnormal in type 1A, whereas the cartilage matrix itself is abnormal in type 1B.
Previously, health care professionals had recognized achondrogenesis types 3 and 4, but those classifications have been abandoned. Types 3 and 4 are now...
(The entire section is 1312 words.)
Want to Read More?
Subscribe now to read the rest of this article. Plus get complete access to 30,000+ study guides!