ASD Libraries: G08: Science Genetic Disorders: Achondroplasia

Encyclopedia

“Achondroplasia .” The Cambridge Encyclopedia of Human Paleopathology, by Arthur C. Aufderheide and Conrado Rodriguez-Martin, 1st ed., Cambridge University Press, 2011. Credo Reference, https://credosource.infobase.com/articles/Qm9va0FydGljbGU6MzI4MDMw?aid=106697.

Achondroplasia is the classic model for short-limbed dwarfism. The fundamental defect lies in depressed cartilage proliferation at the long bone growth plate. The usual cartilage columns are replaced by irregular chondrocyte masses without architectural structure. A thin, horizontal plate of fibrous tissue and bone soon separates the cartilage from the epiphysis and its blood vessels, halting further extremity growth (Cotran et al., 1994:1218). Membranous bone formation, however, is unaffected. The result is a dwarfed body with a normal-sized trunk but shortened extremities (Fig. 12.1).The head often appears disproportionately large, which is only partly an illusion due to its brachycephalic shape with frontal bossing and a shortened cranial base that leads to a depressed nasal bridge and a consistendy prominent ‘saddle nose’. Spinal lordosis is especially common and the shortened, thickened ribs contribute to a flat-appearing chest.

Articles

About Achondroplasia
Achondroplasia is a disorder of bone growth. It is the most common form of disproportionate short stature. It occurs in one in every 15,000 to one in 40,000 live births.
What is achondroplasia?
Achondroplasia is a genetic condition affecting a protein in the body called the fibroblast growth factor receptor. In achondroplasia, this protein begins to function abnormally, slowing down the growth of bone in the cartilage of the growth plate. This leads to shorter bones, abnormally-shaped bones and shorter stature; adult height in people with achondroplasia is between 42 and 56 inches.

In addition, 20 to 50 percent of children born with the condition will experience neurological impairment.
Achondroplasia
Achondroplasia is the most common form of short-limbed dwarfism. The word achondroplasia means "without cartilage formation." Cartilage is a tough but flexible tissue that makes up much of the skeleton during early development. However, in people with achondroplasia the problem is not forming cartilage but converting it to bone (a process called ossification), particularly in the long bones of the arms and legs. Achondroplasia is similar to another skeletal disorder called hypochondroplasia, but the features of achondroplasia tend to be more severe.

Bone Growth in Achondroplasia

Books

Short by Holly Goldberg Sloan
Call Number: REAL SLO
ISBN: 9780399186219
Publication Date: 2017
In this heartwarming and funny middle-grade novel by the New York Times bestselling author of Counting by 7s, Julia grows into herself while playing a Munchkin in The Wizard of Oz Julia is very short for her age, but by the end of the summer run of The Wizard of Oz, she'll realize how big she is inside, where it counts. She hasn't ever thought of herself as a performer, but when the wonderful director of Oz casts her as a Munchkin, she begins to see herself in a new way. As Julia becomes friendly with the poised and wise Olive--one of the adults with dwarfism who've joined the production's motley crew of Munchkins--and with her deeply artistic neighbor, Mrs. Chang, Julia's own sense of self as an artist grows. Soon, she doesn't want to fade into the background--and it's a good thing, because her director has more big plans for Julia! Bubbling over with humor and tenderness, this is an irresistible story of self-discovery and of the role models who forever change us.