| Inheritance | autosomal dominant |
|
Occurrence
|
1 in 5,000 to 1 in 10,000 |
| Description | Ehlers-Danlos is a group of connective tissue disorders characterized by articular hypermobility (the ability to flex joints beyond the "normal" range), skin hyperelasticity (the ability to stretch the skin away from the body), and fragile skin and tissues (easy bruising and easily ruptured skin and blood vessels). |
| Diagnosis | through a physician familiar with EDS |
| Cause | mutations in the genes for collagen |
Background:
This disorder is very similar to Marfan Syndrome, and may be introduced in conjunction with one another. As students study the layers of the skin (epidermis and dermis) and joints, some attention should be paid to the role of collagen. Collagen is a protein which provides strength and elasticity and is very important.
Activity:
Have students research in groups, the role of collagen in the body. Once they understand its importance have them hypothesize what the effects would be on an individual whose collagen did not function properly. After some discussion allow students to research Ehlers-Danlos Syndrome. There are many resources available on the Internet. Once they have learned what really happens to individuals with faulty collagen have them compare their hypotheses to the conclusions. Did anyone predict fragile skin? What about hyper flexible joints? Can your class now understand how important the role is of every protein in the body?
For more information visit Online Mendelian Inheritance in Man or the Ehlers-Danlos National Foundation
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