What genetic defect is seen in Ehlers-Danlos syndrome?

Ehlers-Danlos syndrome (EDS) is a group of connective tissue disorders characterized by hypermobility of joints, skin elasticity, and tissue fragility. The subtype of EDS that is commonly associated with a defect in type III collagen is hypermobility EDS, which is characterized by joint hypermobility and a tendency to bruise easily due to skin fragility. Type III collagen is particularly important in supporting the structure of various connective tissues throughout the body.

In addition to the hypermobility subtype, other subtypes of EDS can be linked to different collagen defects, but the overall presentation of classic hypermobility EDS can be predominantly attributed to abnormalities in type III collagen. This emphasizes the critical role of collagen in maintaining the integrity and strength of connective tissues, and how a defect in such a vital component can lead to the characteristic symptoms seen in EDS.

Understanding the specific collagen involved is crucial in diagnosing and managing the condition, as it has implications for treatment and genetic counseling.