What condition involves significant joint instability and hypermobility?

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Ehlers Danlos Syndrome Hypermobile is characterized by significant joint instability and hypermobility, which is a direct result of defects in connective tissue. This condition leads to a reduction in the strength and elasticity of collagen, which is essential for maintaining the stability of joints. Individuals with this syndrome often experience recurrent joint dislocations, chronic pain, and may have soft, velvety skin that is prone to bruising. The hypermobility can manifest in various joints throughout the body, contributing to a varied clinical presentation.

Hypermobile Ehlers-Danlos syndrome is considered the most common form of EDS, highlighting the importance of recognizing joint hypermobility as a key clinical feature. In contrast to other forms of Ehlers-Danlos syndrome, such as the classic form, hypermobile EDS does not involve significant skin abnormalities, which helps distinguish it from other connective tissue disorders. Marfan syndrome, on the other hand, primarily affects the cardiovascular system and skeletal features with some joint involvement but is more associated with tall stature and aortic dilation. Bicuspid aortic valve is a cardiac anomaly and does not relate directly to joint hypermobility or instability.

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