Introduction to Connective Tissue Disorders in Children

Connective tissue is the structural framework of the body composed of extracellular matrix components (eg, collagen, elastin, proteoglycans) that provides support, structure, and protection to other organs and tissues.

Some connective tissue disorders involve primary biochemical abnormalities or structural defects and are known to be genetic, whereas others are of unknown etiology. These disorders include:

• Cutis laxa

• Ehlers-Danlos syndromes

• Marfan syndrome

• Nail-patella syndrome

• Osteochondrodysplasias

• Osteogenesis imperfecta

• Pseudoxanthoma elasticum

Other disorders involve acquired chondromalacia or tendinopathy related to abnormal biomechanics and/or overuse:

• Chondromalacia patellae

• Infrapatellar tendinitis