Ehlers-Danlos

The Ehlers-Danlos syndromes (EDS) comprise a collection of inherited connective tissue disorders with variable clinical manifestations affecting the skin, ligaments, blood vessels, and internal organs. A wide range of severity exists, from mild skin and joint hyperlaxity to potentially life-threatening vascular complications. The most common orthopedic concerns are joint hypermobility and complications with wound healing. Hypotonia and delayed motor development may be presenting signs in the neonate and young child. Classification of the various subtypes has evolved along with understanding of the genetic basis of the disease, and the most recent classification scheme describes 13 subtypes, of which the hypermobile (hEDS) and classic subtypes are most common. Due to the various clinical presentations, diagnosis is often delayed. Treatment by a multidisciplinary team is recommended to address the involvement of multiple-organ systems. Joint hypermobility is managed with physical therapy, orthoses, and, in indicated es, surgical stabilization. There is a high rate of chronic pain and poor function in this challenging patient group.