Abstract and Introduction
Ehlers-Danlos syndrome (EDS), a heterogeneous group of inheritable connective tissue disorders, is attributed to mutations in connective tissue genes. These mutations cause defects in collagen. Collagen, a connective tissue protein that acts like glue, gives strength to the body and provides support and elasticity for movement. Thus, the altered gene affects the mechanical properties of skin, joints, ligaments, and blood vessels. Ehlers-Danlos syndrome is transmitted through autosomal dominant, autosomal recessive, or x-linked patterns of inheritance. The life expectancy of an affected infant varies with the type of EDS. This article provides an overview of the 6 major classifications of EDS, their unique clinical presentations, a focused physical assessment guide, considerations for nursing care, and resources for parents. Ehlers-Danlos syndrome can be a potentially debilitating syndrome. It requires preventative and protective measures starting at birth to preserve joint function to improve infant outcomes. Caring for patients with EDS requires an understanding of the potential associated complications to help minimize the physical and emotional impact of the syndrome and improve the quality of life for affected individuals.
Ehlers-Danlos syndrome (EDS) is a group of heterogeneous connective tissue disorders involving the skin, organs, and joints.[1,2,3,4,5,6,7] The syndrome is named after Edvard Ehlers, a Danish dermatologist, and Henri-Alexandre Danlos, a French dermatologist, who presented the cases of patients with knee subluxations, joint lesions, hyperextensible skin, and joint laxity to the Paris Society of Syphilology and Dermatology in 1899 and 1908, respectively.[4,8] In 1936, English physician, Frederick Parkes-Weber suggested that the disorder be named Ehlers-Danlos syndrome.
Adv Neonatal Care. 2005;5(6):301-314. © 2005 W.B. Saunders
Cite this: The Clinical Presentation of Ehlers-Danlos Syndrome - Medscape - Dec 01, 2005.