The Clinical Presentation of Ehlers-Danlos Syndrome

Elizabeth J. Lawrence, RNC, MSN, NNP

Disclosures

Adv Neonatal Care. 2005;5(6):301-314. 

In This Article

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.[8]

Comments

3090D553-9492-4563-8681-AD288FA52ACE
Comments on Medscape are moderated and should be professional in tone and on topic. You must declare any conflicts of interest related to your comments and responses. Please see our Commenting Guide for further information. We reserve the right to remove posts at our sole discretion.
Post as:

processing....