The Clinical Presentation of Ehlers-Danlos Syndrome

Elizabeth J. Lawrence, RNC, MSN, NNP


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

In This Article

Classification and Prevalence of EDS

Originally there were 10 different classifications of EDS. These classifications were reorganized in 1997 into 6 major types of EDS and an "other types" category was created that encompasses a potpourri of rare forms of EDS that did not fit into the major types ( Table 1 ).[1,2,3,4,5,6,7,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36,37,38,39,40,41,42,43,44,45,46,47] This reclassification was aided by the ability to perform biochemical testing. The hypermobility and classical types of EDS are the most common forms of the disorder; however, they are difficult to diagnose in the infant or young toddler due to the general flexibility that all children possess.[7,25]

The estimated overall prevalence of EDS is 1 in 5000, depending on type.[2,3,7,11] It affects males and females of all racial and ethnic backgrounds equally.[5,6] Classical-type EDS occurs in 1 in 10,000 to 1 in 20,000 infants; it is one of the more common forms.[3,10] The EDS gene types may be inherited via autosomal dominant, autosomal recessive, or x-linked patterns of inheritance.[1]

The vascular and kyphoscoliosis types of EDS have more prominent characteristics present at birth and carry the poorest prognosis if unrecognized or untreated.[1,26,27,28] Facial features in infants with vascular-type EDS could provide clues to the diagnosis and prompt a more focused physical examination and detailed family history. It is also important to identify any sudden or unexpected deaths in first-degree relatives (parents, siblings, offspring).[1] In individuals affected by vascular-type EDS, the average age for arterial rupture is 23 years and the median age of death is 48 years.[28] If EDS is suspected, genetic counseling needs to be provided to the family.


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.