Ehlers-Danlos syndrome
Background
Ehlers-Danlos: Arthrochalasis-Multiplex Congenita; Cutis Hyperelastica; EDS
Ehlers-Danlos syndrome consists of several types of genetic connective tissue disorders. In general, these are due to collagen (a naturally occurring protein) abnormality. Common characteristics include abnormalities of the skin, ligaments and, in some instances, internal organs. Problems include fragile andIor stretchy skin, bruising, poor wound healing and loose joints, which are prone to dislocation and subluxation (partial dislocation). Chronic joint and limb pain is common even when skeletal radiographs are normal. Early degenerative arthritis, mitral valve prolapse and hernias may also present problems. Prematurity due to rupture of the fetal membranes can occur in pregnancy. When bruising presents in a child it may be incorrectly attributed to non-accidental injury.
These problems form the major difficulties bringing patients to the notice of Medical and Surgical Specialists. Many patients will be directed to Physiotherapy and Occupational Therapy for help with the musculoskeletal and ergonomic aspects.
The following issues are reported less frequently in those with EDS. However, they occur more frequently than in the non-EDS population. Hearing loss, ruptured ear drums, problems of making and maintaining voice alongside difficulties with articulatory development and maintenance of clarity are not uncommon. Difficulties with chewing and effective swallowing occur. Language development can be delayed. Many of these areas are affected by early ageing. Affected individuals will be directed to Speech & Language Therapists.
Types of ehlers-danlos syndrome ![]()