Ehlers-Danlos syndrome is essentially a collection of disorders that impact the connective tissues, which provide support for organs such as the skin, blood vessels and bones. Connective tissue defects cause the symptoms and signs of the Ehlers-Danlos syndrome; this ranges from life threatening complications to mildly loose joints.
In past years, in excess of 10 recognized varieties of Ehlers-Danlos syndrome existed. However, in 1997, a simpler classification was proposed by researchers which decreased the major types of the ailment to six and assigned descriptive names to them. They are:
Even though every type of Ehlers-Danlos syndrome affects the joints and a number of them affect the skin, the characteristics vary by type. Hypermobility, which is an unusually large joint movement range comes about with most types of Ehlers-Danlos syndrome, especially the hypermobility type. Frequently, infants who have hypermobile joints seem to have debilitated muscle tone and this could delay their motor skills development like walking, standing and sitting.
Loose joints are prone to early-onset arthritis, instability, chronic pain and dislocation. Dislocations which involve both hips are typically found in infants who have the arthrochalasia type of the syndrome.
A number of individuals who have Ehlers-Danlos syndrome have velvety, soft skin which is highly fragile and stretchy. Typically, affected individuals bruise quite easily and some of the condition types result in abnormal scarring as well. Individuals who have the classic form of the condition experience open wounds with a bit of bleeding and leave behind scars which ultimately widen to create characteristic shallow scars. Skin wrinkles and sag are the main characteristics of the dermatosparaxis type of the Ehlers-Danlos syndrome. Extra skin folds might be present as affected kids get older.
Notably the kyphoscoliosis and vascular types of Ehlers-Danlos syndrome can involve complications that are severe and potentially life threatening. There could be unpredictable rupturing of the blood vessels, which could lead to shock, internal bleeding and stroke.
Additionally, the vascular type of the syndrome is likely to increase incidences of organ rupture, which include rupturing of the uterus during pregnancy and tearing of the intestine. Individuals who have the kyphoscoliosis type of the condition experience progressive and severe curvature of the spine, which can hinder proper breathing.
Even though it is hard to provide a accurate estimation of the overall frequency of the syndrome, the collective prevalence of all forms of Ehlers-Danlos syndrome might be approximately 1 in every 5000 individuals globally. The classic and hypermobility forms are the most common, with the hypermobility type affecting up to 1 in 10000 to 15000 individuals and the classic type occurs in about 1 in 20000 to 40000 individuals.
The other types of Ehlers-Danlos syndrome are extremely rare. Globally, the arthrochalasia type has reported approximately 30 cases and the kyphoscoliosis type under 60 cases. Approximately 12 children and infants have been diagnosed with the dermatosparaxis type and the vascular type is rare as well.