![]() ![]() Other rare forms of Ehlers-Danlos syndrome result from variants in other genes. PLOD1 or FKBP14 gene variants result in the kyphoscoliotic type. The dermatosparaxis type is caused by variants in the ADAMTS2 gene. Most cases of the vascular type result from variants in the CO元A1 gene, although rarely this type is caused by certain COL1A1 gene variants. The cardiac-valvular type and some cases of the arthrochalasia type are caused by COL1A2 gene variants variants in the COL1A1 gene have also been found in people with the arthrochalasia type. Variants in the TNXB gene cause the classical-like type and have been reported in a very small percentage of cases of the hypermobile type (although in most people with this type, the cause is unknown). ![]() Variants in the COL5A1 or COL5A2 gene, or rarely in the COL1A1 gene, can cause the classical type. Variants (also known as mutations) in at least 20 genes have been found to cause the Ehlers-Danlos syndromes. The periodontal type causes abnormalities of the teeth and gums. Abnormalities of muscles, including hypotonia and permanently bent joints (contractures), are among the characteristic signs of the musculocontractural and myopathic forms of Ehlers-Danlos syndrome. The spondylodysplastic type features short stature and skeletal abnormalities such as abnormally curved (bowed) limbs. ![]() A type of Ehlers-Danlos syndrome called brittle cornea syndrome is characterized by thinness of the clear covering of the eye (the cornea) and other eye abnormalities. People with the kyphoscoliotic type experience severe curvature of the spine that worsens over time and can interfere with breathing by restricting lung expansion. The cardiac-valvular type causes severe problems with the valves that control the movement of blood through the heart. Other types of Ehlers-Danlos syndrome have additional signs and symptoms. Additional forms of Ehlers-Danlos syndrome that involve rupture of the blood vessels include the kyphoscoliotic, classical, and classical-like types. During pregnancy, women with vascular Ehlers-Danlos syndrome may experience rupture of the uterus. These complications can lead to easy bruising, internal bleeding, a hole in the wall of the intestine (intestinal perforation), or stroke. The dermatosparaxis type of the disorder is characterized by loose skin that sags and wrinkles, and extra (redundant) folds of skin may be present.īleeding problems are common in the vascular type of Ehlers-Danlos syndrome and are caused by unpredictable tearing (rupture) of blood vessels and organs. People with the classical form of Ehlers-Danlos syndrome experience wounds that split open with little bleeding and leave scars that widen over time to create characteristic "cigarette paper" scars. Affected individuals tend to bruise easily, and some types of the condition also cause abnormal scarring. Many people with the Ehlers-Danlos syndromes have soft, velvety skin that is highly stretchy (elastic) and fragile. In the arthrochalasia type of Ehlers-Danlos syndrome, infants have hypermobility and dislocations of both hips at birth. The loose joints are unstable and prone to dislocation and chronic pain. Infants and children with hypermobility often have weak muscle tone (hypotonia), which can delay the development of motor skills such as sitting, standing, and walking. The 2017 classification describes 13 types of Ehlers-Danlos syndrome.Īn unusually large range of joint movement (hypermobility) occurs in most forms of Ehlers-Danlos syndrome, and it is a hallmark feature of the hypermobile type. In 2017, the classification was updated to include rare forms of Ehlers-Danlos syndrome that were identified more recently. In 1997, researchers proposed a simpler classification (the Villefranche nomenclature) that reduced the number of types to six and gave them descriptive names based on their major features. Originally, 11 forms of Ehlers-Danlos syndrome were named using Roman numerals to indicate the types (type I, type II, and so on). ![]() The various forms of Ehlers-Danlos syndrome have been classified in several different ways. Defects in connective tissues cause the signs and symptoms of these conditions, which range from mildly loose joints to life-threatening complications. Ehlers-Danlos syndrome is a group of disorders that affect connective tissues supporting the skin, bones, blood vessels, and many other organs and tissues. ![]()
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