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ehlers-danlos syndrome
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ehlers-danos syndrome, group of inherited disorders characterized, excessive looseness, laxity, the joints, hyperelastic skin that is fragile, bruises, damaged blood vessels, syndrome sometimes involves rupture of internal organs, six major types, characterized by distinctive features,
ehlers-danlos syndrome, eds, occur in different forms, involving blood vessels, skin, joints, a variety of different genetic defects, a variety of genetic mutations cause abnormality in collagen, collagen provides structure, strength to connective tissue in skin, bone, blood vessels, internal organs, different forms of eds have different modes of inheritance, family history, risk factor incidence is 1 in 400,000, in the usa, joint dislocation, subluxation, joint pain, increased joint mobility, joints popping, early arthritis, double-jointedness, flat feet, bruised, stretchy skin, very soft, velvety skin, easy scarring, poor wound healing, premature rupture of membranes at birth, visual difficulties,
examination by the health care provider, excess joint laxity, joint hypermobility, soft, thin, hyperextensible skin, mitral valve prolapse, periodontitis, signs of platelet aggregation failure, platelets, not clump together properly, rupture of intestines, uterus, eyeball, seen only in vascular eds, is rare, deformed cornea, collagen typing, performed on a skin biopsy sample, collagen gene mutation testing, lysyl hydroxylase, oxidase activity, echocardiogram, heart ultrasound, , no specific cure, ehlers-danlos syndrome, individual problems, symptoms must be evaluated, cared, appropriately, physical therapy, evaluation by a physician specializing in rehabilitation medicine is needed,
people, eds generally have a normal life span, intelligence is normal, patients, the rare vascular type of eds, at significantly increased risk, rupture of a major organ, blood vessel, patients therefore have a high risk of sudden death, , failure of surgical wounds to close, stitches tear out, chronic joint pain, early-onset arthritis, rupture of major vessels, a ruptured aortic aneurysm, in vascular eds, rupture of a hollow organ uterus, bowel, in vascular eds, rupture, the eyeball, premature rupture of membranes, pregnancy,
call, family history of ehlers-danlos syndrome, risk, planning to conceive a child, child has symptoms of ehlers-danlos syndrome, , genetic counseling, prospective parents, a family history of ehlers-danlos syndrome, parents, aware, the type of ehlers-danlos syndrome they have, its mode of inheritance, determined, testing, evaluation suggested by health care provider, genetic counselor, significant risks to health, identification of risk, prevent severe complications by vigilant screening, lifestyle alterations.
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