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Menorrhagia, dysmenorrhea, and dyspareunia are common symptoms associated with Ehlers–Danlos syndrome [70] and are often mistaken for endometriosis. [70] Excessive menstrual bleeding can sometimes be attributed to inappropriate platelet aggregation, but faulty collagen leads to weakened capillary walls which increase the likelihood of ...
Kyphoscoliosis is one of the main criteria in kyphoscoliotic Ehlers–Danlos syndrome. It is caused by a mutation in the PLOD1 gene or FKBP14 [ 1 ] gene. The diagnosis is confirmed by molecular testing [ 2 ] and suggested when a patient meets criteria 1 and criteria 2: congenital muscle hypotonia and congenital or early onset kyphoscoliosis ...
What is Ehlers-Danlos syndrome? It’s actually a group of 13 related disorders caused by different genetic defects in collagen, an essential building block, according to the National Organization ...
Craniocervical instability is more common in people with a connective tissue disease, including Ehlers-Danlos syndromes, [1] osteogenesis imperfecta, and rheumatoid arthritis. [2] It is frequently co-morbid with atlanto-axial joint instability, Chiari malformation, [3] or tethered spinal cord syndrome.
Piezogenic papules on the heel of an individual with Ehlers–Danlos syndrome. Specialty: Dermatology: Symptoms: Multiple yellowish to skin-coloured small or large bumps, mostly painless; typically on heels and wrist [2] [3] Causes: Pressure [2] Risk factors: Obesity, flat feet, athletes, figure skaters, long-distance runners [3] Diagnostic ...
Occipital horn syndrome (OHS), formerly considered a variant of Ehlers–Danlos syndrome, [1] is an X-linked recessive mitochondrial and connective tissue disorder. It is caused by a deficiency in the transport of the essential mineral copper , associated with mutations in the ATP7A gene.
Bethlem myopathy 2 (BTHLM2), formerly known as myopathic-type Ehlers–Danlos syndrome, is caused by a mutation on the COL12A1 gene coding for type XII collagen. [3] It is autosomal dominant. [3] In 2017, an international workshop proposed a redefined criteria and naming system for limb-girdle muscular dystrophies.
Sack–Barabas syndrome (SBS) is an older name for vascular Ehlers–Danlos syndrome (vEDS). It is a medical condition, a subset of Ehlers–Danlos syndrome which especially affects the body's vascular system , including blood vessels and organs, and makes them prone to rupture.