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In 2017, 13 subtypes of EDS were classified using specific diagnostic criteria. [5] According to the Ehlers–Danlos Society, the syndromes can also be grouped by the symptoms determined by specific gene mutations. Group A disorders are those that affect primary collagen structure and processing.
The Ehlers–Danlos Society is an international nonprofit organization dedicated to patient support, scientific research, advocacy, and increasing awareness for the Ehlers–Danlos syndromes (EDS) and hypermobility spectrum disorder (HSD). [1] The society has organized multiple events around the world in an attempt to raise awareness for EDS ...
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 ...
The Ehlers-Danlos Society listed these possible warning signs: loose, overly flexible or unstable joints. joint pain. soft, stretchy, fragile skin that tears or bruises easily. slow and poor wound ...
In the case of a VUS, testing of dermal fibroblast culture is used for an accurate diagnosis. [6] Bethlem myopathy 1 is a rare disease, affecting about 1 in 200,000 people. [8] Bethlem myopathy 2 is an ultra-rare disease, affecting less than 1 in 1,000,000 people. [9] The condition was described by J. Bethlem and G. K. van Wijngaarden in 1976. [10]
In comparison to the diagnostic criteria of hypermobile Ehlers–Danlos syndrome, the criteria for hypermobile spectrum disorder are less strict. However, these criteria are differentiated from criteria of other EDS types and therefore its less-strict criteria are only comparable to the criteria of hEDS. As those with HSD experience a ...
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 .
Ehlers-Danlos syndrome: [4] Marfanoid habitus is generally associated with kyphoscoliotic Ehlers-Danlos. Snyder–Robinson syndrome at SMS, whose incidence is about 1 in 5,000-10,000 in all ethnic groups; Perrault syndrome : Marfanoid habitus is a nonspecific feature of Perrault syndrome.