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Ehlers–Danlos syndromes (EDS) ... a thin nose and lips, and ears without lobes. [32] Joint hypermobility is present, but generally confined to the small joints ...
Hypermobile Ehlers–Danlos syndrome and hypermobility spectrum disorders may be equally severe. [5] [6] HSD is further classified into different subtypes, which include: [6] Generalized HSD (G-HSD): Involves widespread joint hypermobility affecting multiple joints. Localized HSD (L-HSD): Limited to a few joints, without generalized involvement.
Ehlers–Danlos syndrome is a genetic disorder caused by mutations or hereditary genes, but the genetic defect that produced hEDS is largely unknown. In conjunction with joint hypermobility, a common symptom for hEDS is smooth, velvety, and stretchy skin; a symptom largely unique to the syndrome. When diagnosing hEDS, the Beighton Criteria are ...
Basically, after seeing like 100,000 doctors, I got diagnosed with Ehlers-Danlos syndrome, Sjögren’s syndrome, mast cell activation syndrome, POTS." The singer said they were on a treatment ...
However, if there is widespread laxity of other connective tissue, then this may be a sign of Ehlers–Danlos syndrome, Down syndrome, Klippel–Feil syndrome, juvenile idiopathic arthritis, Larsen syndrome, Marfan syndrome, osteogenesis imperfecta, and other medical conditions. [1] [2]
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 .
Loeys–Dietz syndrome (LDS) is an autosomal dominant genetic connective tissue disorder. It has features similar to Marfan syndrome and Ehlers–Danlos syndrome. [3] [4] [5] The disorder is marked by aneurysms in the aorta, often in children, and the aorta may also undergo sudden dissection in the weakened layers of the wall of the aorta.
Absence of the inferior labial frenulum and/or the lingual frenulum is associated with the classical and hypermobility types of Ehlers-Danlos syndrome, but can also be absent in those without any underlying medical conditions.