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Ehlers–Danlos syndromes (EDS) are a group of 13 genetic connective-tissue disorders. [7] Symptoms often include loose joints, joint pain, stretchy velvety skin, and abnormal scar formation. [ 1 ] These may be noticed at birth or in early childhood. [ 3 ]
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.
The Ehlers–Danlos Society zebra logo is derived from a common expression heard in medicine, "When you hear hoofbeats behind you, don't expect to see a zebra." [ 8 ] In other words, medical professionals are typically taught to look out for more-common ailments rather than uncommon or rare diagnoses.
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.
Occipital horn syndrome (sometimes called X-linked cutis laxa or Ehlers-Danlos type 9 [10]) is a mild form of Menkes syndrome that begins in early to middle childhood. It is characterized by calcium deposits in a bone at the base of the skull ( occipital bone ), coarse hair, and loose skin and joints.
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.
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Ehlers-Danlos Society; H. Hypermobility (joints) S. Swan neck deformity This page was last edited on 17 November 2023, at 16:11 (UTC). Text is available under the ...