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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 ]
S oon, Geurts w ould be diagnosed with Ehlers-Danlos syndrome, a connective tissue disorder that can affect the way collagen is processed. Collagen helps maintain the structure of the human body ...
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.
This feature can occur on its own with no underlying health problems, or it can be associated with certain medical conditions, including Marfan syndrome, [1] Ehlers–Danlos syndromes, [2] Loeys–Dietz syndrome, and homocystinuria. [3]
Ehlers-Danlos syndrome is a genetic disorder in humans and animals which can cause connective tissue disorders, hyper mobility, bruising, and a range of other issues. In cats it cause limb ...
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 ...
Category for individuals who have or had Ehlers–Danlos syndromes. Pages in category "People with Ehlers–Danlos syndrome" The following 34 pages are in this category, out of 34 total.
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.