Facial features associated with eds

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The Ehlers-Danlos syndromes EDS are a group of related disorders caused by different genetic defects in collagen. Collagen is one of the major structural components of the body. Collagen is a tough, fibrous, protein, and serves as a building block essential in both strengthening connective tissue e. The problems seen in patients with EDS can be due to either the poor strength of collagen.
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Forgotten Diseases Research Foundation | Ehlers-Danlos Syndrome, Classic (types 1 & 2)

Click on image for details. We report the clinical, radiological, biochemical, muscle histology, and electron microscopic features of two members of a family with combined Ehlers—Danlos syndrome EDS [classic and vascular type] and progressive myopathy as the primary manifestation. A year old lady presented with severe gluteal and thigh muscle pain and easy fatigability for 5 years. She developed weakness and wasting of pelvic and pectoral girdles and thighs for 3 years and severe neck flexor and truncal weakness for 6 months. She had a history of recurrent jaw dislocation, easy bruising with hyperpigmentation, hyperextensibility of joints, translucent skin, and papyraceous scars. She had high myopia with astigmatism. She had wasting of temporalis, masseters, sternocleidomastoids and trapezius.
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Ehlers-Danlos syndromes

Ehlers-Danlos syndrome is a condition that affects connective tissue particularly, collagen. Collagen is an abundant structural protein found in muscles, tendons, skin and bones. It can be thought of as both holding the body together and strengthening it. There are many subtypes of EDS.
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Efforts on recognition, diagnosis, and management of the presumed, most common connective tissue disorder hypermobile Ehlers-Danlos syndrome have been an ongoing challenge, even decades after the description of this condition. A recent international consortium proposed a revised Ehlers-Danlos syndrome classification, an update much needed since Villefranche nosology, in Hypermobile Ehlers-Danlos syndrome is the only subtype in these groups of syndromes with no known genetic cause s.

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