WebApr 4, 2024 · Ehlers-Danlos Syndrome (EDS) is a group of inherited connective tissue disorders that are caused by mutations in genes encoding the structure or processing of collagen. Collagen is a vital protein involved in connective tissue support, strength and elasticity of skin. WebEhlers-Danlos syndrome. More than 30 mutations in the PLOD1 gene have been found to cause a form of Ehlers-Danlos syndrome called the kyphoscoliotic type. Ehlers-Danlos syndrome is a group of disorders that affect the connective tissues that support the skin, bones, blood vessels, and many other organs and tissues.

Ehlers-Danlos Syndrome - EyeWiki

WebApr 11, 2016 · Brittle cornea syndrome (BCS) is characterized by blue sclerae, corneal rupture after minor trauma, keratoconus or keratoglobus, hyperelasticity of the skin, and hypermobility of the joints ( Al-Hussain et al., 2004 ). It is classified as a form of Ehlers-Danlos syndrome ( Malfait et al., 2024 ). miniature sandwiches

Kyphoscoliotic Ehlers-Danlos syndrome

WebEhlers-Danlos syndrome (EDS) is a condition where abnormalities of collagen production result in bruising, wide scars, laxity of joints and hyperelasticity of the skin. ... kyphoscoliotic, spondylodysplastic, and musculocontractural types of Ehlers-Danlos syndrome, as well as brittle cornea syndrome, are inherited in an autosomal recessive ... WebEhlers–Danlos syndrome (EDS) comprises a group of autosomal dominant disorders associated with hyperelasticity and fragility of the skin. More than 10 types of EDS have been described. A common feature of all types is a defect in collagen, including defects in collagen synthesis, secretion, and posttranslational modification. WebJun 16, 2003 · The brittle cornea syndrome (BCS) is a generalized connective tissue disorder characterized by corneal rupture following only minor trauma, keratoconus or keratoglobus, blue sclerae, hyperelasticity of the skin without excessive fragility, and hypermobility of the joints. miniature santa claus hats