Ehlers-Danlos syndrome

 A genetic disorder characterized by extremely fragile and sagging skin

 caused by mutation in the ADAMTS2 gene. People with this form of Ehlers-Danlos syndrome have soft, doughy skin that is very fragile and bruises easily. The skin sags andwrinkles, and extra (redundant) folds of skin may be present as children get older. Joints are very loose, which can delay the development of motor skills such as sitting, standing, and walking. Infants with the condition are born with a soft out-pouching called a hernia around the belly-button. Other symptoms include a small chin, a blue tinge to the part of the eyeball that is usually white (the sclera), and mild overgrowth of body hair.

The ADAMTS2 gene makes an enzyme that helps process procollagen, a protein used to assemble collagen that provide structure and strength to connective tissue throughout the body. Mutations in the ADAMTS2 gene completely inactivate the enzyme made by the gene. As a result, procollagen is not processed, and collagen molecules cannot be assembled properly. These defects weaken connective tissue, particularly in the skin, causing the signs and symptoms of the condition.

This type of Ehlers-Danlos syndrome is inherited in an autosomal recessive manner. It was formerly called Ehlers-Danlos syndrome type VIIC.

Το άρθρο είναι από http://www.medterms.com