Ehlers-Danlos syndrome, Kyphoscoliotic type (type VI)
What is kyphoscoliotic Ehlers-Danlos syndrome?
Ehlers-Danlos syndrome (EDS) is a group of related, but distinct, genetic disorders. They affect connective tissue. Connective tissue is the material between the cells of the body that connects and supports different tissues and organs. It gives skin strength and elasticity. A structural protein called collagen is one of the major components in connective tissue. People with EDS have an unexpected change (or mutation) in one of the genes that is important in producing or processing collagen. Because of these gene changes, they do not produce or process collagen properly and their connective tissue does not develop in the right way.
There are six major subtypes of EDS. They are related, but separate disorders. Kyphoscoliotic Ehlers-Danlos syndrome is also known as EDS Type VI. It has the additional symptoms of kyphosis (hunchback) and scoliosis (sideways curve in the spine). Both are often present at birth, or occur early in infancy. They will get progressively worse over time.
Symptoms that are common to all types include loose skin that stretches more than normal, but is also fragile and can tear or bruise easily. The skin also heals poorly and usually leaves distinctive scars. Loose joints that can be flexed or bent farther than other people can is also common. Joints in EDS are usually prone to popping out of place (dislocation) and chronic pain.
SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/ehlers-danlos-syndrome-type-vi/overview/30601 • DATE UPDATED: 2018-01-09
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