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Diseases » Ehlers-Danlos syndrome » Glossary

Glossary for Ehlers-Danlos syndrome

Angioid streaks: Streaks that radiate out from the optic nerve head under the retina. The streaks may be red, brown or grey. The streaks resemble blood vessels and hence the term angioid. The streaks represent tiny breaks in the elastic membrane of the retina (Bruch's membrane). The anomaly is often associated with conditions such as Paget's disease, sickle cell anemia, Ehlers-Danlos syndrome and pseudoxanthoma elasticum.
Bladder diverticulum: A defect where a part of the bladder lining forms a pouch in the muscle wall of the bladder. The defect may be congenital or acquired through conditions such as infection and urinary tract obstruction. The size of the diverticulum will determine the severity of the disorder with mild cases being asymptomatic.
Blood vessel symptoms: Symptoms affecting the blood vessels
Blue sclerae: Blue colouring of the sclerae in the eye.
Connective tissue disorders: Any condition affecting connective tissues.
Gastrointestinal bleeding: Internal bleeding in the digestive tract
Genetic Disease: Any disease that is handed down to oneself through the chromosomes of ones parents
Healing symptoms: Impaired healing of body damage.
Heritable Disorders of Connective Tissue: Genetic inheritable connective tissue disorders.
Joint hypermobility: Increased movement of the joints with a predisposition to being dislocated.
Joint symptoms: Symptoms affecting the joints.
Lens dislocation: The dislocation of the lens of the eye
Marfan syndrome: A genetic connective tissue disorder involving a defect of chromosome 15q21.1 which affects the production of the fibrillin needed to make connective tissue.
Optic atrophy: Dysfunction of the optic nerve which results in impaired vision. The disorder may be congenital or acquired. The rate and degree of atrophy is greatly variable depending on the cause.
Osteoarthritis: Osteoarthritis is a chronic condition characterised by mechanical disrturbances due to degradation of joints. It is the most common form of arthritis, and the leading cause of chronic disability.
Pneumothorax: Air in the pleural spaces around the lungs.
Skin texture changes: Changes to skin texture or consistency.
Weak skin: Weakening of the skin texture.