AAA Syndrome: Causes, Symptoms and complications.

Introduction AAA syndrome is a rare autosomal recessive disorder characterized by adrenocorticotropic hormone (ACTH)-resistant adrenal insufficiency, alacrima and achalasia. Primary adrenal insufficiency or also known as Addison disease, is caused by abnormal function of the small hormone-producing glands on top of each kidney (adrenal glands). The main features of Addison …

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Poland syndrome: definition, symptoms and risk factors

Definition Poland syndrome is a disorder in which affected individuals are born with missing or underdeveloped muscles on one side of the body, resulting in abnormalities that can affect the chest, shoulder, arm, and hand. The extent and severity of the abnormalities vary among affected individuals. History It was first …

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Hemophilia: causes, complications and prevention

Definition Hemophilia is an inherited bleeding disorder in which a person lacks or has low levels of certain proteins called “clotting factors” and the blood doesn’t clot properly as a result. This leads to excessive bleeding. Bleeding disorders are due to defects in the blood vessels, the coagulation mechanism, or …

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Gaucher Disease: causes, complications and treatment

Definition Gaucher (go-SHAY) disease is the result of a buildup of certain fatty substances in certain organs, particularly your spleen and liver. This causes these organs to enlarge and can affect their function. History It was in 1882 that a medical student in Paris called Philippe Gaucher first described in …

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Myotonic dystrophy: causes, treatment and prevention.

Definition Myotonic dystrophy is an inherited type of muscular dystrophy that affects the muscles and other body systems. People who have myotonic dystrophy have muscle wasting and weakness in their lower legs, hands, neck and face that get worse over time. Signs and symptoms of myotonic dystrophy usually develop when …

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Beckwith-wiedemann syndrome (bws): Causes, Complications, Risks and Treatment

Definition Beckwith Wiedemann Syndrome is a congenital overgrowth disorder usually present at birth. BWS is characterized by large body size, enlarged organs, macroglossia (enlarged tongue), midline abdominal wall defects (omphalocele/exomphalos, umblicial hernia, diastasis recti), neonatal hypoglycemia and greatly increased risk of childhood cancer, particularly liver and kidney tumors. Beckwith Wiedemann …

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Aneurysm: Causes, Complications and Treatment.

Definition About 13,000 deaths occur each year in the United States from aortic aneurysms. An aneurysm occurs when an artery’s wall weakens and causes an abnormally large bulge. This bulge can rupture and cause internal bleeding. Although an aneurysm can occur in any part of your body, they’re most common …

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Narcolepsy: causes, symptoms, treatment and prevention

Definition Narcolepsy is a chronic sleep disorder characterized by overwhelming daytime drowsiness and sudden attacks of sleep. People with narcolepsy often find it difficult to stay awake for long periods of time, regardless of the circumstances. Narcolepsy can cause serious disruptions in your daily routine. Sometimes, narcolepsy can be accompanied …

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