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 …
Read More »Turner Syndrome – Symptoms, Risk Factors and Treatment.
Definition Turner syndrome is a chromosomal condition that alters development in females. Women with this condition tend to be shorter than average and are usually unable to conceive a child (infertile) because of an absence of ovarian function. Other features of this condition that can vary among women who have …
Read More »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 …
Read More »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 …
Read More »Gaucher Disease – Causes, Complications and Treatment.
Definition Gaucher 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 his …
Read More »Dercum’s Disease – Causes, Complications, and Diagnosis.
Description Dercum’s disease is an extremely rare disorder characterized by multiple, painful growths consisting of fatty tissue (lipomas). These growths mainly occur on the trunk, the upper arms and upper legs and are found just below the skin (subcutaneously). Pain associated with Dercum’s disease can often be severe. Pain may …
Read More »Noonan’s Syndrome – Symptoms, Diagnosis and Medications.
Definition Noonan’s syndrome is a genetic disorder that prevents normal development in various parts of the body. A person can be affected by Noonan syndrome in a wide variety of ways. These include unusual facial characteristics, short stature, heart defects, other physical problems and possible developmental delays. Noonan’s syndrome History …
Read More »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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