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 …

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 …

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 …

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 …

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 …

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 …

Definition Duane syndrome (DS) is a rare, congenital disorder of eye movement. In most patients, DS is diagnosed by the age of 10 years. DS is a miswiring of the eye muscles that cause some eye muscles to contract when they should not and other eye muscles not to contract …

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 …