Giant axonal neuropathy is a rare, autosomal recessive neurological disorder that causes disorganization of neurofilaments. Neurofilaments form a structural framework that helps to define the shape and size of neurons and are essential for normal nerve function.
Giant cell myocarditis is a very rare disease that is difficult to diagnose. The symptoms vary from simple fatigue to sudden death. Once a diagnosis is made it is easy to look back and connect these symptoms with giant cell myocarditis. But these same symptoms could have been due to a variety of non-life threatening conditions. Even if someone were taken to a hospital with minor unexplained symptoms a proper diagnosis would most likely not be made.
Congenital nevi appear on approximately 1 percent of newborns. A congenital nevus (plural: nevi) is a mole that is present at or develops shortly after birth. A distinction is made between small and giant nevi.
A rare benign type of tumor-like breast growth. The breast lumps usually cause no pain and are made up of fat, fibrous tissue and glandular tissue.
Giant papillary conjunctivitis (GPC) is eye irritation that can develop when you wear contact lenses, have severe allergic eye problems, or have a foreign body in your eye, such as a stitch from a previous eye surgery.
A large hairy pigmented area on the skin.
The Bernard-Soulier Syndrome (BSS) or giant platelet syndrome is a rare inherited bleeding disorder caused by abnormal platelets and subsequent abnormal clotting. It is one of the giant platelet syndromes. This syndrome was originally described in 1948 by two physicians who were treating a patient with a bleeding problem. They discovered that this patient had a prolonged bleeding time, fewer platelets, and larger platelets than the normal individual. Since then, the platelet abnormality has been described and determined to be due to the platelets lacking the ability to stick adequately to injured blood-vessel walls. This is a crucial aspect of the process of forming a blood clot, and as a result of this problem, there is abnormal bleeding.
Giardiasis (also called giardia infection, traveler's diarrhea, beaver fever or lambliasis) is an infection of the small bowel by a single-celled organism called Giardia lamblia. People become infected with the Giardia parasite after swallowing Giardia cyst often found in water contaminated by raw sewage or animal waste.
source: eMedicine
Langer-Giedion syndrome is a very rare genetic disorder caused by a deletion of chromosomal material. It is named after the two doctors who undertook the main research into the condition in the 1960s. Diagnosis is usually made at birth or in early childhood.
Gigantism is abnormally large growth due to an excess of growth hormone during childhood, before the bone growth plates have closed.
Gigantomastia is extreme growth of the breasts (i.e. 10 pounds per breast and more). Gigantomastia was first described in literature in 1648.[1] The condition is caused by over-sensitivity to the female hormones estrogen and progesterone, and/or an unusually high quantity of these hormones. Gigantomastia means bilateral benign progressive breast enlargement to a degree that requires breast reduction surgery to remove more than 4 lb of tissue on each side.[2] In severe cases women have breasts that weigh in excess of 20 lb each. The largest recorded weight was 67 lb per breast.
Gilbert syndrome is a relatively mild condition characterized by periods of elevated levels of a toxic substance called bilirubin in the blood (hyperbilirubinemia). Bilirubin, which has an orange-yellow tint, is produced when red blood cells are broken down. This substance is removed from the body only after it undergoes a chemical reaction in the liver, which converts the toxic form of bilirubin (unconjugated bilirubin) to a nontoxic form called conjugated bilirubin. People with Gilbert syndrome have a buildup of unconjugated bilirubin in their blood (unconjugated hyperbilirubinemia). In affected individuals, bilirubin levels fluctuate and very rarely increase to levels that cause jaundice, which is yellowing of the skin and whites of the eyes.
Idiopathic Gingival Fibromatosis (IGF) is a rare type of gingival enlargement. It appears as an isolated disorder or may sometimes be associated with other condi- tions like epilepsy, hypertrichosis and mental retardation45. It may also develop as a part of syndromes like Cowden's syndrome6,
A rare syndrome characterized by the association of thickened gums with unusual facial appearance.
Replacement of normal gum tissue with fibrous tissue.
Gitelman syndrome is a rare inherited defect in the distal convoluted tubule of the kidneys. It causes the kidneys to pass sodium, magnesium, chloride, and potassium into the urine, rather than allowing it to be resorbed into the bloodstream.
Glanders is an infectious disease that is caused by the bacterium Burkholderia mallei. Glanders is primarily a disease affecting
Glanzmann Thrombasthenia, or Thrombasthenia of Glanzmann and Naegeli is an extremely rare inherited disorder in which there is abnormal function of a component of the blood called the platelets, leading to abnormalities in blood clotting and increased bleeding.
Glanzmann thrombasthenia is a genetic platelet disorder in which the platelet glycoprotein IIb/IIIa (GP IIb/IIIa) complex is either deficient or present but dysfunctional. The genes of both of these proteins are on chromosome 17, and 50% activity of each protein is enough to support normal platelet aggregation. Defects in the GP IIb/IIIa complex leads to defective platelet aggregation and subsequent bleeding.
Glanzmann thrombasthenia is rare and it is inherited in an autosomal recessive pattern. The disorder was first described by Dr. Eduard Glanzmann in 1918.
When an injury occurs, the GP IIb/IIIa receptors play an important role in the adherence of platelets to the endothelium as well as have a role in platelet aggregation.
The GP IIb/IIIa complex binds fibrinogen and/or von Willebrand factor (vWF). Adjacent platelets are cross-linked through GP IIb/IIIa–fibrinogen–GP IIb/IIIa complexes. When the GP IIb/IIIa complex functions abnormally, platelets cannot aggregate. This then leads to increased bleeding.
The GP IIb/IIIa complex is a heterodimer that requires calcium for GP IIb and GP IIIa to associate normally, and both GP IIb and GP IIIa are required for normal platelet function. A defect in either glycoprotein can lead to a bleeding disorder. However, platelet counts do not depend on GP IIb/IIIa, and, therefore, patients with defects in these glycoproteins have normal platelet counts. The morphology of the platelets on a peripheral smear is not unusual.
A rare syndrome characterized mainly by short fingers, facial anomalies and premature fusion of skull bones giving the head an abnormal shape
Glassy cell carcinoma of the cervix, is a rare aggressive malignant tumour of the uterine cervix. The tumour gets its name from its microscopic appearance; its cytoplasm has a glass-like appearance.
A inherited form of open-angle glaucoma caused by a genetic mutation on chromosome 1p36.2-p36.1.
A rare genetic eye disorder involving glaucoma and iris anomalies and resulting infn vision loss.
A rare syndrome characterized by the association of sleep apnea with glaucoma.
A inherited form of open-angle glaucoma caused by a genetic mutation on chromosome 3q212-q24.
There are various forms of congenital glaucoma. Some arise in the context of other abnormalities (e.g. Reiger's syndrome, Sturge-Weber syndrome and neurofibromatosis) but the commonest type of infantile glaucoma is in fact primary congenital glaucoma. In 90% of cases, this is sporadic and in the remaining 10% of cases, there is an autosomal dominant pattern of inheritance
An inherited form of glaucoma - includes congenital glaucoma, juvenile glaucoma and adult open-angle glaucoma.