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Thursday, Nov 20, 2008 | 10:09 AM
Madisons Foundation - Moms And Dads In Search Of Needed Support
m-Power® Rare Pediatric Disease Database
Full disease list by letter:
3 | A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | R | S | T | U | V | W | X | Y | Z | All
3 | A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | R | S | T | U | V | W | X | Y | Z | All
Factor XIII Deficiency
Factor XIII deficiency is a very rare, inherited bleeding disorder similar to hemophilia. It was first described in 1960. The deficiency of the Factor XIII protein sets this disorder apart from Hemophilia A (Factor VIII deficiency), B (Factor IX deficiency), and C (Factor XI deficiency). ...
Familial Adenomatous Polyposis (FAP)
Familial adenomatous polyposis (FAP) is a genetically inherited condition that causes a minimum of 100 (but up to thousands) of polyps (small projections of tissue) on the inside wall of the intestines, specifically the large intestine, or colon. The polyps typically occur in teenage years or early adulthood and have a very high risk of turning into colon cancer if preventive measures are not tak...
Familial Cold Urticaria
Familial Cold Autoinflammatory Syndrome, Cold Hypersensitivity,
Familial Polymorphous Cold Eruptio
Familial cold urticaria is an inherited autoimmune disorder that consists of an often painful rash, fever, and joint pain after exposure to cold. It is considered to be a periodic fever syndrome, a class which includes familial Mediterranean fever. It should be distinguished from the more commonly seen acquired cold urticaria, which presents later in life as an immediate allergic response of itchy...
Familial Hemophagocytic Lymphohistiocytosis
FHL, FHLH
Familial Hemophagocytic Lymphohistiocytosis (FHL or FHLH) is an immune disorder characterized by uncontrolled activation of T cells, macrophages and NK (natural killer) cells, leading to a subsequent overproduction of inflammatory proteins (called cytokines). It is usually triggered by a viral infection and in most cases, the first signs include high fever, edema (swelling) and hepatosplenomegal...
Familial Hyperinsulinism (FHI)
Persistent hyperinsulinemic hypoglycemia of infancy, nesidioblastosis
Familial hyperinsulinism (FHI) is an inherited condition in infants and young children where there are episodes of spontaneous low blood sugar (hypoglycemia). These episodes are caused by excess secretion of insulin, one of the hormones that controls blood sugar. These episodes can show up in many different ways, ranging from poor feeding to convulsions (seizures).
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