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Thursday, Nov 20, 2008 | 11:19 PM
Madisons Foundation - Moms And Dads In Search Of Needed Support
m-Power® Rare Pediatric Disease Database
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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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Familial Mediterranean Fever (FMF)
Familial Paroxysmal Polyserositis, Periodic Fever, Periodic Peritonitis
Familial Mediterranean Fever (FMF) is a genetic disorder that causes recurrent fever and inflammation of the lining of the abdomen, joints, lungs, and rarely, the heart. Treatment with a medication named colchicine is effective for most people and is necessary to prevent the development of amyloidosis, a serious complication of this disease that can lead to kidney damage.
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Familial Paroxysmal Choreoathetosis
Familial Paroxysmal Choreoathetosis is a group of movement disorders which are characterized by episodes or attacks of involuntary movements of the arms and legs, body and face muscles. “Chorea” is a term that is used to describe the type of movements. Children with this disorder have irregular, rapid, uncontrolled and excessive movement that appears randomly from one part of the body to another....
Fanconi Anemia (FA)
Fanconi anemia (FA) is an inherited disorder that leads to progressive bone marrow failure. Bone marrow is the part of bone that produces blood cells and cells that function in the immune system. In FA, the bone marrow becomes unable to produce all of these types of cells. Fanconi anemia may also be associated with physical signs including alterations in skin pigment, short stature, and limb lengt...
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