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Wednesday, Dec 03, 2008 | 01:18 PM
Madisons Foundation - Moms And Dads In Search Of Needed Support
m-Power® Rare Pediatric Disease Database
Full disease list by letter:
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Fragile X Syndrome
Martin-Bell syndrome, Marker X syndrome, FRAXA, X-linked mental retardation
Fragile X syndrome is a genetic disorder and the leading cause of inherited mental retardation. Children with this syndrome often have significant delays in learning, autistic-like behavior, hyperactivity, and a distinctive physical appearance. The term “fragile X” comes from the finding that the X chromosomes of affected individuals have a fragile site that causes the chromosome to break under ce...
Free Sialic Acid Storage Disease
Infant sialic acid storage disease, Salla disease
The free sialic acid storage diseases are a spectrum of rare, inherited, neurodegenerative disorders that are a result of the abnormal accumulation of a compound known as sialic acid within the body. There are several forms of this disease ranging from the mildest type known as Salla disease to the most severe known as infantile sialic acid storage disease (ISSD).
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Freeman Sheldon Syndrome
Whistling face syndrome, craniocarpotarsal dystrophy
Freeman-Sheldon syndrome (FSS) is a rare, inherited, genetic disorder characterized by the combination of skeletal malformations and unique facial features. First described in 1938, children with FSS have skeletal malformations in the hands, feet, and skull. ...
Friedreich Ataxia
Friedreich's Ataxia is a rare, inherited, neurodegenerative genetic disease in which there is a slow and progressive loss of coordination and the ability to walk. It is characterized by poor balance, uncoordinated movements, difficulty with speech, loss of reflexes, and problems with the sensory system. This disease can also affect the heart, the spine and cause diabetes.
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Fructose 1,6-Diphosphatase Deficiency
Baker-Winegrad Disease
Fructose 1,6-Diphosphatase (FDPase) deficiency is a rare and inherited condition where the body is not able to break down fructose in the diet. FDPase is characterized by hypoglycemia, or low blood sugar, during periods of fasting. Fructose is the sugar found in fruits and is made up of glucose, a simple sugar. The body normally uses glucose as its main source of energy. During fasting, blood gluc...
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