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Wednesday, Dec 03, 2008 | 01:20 PM
Madisons Foundation - Moms And Dads In Search Of Needed Support
m-Power® Rare Pediatric Disease Database
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Bardet-Biedl Syndrome (BBS)
Bardet-Biedl syndrome (BBS) is a rare genetic disorder characterized by mental disabilities, retinal dystrophy (visual disturbances, usually appearing in individuals when they are 10 to 20 years of age), malformed extremities, functional and structural kidney problems, small gonads (in males), and obesity.
BBS has been known since the early 1920s and was formerly grouped with Laurence-Moon syndr...
Bare Lymphocyte Syndrome
Bare lymphocyte syndrome is a rare inherited immune disease that is one form of a more general disorder known as severe combined immunodeficiency (SCID). SCID is known to cause severe T and B-cell dysfunction where the lymphocyte cell number is either normal or slightly reduced. T and B cells are immune system cells that play a vital role in defending the body against everyday attacks by viruses ...
Bartter syndrome
In Bartter syndrome, there is a defect in the way the kidneys work. Usually the kidneys filter the blood and make sure that the right levels of electrolytes are present in the blood, which is important for the normal functioning of the body. The electrolytes in the blood include sodium, potassium, and chloride. Since the kidneys don’t work correctly in this syndrome, it leads to alkaline blood tha...
Basilar Invagination
Basilar Impression
Basilar invagination is a disorder in which the base of the skull is not formed correctly. As a result, the upper tip of the spine tends to protrude into the area where the spinal cord leaves the brain, and can cause pressure in this area. Basilar invagination and basilar impression are not exactly the same, but the signs, symptoms and treatment are almost identical.
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Batten Disease
Neuronal ceroid lipofuscinosis:
Santavuori-Haltia, Jansky-Bielschowsky,
Spielmey-Voght-Sjogren, K
Batten Disease, or neuronal ceroid lipofuscinosis (NCL), is a rare condition characterized by progressive mental deterioration (dementia), epilepsy and vision loss. It results when lipofuscin, a substance made of fat and protein, builds-up in brain cells and causes them to die off. Batten disease was named after the British pediatrician who first described it in 1903. There are four main types of ...
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