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Wednesday, Dec 03, 2008 | 02:19 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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Alström Syndrome
Alström-Hallgren Syndrome, Alstroem's Retino-Otodiabetic Syndrome
Alström syndrome is a rare inherited disorder characterized by blindness, juvenile onset diabetes mellitus, obesity, and deafness. In some cases, people with Alström syndrome also experience developmental delay, academic difficulties, and problems with language skills. However, these deficits may partially be a result of the severe sensory deficits characteristic of the syndrome. Alström syndro...
Alveolar Soft-Part Sarcoma (ASPS)
Alveolar soft part sarcoma (ASPS) is a very rare, slow-growing tumor that arises in soft tissues. ASPS is malignant, meaning it can spread and invade other tissues. ASPS is only found in 1 percent of all sarcomas (cancerous growths of the soft tissue), and sarcomas themselves are only 1 percent of all cancers, so there isn’t a great deal of information available about it. There are fewer than 1...
Ambiguous Genitalia
Intersex
Also known as “intersex”, the presence of ambiguous genitalia describes any condition in which the physical appearance of the genitalia prevents clear designation of sex in a child, often initially noticed in a newborn but occasionally not discovered until later in life around the time of puberty.
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Androgen Insensitivity Syndrome (AIS)
Testicular Feminization
Androgen insensitivity syndrome (AIS) is a disorder found in individuals who are genetically male (have one X and one Y chromosomes, XY). Individuals with AIS have a defect in a cell structure called androgen receptors and, thus cannot respond to androgens, or male sex hormones. As a result, these genetically male individuals develop the physical characteristics of a female. Patients with AIS a...
Angelman Syndrome
Angelman syndrome is a genetic disorder that is characterized by severe learning difficulties, seizures, uncoordinated movements, and a very happy demeanor.
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