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Thursday, Nov 20, 2008 | 08:34 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
Dubin-Johnson Syndrome
Dubin-Johnson syndrome (DJS) is a very rare, inherited liver disorder characterized by jaundice, or yellowing, of the skin. It is a benign condition caused by a defective protein in the liver, which results in the accumulation of bilirubin in the skin and whites of the eyes. Bilirubin is a yellow chemical formed from the breakdown of red blood cells. It is normally taken up by the liver and excret...
Dubowitz Syndrome
Dubowitz syndrome is a rare, inherited, genetic disorder that is characterized by unique facial features, growth delay while the fetus is still in the uterus (intrauterine), mental retardation, and eczema.
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Duchenne Muscular Dystrophy
Pseudohypertrophic muscular dystrophy
Duchenne muscular dystrophy (DMD) is an inherited disorder of muscle that usually presents in early childhood with delay in reaching motor milestones. Initial symptoms include delays in sitting and standing independently. This disease causes muscle weakness that leads to a waddling walk and difficulty climbing. It was first described by the neurologist Guillaume Duchenne in the 1860s and is now ...
Dysautonomia
Riley-Day Syndrome, Familial dysautonomia
Dysautonomia syndrome is a rare, inherited, genetic disorder that is characterized by the abnormal development and survival of nerve cells in the body. Affected nerve cells gradually lose their function, which causes the many organs and muscles of the body to function improperly. ...
Dyskeratosis Congenita (DC)
Dyskeratosis congenita (DC) is a genetic disorder characterized by 3 groups of symptoms. The first symptom is hyperpigmentation (darkening of skin color) or hypopigmentation (absence of skin color). The second symptom is a progressive nail dystrophy (abnormal nail formation). The third symptom is a change in the mucous membranes inside of the mouth, eyes, lips, and anus that look like white patche...