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Thursday, Nov 20, 2008 | 06:47 PM
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
Methemoglobinemia
Blue Baby Syndrome, Hemoglobin M Disease
Methemoglobinemia is a condition in which hemoglobin (the molecule in blood that carries oxygen) is defective and cannot carry oxygen. Iron molecules are normally present in hemoglobin in the chemically “reduced” state. Only in this state can they carry oxygen. In methemoglobinemia, the heme iron is in the “oxidized” state in which it is chemically impossible for it to carry oxygen. Furthermo...
Miller Syndrome and Nager Syndrome
Postaxial Acrofacial Dysostosis and Preaxial Acrofacial Dysostosis
Both Miller and Nager syndromes are rare genetic conditions that are characterized by face, arm and leg abnormalities. The defects found with these disorders result from problems with development of the structures that play a role in the formation of the face, ears and neck. The structures involved are named the first and second pharyngeal arches. This error in development is likely to occur earl...
Miller-Dieker Syndrome
Miller-Dieker Lissencephaly Syndrome, Agyria Syndrome, Agyria-pachygyria Syndrome
Miller-Dieker syndrome is a genetic disorder involving the incomplete development of the brain. This disorder is characterized by lissencephaly, which is an increased smoothness of the brain's surface. Normally, the brain's surface is not smooth and has many distinct grooves and folds. Individuals with Miller-Dieker syndrome also have a certain facial appearance, a small head, delayed gr...
Mixed Connective Tissue Disease (MCTD)
Mixed Connective Tissue Disease (MCTD) is a disease in which the those affected have a collection of signs and symptoms that appear to be several different disorders that overlap one another: systemic lupus erythematosus (SLE) (causes antinuclear antibodies), rheumatoid arthritis (causes joint pain), scleroderma (causes hardening of skin) and polymyositis (causes muscle inflammation). There are s...
Moebius Syndrome
Mobius Syndrome, Congenital Facial Diplegia, Congenital Oculofacial Paralysis
Moebius syndrome is a very rare disorder characterized by congenital (present from birth) paralysis of the facial and eye muscles. This results in the inability to smile, frown, blink or move the eyes. This syndrome was first described by Mobius in 1888.
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