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Wednesday, Dec 03, 2008 | 12:06 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
Costello Syndrome
Costello syndrome is a rare genetic disorder and affected individuals have characteristic facial features, poor growth, delayed development, and mental retardation. They also may have loose skin on the neck, hands and feet. They may develop growths around their mouth and nose that are very characteristic of this disorder. Some children also have heart problems and varying other signs and symptom...
Cowden Disease
Cowden Syndrome, Multiple Hamartoma Syndrome
Cowden disease (CD) is a very rare inherited disorder characterized by multiple noncancerous growths, called hamartomas, on the skin and other parts of the body. People with CD have an increased risk of developing cancer in the breast and thyroid as well as in other parts of the body.
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Craniopharyngioma
A craniopharyngioma is a tumor that grows near the bottom of the brain. The tumor itself is benign; however, the involvement of key surrounding structures usually prompts parents to seek medical attention for their child. An important structure commonly affected is the pituitary gland, which serves as the body’s regulator of growth and sexual maturity. Children with craniopharyngiomas will usual...
Cri-du-chat Syndrome
Cat Cry Syndrome, Chromosome 5p deletion syndrome, 5p minus syndrome
Cri-du-chat (“cry of the cat” in French) syndrome describes a group of symptoms caused by a particular genetic anomaly (chromosomal deletion), with the most notable symptoms being mental retardation and the characteristic high-pitched cry of an affected newborn.
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Crigler-Najjar Syndrome (CNS)
Crigler-Najjar syndrome (CNS) is a rare, inherited disorder of bilirubin (a breakdown product of red blood cells) metabolism and has 2 distinct forms: type 1 and type 2. Both types cause jaundice (yellowing of the skin caused by high bilirubin). Type 1 is much more severe than type 2, and can cause brain damage because of the extremely high bilirubin level. Children with type 2 usually survive wi...