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Thursday, Aug 28, 2008 | 12:57 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
Caffey Disease
Infantile Cortical Hyperostosis
Caffey disease is a rare condition which presents most commonly in infants. It is characterized by a triad of symptoms including boney changes, soft tissue swelling and irritability. In Caffey disease an inflammatory process of unknown cause occurs, leading to the abnormal changes in the bone and the surrounding soft tissues. Caffey disease is thought to exist in two forms, familial (inherited gen...
Canavan Disease
Aspartoacylase deficiency, Von Bogaert-Bertrand disease
Canavan disease is a rare, inherited disease of the brain and nervous system which results in progressive loss of function. Developmental delays usually begin in early infancy and progress to severe disability in the early teen years requiring complete assistance with activities of daily living.
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Carbamoyl Phosphate Synthetase One Deficiency
CSP1
Carbamoyl phosphate synthetase one (CPS1) deficiency is a rare, inherited disorder that affects the metabolism of nitrogen. Nitrogen is found mostly in proteins and amino acids that we eat or from the breakdown of proteins in our muscles when we are sick. Nitrogen from these sources is usually in the form of ammonia (a special molecule). Ammonia must be removed and to do so it must first be con...
Carney Complex
NAME syndrome, LAMB syndrome,
Adrenocortical nodular dysplasia,
Carney myxoma-endocrine complex Ca
Carney complex is a rare, inherited, genetic disorder that is part of the group of diseases called the lentiginoses. This condition is characterized by multiple myxomas (type of tumor) involving the skin, heart, nerves, and endocrine organs, as well as pigmented spots on the skin and mucous membranes.
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Caroli Disease
Caroli Syndrome
Caroli Disease is a rare inherited disorder of the digestive system characterized by an abnormal widening of the ducts that carry bile from the liver. Bile is a liquid substance that is made in the liver, stored in the gall bladder, and released into the intestines to aid in the digestion and absorption of fats and other substances. The enlarged bile ducts in Caroli Disease may cause irritation, i...