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Thursday, Nov 20, 2008 | 10:49 AM
Madisons Foundation - Moms And Dads In Search Of Needed Support
m-Power® Rare Pediatric Disease Database
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Congenital Ichthyosis Erythroderma
Congenital Ichthyosis erythroderma (CIE) is a rare and hereditary skin condition characterized by dry, thick, fish-like scaling of the skin. “Ichthy” means fish in Greek. There are two types of CIE:
1. blistering; also called bullous or Epidermolytic Hyperkeratosis (EHK) and
2. non-bullous
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Congenital Parvovirus B19 Infection
Congenital Parvovirus B19 Infection (CPB19) is a rare infection of the fetus that occurs when the mother becomes infected with parvovirus B19 (PB19) during pregnancy. PB19 is a common infection in childhood and is known to cause Erythema Infectiosum, also known as “fifth disease.” Severe CPB19 infection can result in fetal death and miscarriage.
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Congenital Sideroblastic Anemia
X-linked Sideroblastic Anemia, Hereditary Iron-Utilization Anemia
The sideroblastic anemias are a group of rare blood disorders characterized by the bone marrow's inability to manufacture normal red blood cells. The main defect is a failure of red blood cell (RBC) precursors to use iron in hemoglobin synthesis, despite the availability of adequate iron stores. As a result, iron is deposited in these RBC precursors forming the characteristic “ringed siderob...
Congenital Sucrase-Isomaltase Deficiency
CSID, Disaccharide Intolerance
Congenital Sucrase-Isomaltase Deficiency, or CSID, is a disease caused by a genetic defect that leads to chronic watery diarrhea and growth failure in infants and toddlers.
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Cornelia de Lange Syndrome (CdLS)
Brachmann-de Lange Syndrome
Cornelia de Lange syndrome occurs in about 1 in 10,000 to 1 in 50,000 births. It occurs in all ethnic groups and equally in both males and females.
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