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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 ...

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. ...

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, or CSID, is a disease caused by a genetic defect that leads to chronic watery diarrhea and growth failure in infants and toddlers. ...

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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Full disease list by letter:
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