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Thursday, Nov 20, 2008 | 07:39 PM
Madisons Foundation - Moms And Dads In Search Of Needed Support
m-Power® Rare Pediatric Disease Database
Full disease list by letter:
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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
Short Chain Acyl CoA Dehydrogenase Deficiency (SCA
Acyl-CoA Dehydrogenase Deficiency, Short-Chain; Lipid-Storage Myopathy Associated with SCAD Deficien
Short Chain Acyl-CoA Dehydrogenase Deficiency (SCAD) is a condition in which the body cannot break down certain types of fats. When a person eats food with fat, the body stores it in the form of "fatty acids". Fatty acids come in different lengths: long, medium, and short. In SCAD, the affected person cannot break down the short length fatty acids. Thus, it is classified under a gro...
Short Rib-Polydactyly Syndrome I-IV
SRPS type 1-4, polydactyly with neonatal chondrodystroply type 1-4, Saldino-Noonan type [type1], Maj
Short rib-polydactyly syndrome describes a group of lethal skeletal disorders that are inherited in an autosomal recessive manner.
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Shwachman-Diamond Syndrome (SDS)
Shwachman Syndrome, Swachman-Bodian-Diamond Syndrome
Shwachman-Diamond Syndrome (SDS) is an inherited disorder that impairs pancreatic and bone marrow function and results in decreased height. SDS may also cause other effects including skeletal changes. Effects on the pancreas reduce intestinal nutrient absorption, but this malabsorption is largely reversible with treatment. Impairment of bone marrow (which produces all types of blood cells) most...
Sickle Cell Anemia
Sickle Cell Disease
Sickle cell anemia is an inherited blood disorder in which the oxygen-carrying substance of red blood cells (called hemoglobin) is different from the common form. In normal red blood cells oxygen is carried by hemoglobin A, and these cells are smooth and doughnut-shaped. In those with sickle cell anemia oxygen is carried by hemoglobin S and these cells become stiff, sticky, and sickle-shaped onc...
Sirenomelia Syndrome
Mermaid Syndrome, Sirenomelus
Sirenomelia syndrome describes a congenital birth defect in which infants are born with a single lower extremity or with their legs fused together, giving the appearance of a mermaid. It frequently includes malformations of the urogenital and gastrointestinal tracts, and is associated with a wide range of other anomalies across many organ systems.
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