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Wednesday, Dec 03, 2008 | 12:37 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
Paroxysmal Nocturnal Hemoglobinuria (PNH)
Marchiafava-Micheli Syndrome
Paroxysmal nocturnal hemoglobinuria (PNH) is a general term used to describe a rare disorder that can affect many different kinds of blood cells. People with PNH will usually have three major characteristics: destruction of their red blood cells, bone marrow that is unable to make the correct cells (aplastic anemia) and an increased risk of having blood clots in their blood vessels (thrombotic eve...
Pearson's Syndrome
Pearson Marrow-Pancreas Syndrome
Pearson’s Syndrome is a rare disorder that affects the cells of many different organ systems. Children with this syndrome have anemia, trouble with their ability to absorb nutrients, and trouble with their ability to regulate electrolytes in their bodies. They may also have variable amounts of liver, kidney, and endocrine (hormonal) failure.
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Pelizaeus-Merzbacher Disease
Spastic paraplegia type 2, sudanophilic leukodystrophy
Pelizaeus-Merzbacher disease (PMD) is a rare, inherited, neurological disorder that affects children early in life and produces a variety of developmental problems. PMD is distinguished from other similar neurologic disorders by the severe motor delay (most children do not walk) and the presence of abnormal eye movements termed nystagmus.
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Pena-Shokeir Syndrome, Type I
Pena-Shokeir phenotype, fetal akinesia deformation sequence
Pena-Shokeir syndrome Type I is a rare disease. This syndrome causes contractures of the joints (arthrogryposis), growth problems, lungs that are underdeveloped, and abnormalities of facial features. Pena-Shokeir syndrome is often categorized as a type of “Arthrogryposis Multiplex Congenita.” This is a group of similar syndromes in which individuals are born with multiple joint contractures. Pen...
Pendred Syndrome
Goiter-deafness syndrome, Thyroid hormone organification defect IIb
Pendred Syndrome is a rare, inherited, genetic disorder characterized by hearing loss from birth and malformations of the bony parts of the ears. In addition, the thyroid gland in the neck (near the Adam’s apple) is often enlarged.
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