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Wednesday, Dec 03, 2008 | 01:36 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
Kohlmeier-Degos Syndrome
Malignant atrophic papulosis, Progressive arterial occlusive disease, Benign cutaneous Degos syndrom
The Kohlmeier-Degos syndrome is a rare disorder of small and medium sized blood vessels throughout the body causing them to be blocked. There are two stages of the disease with skin lesions appearing first for several weeks to years followed by lesions in the small intestines.
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Kostmann's Agranulocytosis
Infantile Genetic Agranulocytosis or Kostmann's Neutropenia
Kostmann’s agranulocytosis is a condition that causes low levels of white blood cells at birth. The low level of white blood cells is due mainly to the extremely low levels of a specific type of white blood cell called neutrophils. Neutrophils are part of a group of white blood cells that are one of the body’s first line of defense against many bacterial infections. Because neutrophils play a r...
Krabbe Disease
Globoid Cell Leukodystrophy
Krabbe Disease (KD) is a rare degenerative disorder of the nervous system. Krabbe disease affects the myelin sheath, which is a fatty covering that acts as an insulator on nerve fibers. Myelin is essential for the transmission of signals in the nervous system. In KD there is severe loss of the myelin sheath and presence of globoid bodies, which are large, irregular cells found in and around blo...
Krause Kivlin Syndrome
Peters plus syndrome, Peters anomaly with short limb dwarfism
Krause Kivlin syndrome is a hereditary condition that describes a group of symptoms that includes abnormal formation of the front part of the eye which causes vision problems, characteristic facial appearance and short stature. It is believed that this syndrome is caused by an error in development that takes place very early on in pregnancy.
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Kugelberg-Welander Spinal Muscular Atrophy
Spinal Muscular Atrophy III
Kugelberg-Welander spinal muscular atrophy (SMA) is a rare inherited neurological disorder that causes a progressive destruction of parts of the spinal cord. When these cells are destroyed, the individual may experience muscle weakness, abnormally low muscle tone, and accelerating paralysis. Several forms of spinal muscular atrophy exist, which are categorized as types I-IV. Type I is seen the ear...