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Wednesday, Dec 03, 2008 | 12:54 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
Kearns-Sayre Syndrome
Kearns-Sayre Syndrome is a rare genetic disorder that is characterized by gradual deterioration of the retina of the eye, pigment or color changes of the retina and the progressive paralysis of the muscles that control eye movement (progressive external ophthalmoplegia). The first signs and symptoms of this disorder usually appear before 20 years of age.
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Kikuchi Syndrome
histiocytic necrotizing lymphadenitis, Kikuchi-Fujimoto Disease
The Kikuchi syndrome is a rare disorder that results in the inflammation and swelling of lymph nodes. Glands in the neck are most commonly affected and children most commonly have symptoms that resolve on their own.
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Klinefelter Syndrome
47, XXY; 48, XXXY; 48, XXYY; 49, XXXXY
Klinefelter syndrome is a genetic disorder that was first described in 1942 and is caused by an abnormality of the number of sex chromosomes in males. Boys usually have 46 chromosomes (or 23 pairs), which includes the sex chromosomes X and Y. In Klinefelter syndrome, there is an extra X chromosome for a total of 47 chromosomes. This genetic makeup or “genotype” is represented in the medical litera...
Klippel-Feil Syndrome
Klippel-Feil Syndrome is a rare disorder that is present at birth and characterized by bony abnormalities in the spine. It is distinguished by the fusion of any 2 cervical vertebrae (spinal bones in the neck). Klippel-Feil Syndrome may be associated with the kidneys, ribs, heart, lungs, spinal abnormalities such as scoliosis (abnormal curvature of the spine) and spina bifida (a birth defect where ...
Klippel-Trenaunay-Weber Syndrome (KTWS)
Klippel-Trenaunay-Weber Syndrome (KTWS) is a rare congenital malformation that affects the blood vessels. Children born with this syndrome have the following three findings: 1) birthmarks called “port wine stains,” which are benign nests of tiny blood vessels on or underneath the skin, 2) swollen veins and 3) overgrowth of the bones or tissues of one limb, usually a leg.
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