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Wednesday, Dec 03, 2008 | 01:25 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
LEOPARD syndrome
Multiple Lentigines syndrome, Cardiocutaneous syndrome,
Progressive Cardiomyopathic lentiginosis
Leopard syndrome is a rare genetic disorder that can affect many parts of the body. It can cause freckle-like dark spots on the skin, heart problems, short stature, hearing defects, and abnormalities of the bones and reproductive organs. The freckle-like spots are called lentigines and it is these spots that led to the name of this disorder.
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Lesch-Nyhan Syndrome
Hypoxanthine-Guanine Phosphoribosyl Transferase Deficiency
Lesch-Nyhan syndrome (LNS) is a hereditary condition in which there is overproduction of a substance called uric acid in the body, as well as neurologic and behavior problems. Enzymes are involved in getting rid of uric acid in the blood. One of these enzymes is called "hypoxanthine-guanine phosphoribosyl transferase (HPRT)". When there is a deficiency of HPRT, uric acid accumulates a...
Lichen Planus (LP)
Lichen Planus (LP) is an inflammatory condition that causes characteristic bumps (papules) on the skin, mouth, or genitals. It can also affect the scalp and nails. It is thought that the body’s own immune system causes LP. LP usually resolves over months or sometimes years, but recurs in about 20% of patients. Medications can help to alleviate symptoms. Additionally, genital and mouth lesions...
Lissencephaly
Lissencephaly is an abnormality of brain formation which causes the surface of the brain to be smooth rather than convoluted. Usually the surface is formed by a complex series of ridges (called gyri or convolutions) and valleys (sulci). Children with lissencephaly have absent or partially formed convolutions.
During early pregnancy, the fetus’s nerve cells in the brain begin to divide in the ...
Long-Chain Acyl-CoA Dehydrogenase Deficiency
Long-chain acyl-CoA dehydrogenase (LCAD) deficiency is a rare, inherited disorder caused by a missing or poorly functioning enzyme named LCAD. The normal job of LCAD is to break down fat for energy when sugar is not available. When this enzyme does not work correctly products from the breakdown of fat build up in the body and causes problems. This results in recurrent episodes of low blood sugar (...