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Wednesday, Dec 03, 2008 | 12:05 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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Guillain-Barre Syndrome
Guillain-Barre Syndrome (GBS) is a disorder caused by inflammation and damage to the peripheral nervous system. The peripheral nervous system is made up of nerves that are found outside of the brain and spinal cord. These nerves convey sensory information (pain and temperature) from the body to the brain and motor (movement) signals from the brain to the body. Damage to the peripheral nervous sys...
Hajdu-Cheney
acro-osteolysis syndrome, arthro-dento-osteodysplasia, cranio-skeletal dysplasia with acro-osteolysi
Hajdu-Cheney Syndrome (HCS) is a rare disorder characterized by acro-osteolysis of various bones in the body. Acro-osteolysis means gradual breakdown of bone, starting with the extremities and peripheral bones, like fingers and toes. This breakdown of bones can then lead to other complications, including headaches, infections, fractures, short stature, and other neurologic difficulties.
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Hallermann Streiff Syndrome
Oculomandibulofacial Syndrome, Francois Dyscephalic Syndrome
Hallermann Strieff syndrome (HSS) is a rare, genetic disorder that is characterized by dwarfism, unique facial appearance, dental abnormalities, eye abnormalities, and sparse bodily hair.
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Hartnup Disease
Hartnup disease is a rare, inherited condition where the body cannot absorb certain amino acids, especially tryptophan. This defect is in the small intestine and in the kidneys. Amino acids are the building blocks of proteins. The body needs tryptophan in order to make niacin (vitamin B3). Hartnup disease was first described in 1956 in the Hartnup family of London.
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Hawkinsinuria
4-hydroxyphenylpyruvate hydroxylase deficiency,
4-hydroxyphenylpyruvate dioxygenase deficiency
Hawkinsinuria is an autosomal dominant genetic disorder medically classified as a tyrosinemia due to an inborn error of amino acid metabolism. Children with this disease have a
mutation in one of the enzymes responsible for breaking down tyrosine, an amino acid, in the body. The mutation decreases the function of the enzyme, called 4-hydroxyphenylpyruvate hydroxylase. This results in the accumul...
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