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Tyrosinemia Type I is a rare genetic disorder that occurs in the body’s metabolism (the chemical and physical processes that occur in tissues) when there is a deficiency in a specific enzyme named fumarylacetoacetate hydrolase. This enzyme is needed to completely break down the amino acid called tyrosine, which is a building block of protein. When tyrosine cannot be broken down, toxic byproducts...

Hermansky-Pudlak syndrome is a rare, inherited genetic disorder that is comprised of three conditions: albinism (loss of skin and eye pigment), excessive bleeding, and inflammation of multiple organs from the accumulation of toxic metabolites. ...

Heterotaxy syndrome is a disorder that results in certain organs forming on the opposite side of the body. For example, instead of the heart normally forming on the left side of the chest, it will be located on the right side. Heterotaxy has been known to affect the development of the heart, liver, lungs, intestines, and spleen. Babies with heterotaxy syndrome are usually first identified becaus...

Hidrotic Ectodermal Dysplasia (HED) is a rare genetic condition that is present in children at birth, but symptoms may not be recognized during the newborn period (first 28 days of life). The most common symptom is thick, slow growing and brittle fingernails and toenails which is the only symptom in one third of the families affected by this disease. Another common symptom is thin and sparse scal...

Hirschsprung Disease is a rare disease of the gastrointestinal system that affects children from birth. Hirschsprung disease occurs when a group of nerve cells, named a ganglion, do not form properly in the wall of the intestine during fetal development. Ganglion cells are nerve centers that cause the intestinal muscles to move stool through the large intestine (colon). Without normally function...

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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