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Thursday, Nov 20, 2008 | 10:15 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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Farber Disease
Ceramidase deficiency or Farber lipogranulomatosis
Farber disease is a genetic, autosomal recessive disorder. Patients with this disease lack an enzyme called ceramidase which breaks down fats. Thus, the unbroken fats build up in different parts of the body, causing abnormalities in the voice, skin, joints, liver and brain.
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Fetal Alcohol Syndrome (FAS)
FAS is a group of birth defects induced by exposure to alcohol. It is the most common preventable cause of birth defects in the United States. The most serious consequence is mental retardation which is caused by impaired brain development. During the first trimester of pregnancy, alcohol exposure results in fetal anomalies. Exposure to alcohol during the last two trimesters is associated with...
FG syndrome
FG syndrome is a rare genetic disorder characterized by a constellation of features including abnormalities of the anus, constipation, large head size, diminished muscle tone (hypotonia) and mental retardation. FG syndrome was first described in 1974 by Drs. Opitz and Kaveggia who named the disorder using initials of patients’ last names.
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Fibroma
Fibroma is a benign (noncancerous) tumor of connective tissue that can arise in many places in the body. Fibromas are composed mainly or wholly of fibrous or fully developed connective tissue, the tissue that makes up ligaments, tendons and fasciae (tissue that covers muscles and connects internal organs). Fibromas have a firm consistency, are irregular in shape and grow slowly. Fibroma is a ...
Fibromatosis
Desmoplastic Fibroma
Fibromatosis, also called desmoplastic fibroma, is a general term for a group of benign (noncancerous) tumors in the fibrous connective tissues of the body. These soft tissue tumors can affect the fasciae (tissue around muscles and organs), ligaments, tendons, sheaths around nerves, and tissues making up blood and lymph vessels. Although benign, these tumors, called fibromatoses, can be a proble...
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