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Freeman-Sheldon syndrome (FSS) is a rare, inherited, genetic disorder characterized by the combination of skeletal malformations and unique facial features. First described in 1938, children with FSS have skeletal malformations in the hands, feet, and skull. ...

Friedreich's Ataxia is a rare, inherited, neurodegenerative genetic disease in which there is a slow and progressive loss of coordination and the ability to walk. It is characterized by poor balance, uncoordinated movements, difficulty with speech, loss of reflexes, and problems with the sensory system. This disease can also affect the heart, the spine and cause diabetes. ...

Fructose 1,6-Diphosphatase (FDPase) deficiency is a rare and inherited condition where the body is not able to break down fructose in the diet. FDPase is characterized by hypoglycemia, or low blood sugar, during periods of fasting. Fructose is the sugar found in fruits and is made up of glucose, a simple sugar. The body normally uses glucose as its main source of energy. During fasting, blood gluc...

Fryns syndrome is a rare disorder in which infants are born with a variety of problems, particularly in breathing muscles, and in changes in the face. Fryns syndrome frequently causes a defect in the diaphragm muscle (which is important for breathing), lungs that are underdeveloped, characteristic facial features, changes in the fingers and toes, and problems with internal organs such as the heart...

Fucosidosis is an inherited disease that results when an enzyme that breaks down fucose, a sugar molecule, is missing or not working correctly. When this enzyme is missing, fucose builds up in a part of cells called lysosomes. Lysosomes are small sacs in cells whose job it is to break down these sugars. Because these sugars accumulate in lysosomes, fucosidosis is classified as a lysosomal storag...

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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