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This syndrome has several names, the most commonly used is the name of Dr. Barakat, the first physician to describe it in 1977. Other names relate to the clinical symptoms present in affected persons. Barakat syndrome is a rare disorder causing low parathyroid hormone (hypoparathyroidism), deafness and kidney disease. The deafness found in children with this disorder is caused by abnormal inner ea...

Bardet-Biedl syndrome (BBS) is a rare genetic disorder characterized by mental disabilities, retinal dystrophy (visual disturbances, usually appearing in individuals when they are 10 to 20 years of age), malformed extremities, functional and structural kidney problems, small gonads (in males), and obesity. BBS has been known since the early 1920s and was formerly grouped with Laurence-Moon syndr...

Bare lymphocyte syndrome is a rare inherited immune disease that is one form of a more general disorder known as severe combined immunodeficiency (SCID). SCID is known to cause severe T and B-cell dysfunction where the lymphocyte cell number is either normal or slightly reduced. T and B cells are immune system cells that play a vital role in defending the body against everyday attacks by viruses ...

In Bartter syndrome, there is a defect in the way the kidneys work. Usually the kidneys filter the blood and make sure that the right levels of electrolytes are present in the blood, which is important for the normal functioning of the body. The electrolytes in the blood include sodium, potassium, and chloride. Since the kidneys don’t work correctly in this syndrome, it leads to alkaline blood tha...

Basilar invagination is a disorder in which the base of the skull is not formed correctly. As a result, the upper tip of the spine tends to protrude into the area where the spinal cord leaves the brain, and can cause pressure in this area. Basilar invagination and basilar impression are not exactly the same, but the signs, symptoms and treatment are almost identical. ...

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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