Baller-Gerold Syndrome is a rare genetic disorder that affects the development of bones and other tissues. It is caused by a mutation in the RECQL4 gene. Symptoms of the disorder include skeletal abnormalities, facial dysmorphism, intellectual dis...

Balo concentric sclerosis is a rare neurological disorder characterized by alternating layers of demyelination and remyelination in the central nervous system. It is a type of multiple sclerosis (MS) and is considered to be a variant of MS. Sympto...

Balo Disease is a rare and progressive variant of multiple sclerosis. It usually first appears in adulthood, but childhood cases have also been reported. While multiple sclerosis typically is a disease that waxes and wanes, Balo Disease is differe...

Bamforth-Lazarus syndrome is a rare genetic disorder characterized by a combination of physical and mental disabilities. It is caused by a mutation in the gene that codes for the enzyme dihydropyrimidine dehydrogenase (DPD). Symptoms of the disord...

Bangstad syndrome is a rare genetic disorder characterized by a combination of physical and mental disabilities. It is caused by a mutation in the gene that codes for the enzyme dihydropyrimidine dehydrogenase (DPD). Symptoms of Bangstad syndrome ...

Banki syndrome is a rare disorder characterized by the presence of multiple cysts in the pancreas. It is also known as pancreatic cystic hamartoma or pancreatic cystic neoplasm. Symptoms of Banki syndrome may include abdominal pain, nausea, vomiti...

Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare genetic disorder characterized by macrocephaly (an abnormally large head), lipomas (benign fatty tumors), and intestinal hamartomatous polyps. It is caused by a mutation in the PTEN gene, which is...

Bantia's Syndrome is a rare genetic disorder characterized by a combination of physical and mental disabilities. It is caused by a mutation in the gene that codes for the protein dystrophin. Symptoms of Bantia's Syndrome include intellectual disab...

BAP1-related tumor predisposition syndrome is an inherited disorder caused by mutations in the BAP1 gene. People with this syndrome have an increased risk of developing certain types of cancer, including mesothelioma, melanoma, and uveal melanoma....

Baraitser-Winter cerebrofrontofacial syndrome (BWS) is a rare genetic disorder characterized by distinctive facial features, intellectual disability, and a variety of other physical and neurological abnormalities. It is caused by a mutation in the...

Barakat Syndrome is a rare genetic disorder that affects the development of the brain, eyes, and other organs. It is caused by a mutation in the gene that codes for the enzyme dihydropyrimidine dehydrogenase (DPD). Symptoms of Barakat Syndrome inc...

Bardet-Biedl Syndrome (BBS) is a rare genetic disorder that affects multiple systems of the body. It is characterized by the progressive loss of vision, obesity, extra fingers or toes, kidney abnormalities, and learning disabilities. It is caused ...

A lower GI series, also known as a barium enema, barium enema procedure, barium enema X-ray or double-contrast barium enema, is an X-ray test in which a white liquid, called barium, is infused through a catheter (tube) inserted through the anus an...

Baroreflex failure is a condition in which the baroreflex, a reflex that helps regulate blood pressure, does not work properly. This can lead to a sudden and severe drop in blood pressure, which can cause dizziness, fainting, and even death. Treat...

Barth Syndrome is a rare genetic disorder that affects the heart, muscles, and immune system. It is caused by a mutation in the gene that codes for the enzyme tafazzin. Symptoms of Barth Syndrome include cardiomyopathy, skeletal muscle weakness, g...

Bartonellosis is a bacterial infection caused by the bacteria Bartonella. It is also known as Carrion's disease or bartonellosis. Symptoms of bartonellosis can include fever, headache, fatigue, and swollen lymph nodes. In some cases, it can also c...

Bartsocas-Papas syndrome is a rare genetic disorder characterized by craniofacial abnormalities, skeletal malformations, and intellectual disability. It is caused by a mutation in the PAPB gene. Symptoms may include a distinctive facial appearance...