Achalasia is a rare disease of the muscle of the esophagus (swallowing tube). The term achalasia means "failure to relax" and refers to the inability of the lower esophageal sphincter (a ring of muscle situated between the lower esophagus and the ...

Malignant large bowel cystadenocarcinoma is quite treatable and frequently cured when it only affects the digestive system. 1. One-stage resection anastomosis, which can be subtotal colectomy or segmental colectomy, w...

Aicardi syndrome is an extremely rare genetic disorder. Almost all people with Aicardi syndrome are females. Individuals with Aicardi syndrome have agenesis of the corpus callosum, chorioretinal lacunae and seizures. Agenesis of the corpus callosu...

Allergic granulomatosis also known as Eosinophilic granulomatosis with polyangiitis (EGPA, formerly Churg-Strauss Syndro...

Allergic granulomatosis and angiitis or Eosinophilic granulomatosis with polyangiitis is a condition that affects the sm...

Jervell and Lange-Nielsen syndrome (JLNS) is a rare inherited disorder characterized by deafness present at birth (congenital) occurring in association with abnormalities affecting the electrical system of the heart. The severity of cardiac sympto...

Balantidiasis is a rare intestinal infection caused by the bacterium, Balantidium coli, a single celled parasite (ciliate protozoan) that frequently infects pigs but on occasion (rarely) infects humans. Some infected people may have no symptoms or...

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...

Batten Turner Type Congenital Myopathy is an extremely rare, inherited muscle disease (myopathy) and is characterized by the lack of muscle tone or floppiness at birth (congenital hypotonia). The symptoms of Batten Turner Type Congenital Myopathy ...

Batten Turner Type Congenital Myopathy is an extremely rare, inherited muscle disease (myopathy) and is characterized by the lack of muscle tone or floppiness at birth (congenital hypotonia). The symptoms of Batten Turner Type Congenital Myopathy ...

Blue rubber bleb nevus syndrome (BRBNS) is a rare blood vessel (vascular) disorder that affects the skin and internal organs of the body. Multiple distinctive skin lesions are usually characteristic of this disorder and are often present at birth ...

Blue rubber bleb nevus syndrome (BRBNS) is a rare blood vessel (vascular) disorder that affects the skin and internal organs of the body. Multiple distinctive skin lesions are usually characteristic of this disorder and are often present at birth ...

Colon cancer Open pop-up dialog box Close Colon cancer Colon cancer Colon cancer can occur in any part of the colon. An examination of your entire colon using a long, flexible tube equipped with a camera (colonoscopy) is one way to detect ...

Colon cancer can occur in any part of the colon. An examination of your entire colon using a long, flexible tube equipped with a camera (colonoscopy) is one way to detect colon cancer and polyps. Colon cancer is a type of cancer that begin...

Chromosome 22q11.2 deletion syndrome is associated with a range of problems including: congenital heart disease, palate abnormalities, immune system dysfunction including autoimmune disease, low calcium (hypocalcemia) and other endocrine abnormali...

Common Variable Immune Deficiency (CVID) is a type of primary immunodeficiency, which is defined as an immune system dysfunction typically caused by a mutation in a gene or genes. The World Health Organization (WHO) recognizes more than 150 primar...

Fabry disease is caused by the lack of or faulty enzyme needed to metabolize lipids, fat-like substances that include oils, waxes, and fatty acids. The enzyme is known as ceramide trihexosidase, also called alpha-galactosidase-A. A mutation in the...

Schindler disease is a rare inherited metabolic disorder characterized by the deficient activity of the lysosomal enzyme alpha-N-acetylgalactosaminidase (alpha-NAGA or alpha-galactosidase B). The enzyme defect leads to the abnormal accumulation of...

Mallory-Weiss syndrome refers to a tear or laceration of the mucous membrane, most commonly at the point where the esophagus and the stomach meet (gastroesophageal junction). Such a tear may result in severe bleeding from the gastrointestinal trac...

Giardiasis is a common intestinal infection caused by a microscopic parasite called Giardia lamblia. It is typically contracted by ingesting contaminated food or water, and can cause symptoms such as diarrhea, abdominal cramps, bloating, and weigh...

Fabry disease is a rare genetic disorder of fat (lipid) metabolism characterized by a deficiency of the enzyme alpha-galactosidase A (previously known as ceramide trihexosidase). The disorder belongs to a group of diseases known as lysosomal stora...

Hartnup disease is a rare metabolic disorder inherited as an autosomal recessive trait. It involves an inborn error of amino acid metabolism as well as niacin deficiency. Factors that may precipitate acute attacks of this disorder may include poor...

Tropical Sprue is a rare digestive disease in which the small intestine's ability to absorb nutrients is impaired (malabsorption). Consequently, nutritional deficiencies and abnormalities in the mucous lining of the small intestine may be present....

Hirschsprung* disease (HD) is a disease of the large intestine that causes severe constipation or intestinal obstruction. Constipation means stool moves through the intestines slower than usual. Bowel movements occur less often than normal and sto...

IBS triggers and prevention facts Foods and drinks that dehydrate the body can trigger constipation in IBS patients. Fatty foods can trigger diarrhea in people with IBS; others may also do so but specific food triggers of di...

Dyspepsia (indigestion) facts Dyspepsia is a functional disease in which the gastrointestinal organs, primarily the stomach and first part of the small intestine, function abnormally. It is a chronic disease in which the symptoms fl...

What is the definition of irritable bowel syndrome (IBS)? Irritable bowel syndrome (IBS) is a gastrointestinal disorder characterized by the presence of a cluster of symptoms and signs in adult or children that include cramping, abdominal ...

What is irritable bowel syndrome (IBS)? Irritable bowel syndrome is a functional gastrointestinal (GI) disorder, meaning it is a problem caused by changes in how the GI tract works. Children with a functional GI disorder have frequent symp...

Lactose intolerance is the inability to digest and absorb lactose (the sugar in milk) that results in gastrointestinal symptoms when milk or food products containing milk are consumed.        ...

Degos disease is an extremely rare disorder in which small and medium sized arteries become blocked (occlusive arteriopathy), restricting the flow of blood to affected areas. Degos disease usually causes characteristic skin lesions that may last f...

Pseudomyxoma peritonei is a rare malignant growth characterized by the progressive accumulation of mucus-secreting (mucinous) tumor cells within the abdomen and pelvis. The disorder develops after a small growth (polyp) located within the appendix...

Pseudomyxoma peritonei is a rare malignant growth characterized by the progressive accumulation of mucus-secreting (mucinous) tumor cells within the abdomen and pelvis. The disorder develops after a small growth (polyp) located within the appendix...

What is a peptic ulcer? A peptic ulcer is a break in the inner lining of the esophagus, stomach, or duodenum. A peptic ulcer of the stomach is called a gastric ulcer; of the duodenum, a duodenal ulcer; and of the esophagus, an esophageal u...

The liver serves many purposes within the body from making carbohydrates, proteins and fats to synthesizing bile to help digest found. Because of this, the liver requires a significant blood supply. As opposed to other organs in the body, the majo...

Rothmund-Thomson syndrome (RTS) is a rare genetic disorder that can affect many parts of the body. The disorder is characterized by distinctive abnormalities of the skin, sparse hair, eyelashes and/or eyebrows, small stature, skeletal and dental a...

Sick building syndrome is believed by some to be an illness caused by unknown agents in buildings. Sick building syndrome is a controversial subject because many experts do not think it is a true syndrome. Sick building sy...

Pseudoxanthoma elasticum, PXE, is an inherited disorder caused y mutations in the ABCC6 transporter gene that affects connective tissue in some parts of the body. Elastic tissue in the body becomes mineralized; that is, calcium and other minerals ...

Gilbert syndrome is a mild genetic liver disorder in which the body cannot properly process bilirubin, a yellowish waste product that is formed when old or worn out red blood cells are broken down (hemolysis). Individuals with Gilbert syndrome hav...