4D syndrome is a term used to describe a manifestation of syndromic glucagonomas, a type of pancreatic endocrine tumor.
D: dermatitis 2
necrolytic migratory erythema - a widespread rash, tending to involve perioral and perigenital regions
oral rashes (angular stomatitis, cheilitis)
tend to r...
Abdominal migraine (AM) is a syndrome which presents as recurrent episodes of severe abdominal pain, coupled with vasomotor symptoms, nausea and emesis. Historically it has tended to be a pediatric diagnosis, but is now increasingly seen in adults. It is one of the functional gastrointestinal di...
Allgrove syndrome (also known as triple A syndrome) is an autosomal recessive condition that consists of three main findings:
Alpers syndrome, also known as Alpers-Huttenlocher syndrome or progressive cerebral poliodystrophy, is a rare childhood neurodegenerative POLG-related disorder. Along with Leigh syndrome, it is one of the commonest childhood mitochondrial disorders 1.
Alpers syndrome is incredibl...
Antiphospholipid syndrome is a systemic autoimmune disorder. It is usually defined as the clinical complex of vascular occlusion and ischemic events occurring in patients who have circulating antiphospholipid antibodies.
Antiphospholipid syndrome is characterized by venou...
Bannayan–Riley–Ruvalcaba syndrome (BRRS or BRR syndrome) is a very rare autosomal dominant hamartomatous disorder caused by a mutation in the PTEN gene. It is considered in the family of hamartomatous polyposis syndrome.
There are no formal diagnostic criteria for this disease, but characterist...
Bouveret syndrome refers to a gastric outlet obstruction secondary to impaction of a gallstone in the pylorus or proximal duodenum. Thus, it can be considered a very proximal form of gallstone ileus.
Bouveret syndrome occurs most commonly in elderly women. The presenting...
Buried bumper syndrome (BBS) is a rare but important complication in patients with a percutaneous gastrostomy tube, occurring by migration of the internal bumper along its track. The tube may get lodged anywhere between the gastric wall and the skin and lead to life-threatening complications inc...
Carcinoid syndrome refers to a spectrum of symptoms that result from excessive hormone (mainly serotonin) secretion.
Occurs equally between the sexes, most commonly in the 40-70 year age group 3.
Diarrhea is the most common and earliest symptom but others ...
Carney-Stratakis syndrome is a rare autosomal dominant condition comprising of familial paraganglioma and gastric stromal sarcoma.
It is considered to be distinct from, but perhaps related to, the Carney triad 1. Neither should be confused with the unrelated Carney complex.
Carney triad is a rare syndrome defined by the coexistence of three tumors:
extra-adrenal paraganglioma (e.g. spinal paraganglioma)
initially, only functioning extra-adrenal paragangliomas were included, but subsequent work includes non-functioning extra-adrenal paragangliomas 1
Cavitary mesenteric lymph node syndrome is seen in association with celiac disease and is characterized by the triad of:
low-attenuation lymphadenopathy that sometimes contains fat-fluid levels
CEC syndrome refers to the combination of celiac disease, epilepsy and bilateral occipital calcifications. This is also known as Gobbi syndrome. Patients with cerebral calcifications and celiac disease without epilepsy are considered as having an incomplete form of CEC syndrome 1.
Chilaiditi syndrome is the anterior interposition of the colon to the liver reaching the under-surface of the right hemidiaphragm with associated upper abdominal pain; it is one of the causes of pseudopneumoperitoneum.
Colonic gas in this position may be misinterpreted as true pneumoperitoneum ...
Celiac artery compression syndrome, also known as median arcuate ligament syndrome or Dunbar syndrome, is a rare condition characterized by upper abdominal pain in the setting of compression of the celiac trunk by the diaphragmatic crurae.
Although well-recognized as a clinical entity, there re...
Cowden syndrome, also known as multiple hamartoma syndrome, is characterized by multiple hamartomas throughout the body and increased risk of several cancers.
Type 2 segmental Cowden syndrome is the association of Cowden syndrome with a Cowden nevus when it is considered a type of ...
Cronkhite–Canada syndrome is a type of non-neoplastic, non-hereditary hamartomatous polyposis syndrome characterized by rash, alopecia, and watery diarrhea.
There is a recognized male predilection. Patients typically are middle age (50-60 years of age) 1.
Down syndrome (or trisomy 21) is the most common trisomy and also the commonest chromosomal disorder. It is a major cause of intellectual disability, and also has numerous multi-system manifestations.
According to the world health organization (WHO), the approximate worldwide inci...
Ehlers-Danlos syndrome comprises a heterogeneous group of collagen disorders (hereditary connective tissue disease).
There is a recognized male predominance.
Clinically manifests by skin hyperelasticity and fragility, joint hypermobility and blood vessel fr...
Encapsulating peritoneal sclerosis is a rare benign cause of acute or subacute small bowel obstruction. It is characterized by total or partial encasement of the small bowel within a thick fibrocollagenous membrane.
The condition was originally termed abdominal cocoon. The conditio...
Familial adenomatous polyposis syndrome (FAPS) is characterized by the presence of hundreds of adenomatous polyps in the colon. It is the most common of the polyposis syndromes.
Familial polyposis coli, attenuated familial adenomatous polyposis and Gardner syndrome are all variants...
Familial atypical multiple mole melanoma (FAMMM) syndrome is an autosomal dominant genodermatosis characterized by multiple melanocytic nevi (often more than 50) and a family history of melanoma.
It is associated with mutations in the CDKN2A gene and shows reduced penetranc...
The functional gastrointestinal disorders (FGIDs) are a set of conditions characterized by their chronic GI manifestations, in the absence of structural abnormality of the gut. These conditions are common and may be disabling in nature. The understanding of their pathogenesis is incomplete, comp...
Glycogen storage disease type I (GSD-I), also known as von Gierke disease, is a type of glycogen storage disease where there is excess deposition of glycogen primarily in the liver, but also in the kidney and small bowel.
It occurs approximately one in every 100,000 live births 2,...
Gullo syndrome, also known as benign pancreatic hyperenzymaemia, is characterized by the abnormal elevation of the serum levels of most or all of the pancreatic enzymes without any evidence of underlying pancreatic pathology. All other laboratory assays and imaging studies are unremarkable.
Hereditary breast and ovarian cancer (HBOC) syndrome is caused by a mutation to either BRCA1 or BRCA2 genes. These patients have an increased risk of breast cancer, ovarian cancer, pancreatic cancer and prostate cancer. However, these gene mutations are not the only cause of hereditary breast ca...
Hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome, is a rare inherited disorder characterized by abnormal blood vessel formation in the skin, mucous membranes, and organs including the lungs, liver, and central nervous system.
Hereditary non-polyposis colorectal cancer (HNPCC), also known as Lynch syndrome, is an inherited condition which predisposes to a host of malignancies, including colorectal carcinoma. It is considered the most frequent form of hereditary colorectal cancer. Diagnosis requires evaluation using cl...
Heyde syndrome is an association between aortic valve stenosis and gastrointestinal hemorrhage.
The etiology of the gastrointestinal bleeding in this setting is uncertain, but it is thought to be related to intestinal angiodysplasia. The strength of this association independent of age-related d...
Irritable bowel syndrome (IBS) is the commonest of the functional gastrointestinal disorders (FGIDs). Its key presenting features are recurrent abdominal pain and change in bowel habit (diarrhea and/or constipation), which may be severe, such that for an individual, there may be a marked negativ...
Juvenile polyposis syndrome, also referred as familial juvenile polyposis, is one of the polyposis syndromes and consists of hundreds of juvenile polyps.
Presentation in the second decade is most common 2.
Rectal bleeding, bowel obstruction and intussuscept...
Lane-Hamilton syndrome (LHS) refers to the rare concurrent association of idiopathic pulmonary hemosiderosis and celiac disease 1.
It is typically seen in children under the age of 15 but can occasionally be seen in adults.
History and etymology
It was originally described by D ...
Lemmel syndrome is defined as an obstructive jaundice caused by a periampullary duodenal diverticulum compressing the intrapancreatic common bile duct with resultant bile duct dilatation.
Patients may present with recurrent episodes of jaundice, pancreatitis and/or cholan...
Levator ani syndrome (LAS) is a musculoskeletal pain syndrome involving the pelvic floor, thought to be caused by spasm or scarring of the levator ani muscles.
Levator ani syndrome is characterized by recurrent pain, pressure or discomfort in the region of the rectum, sac...
Li-Fraumeni syndrome is a hereditary cancer syndrome due to mutations in the tumor suppressor gene TP53. Approximately half of affected individuals are thought to develop invasive cancer by 30 years of age 1.
Multiple endocrine neoplasia type I (MEN1), also known as Wermer syndrome, is an autosomal dominant genetic disease that results in proliferative lesions in multiple endocrine organs, particularly the pituitary gland, islet cells of the pancreas and parathyroid glands.
There are other multiple...
Niacin (vitamin B3) deficiency, also known as pellagra, is a multisystem disease which involves the skin, gastrointestinal tract and central nervous system.
It use to be widespread until the early twenty century, but after fortification of flour with niacin it was practically era...
Paraneoplastic syndromes occur secondary to the indirect effects of a malignancy and occur remotely to the primary malignancy. Symptoms are mediated by cytokines, hormones or immune cross-reactivity. These syndromes can cause a diverse range of symptoms and can affect multiple systems.
Peutz-Jeghers syndrome is one of the polyposis syndromes. It has an autosomal dominant inheritance and is characterized by:
multiple hamartomatous polyps, most commonly involving the small intestine (predominantly the ileum), but also colon and stomach; mouth and esophagus are spared
Plummer-Vinson syndrome, also known as the Paterson-Brown-Kelly syndrome, predisposes to hypopharyngeal squamous cell carcinoma and consists of four features:
esophageal webs or hypopharyngeal webs
The condition is more common in women.
Polysplenia syndrome, also known as left isomerism, is a type of heterotaxy syndrome where there are multiple spleens congenitally as part of left-sided isomerism.
Polysplenia is seen predominantly in female patients. It is usually diagnosed in childhood or adulthood, later than a...
PPP syndrome is the extremely rare association of pancreatitis, panniculitis, and polyarthritis.
Most commonly affects middle-aged male patients with a history of heavy alcohol use 1,2.
In the majority of cases, abdominal symptoms are mild or absent, makin...
Renal cysts and diabetes syndrome (RCAD), also known as maturity-onset diabetes of the young, type 5 (MODY5), refers to the combination of renal cortical cysts and diabetes mellitus in patients with mutations in the HNF1B gene. When renal cysts are associated with these mutations without disturb...
The seatbelt syndrome is the constellation of traumatic injuries associated with three-point seatbelts:
lumbar spine fracture
Segmental arterial mediolysis (SAM) is an increasingly recognized vascular disease of the middle-aged and elderly and a leading cause of spontanoeus intra-abdominal hemorrhage. It is characterized by fusiform aneurysms, stenoses, dissections and occlusions within splanchnic arterial branches. Im...
Serrated polyposis syndrome (SPS), also called hyperplastic polyposis syndrome, is one of numerous polyposis syndromes and is characterized by the presence of multiple serrated polyps or a mixture of serrated and hyperplastic polyps, with the exact number required for diagnosis dependent on loca...
Short gut syndrome also is known as short bowel syndrome, is a kind of malabsorption disorder due to functional loss or loss of a portion of the small or large intestine during congenital deficiency (necrotizing enterocolitis) or acquired conditions and It is classified as a rare disease by the ...
The Shwachman-Diamond syndrome (SDS) or Shwachman-Bodian-Diamond syndrome (SBDS) is a rare autosomal recessive disorder characterized by 1 :
exocrine pancreatic insufficiency
bone marrow hypoplasia (cyclic neutropenia)
Patients with Shwachman-...
Solitary rectal ulcer syndrome (SRUS) is a chronic, benign disorder characterized by the presence of an abnormality of the rectum in persons who have a long history of straining during defecation. It is a misnomer because only a third of patients have a solitary ulcer, and many have no ulcers at...
Spigelian-cryptorchidism syndrome is the association of Spigelian hernias and cryptorchidism in children.
It is reported that ~50% (range 28-75%) range of pediatric patients with Spigelian hernias will have ipsilateral cryptorchidism 1,2.
Along with Spigelian hernia and cryptorchi...
Superior mesenteric artery (SMA) syndrome, also known as Wilkie syndrome, is a rare acquired vascular compression disorder in which acute angulation of the superior mesenteric artery (SMA) results in compression of the third part of the duodenum, leading to obstruction.
It should not be confuse...
Turcot syndrome is one of the variations in polyposis syndromes. It is characterized by multiple colonic polyps and an increased risk of colon and primary brain cancers.
Turcot syndrome is a rare disease. Patients typically present in the second decade 3.
Von Hippel-Lindau (vHL) disease is characterized by the development of numerous benign and malignant tumors in different organs (at least 40 types 1) due to mutations in the VHL tumor suppressor gene on chromosome 3.
The disease is rare with an estimated prevalence of 1:35,000-50,...
Whipple triad is the clinical presentation of pancreatic insulinoma and consists of:
fasting hypoglycemia (<50 mg/dL)
symptoms of hypoglycemia
immediate relief of symptoms after the administration of IV glucose
History and etymology
The triad and also the Whipple procedure were both named a...
Zollinger-Ellison syndrome (ZES) is a clinical syndrome that occurs secondary to a gastrinoma.
Diagnosis of ZES is often delayed by 5-7 years after the onset of symptoms 2.
Gastrinomas are usually multiple and typically located in the duodenum (more common) ...
Zuelzer-Wilson syndrome, also known as total colonic aganglionosis, is a subset of Hirschsprung disease, in which the whole colon is aganglionic.
It is uncommon and accounts for 2-13% of cases of Hirschsprung disease 3,7. Compared with Hirschsprung disease which has a marked male ...