4D syndrome is a term given to syndromic glucagonomas, a type of pancreatic endocrine tumour.
D: dermatitis (necrolytic migratory erythema, often involving the groin)
D: deep vein thrombosis
Allgrove syndrome (also known as triple A syndrome) is an autosomal recessive condition that consists of three main findings:
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 percutaneous endoscopic gastrostomy (PEG) 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 co...
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.
Diarrhoea is the most common and earliest symptom but others...
The Carney triad (not to be confused with the related Carney Stratakis syndrome, or the unrelated Carney complex) is a rare syndrome defined by the coexistence of three tumours:
extra-adrenal paraganglioma (e.g. spinal paraganglioma)
initially, only functioning extra-adrenal paragangliomas wer...
Cavitary mesenteric lymph node syndrome is seen in association with coeliac disease and is characterised by the triad of:
low-attenuation lymphadenopathy that sometimes contains fat-fluid levels
CEC syndrome refers to the combination of coeliac disease, epilepsy and bilateral occipital calcifications. This is also known as Gobbi syndrome. Patients with cerebral calcifications and coeliac 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 ...
Coeliac artery compression syndrome is also known as coeliac axis syndrome, median arcuate ligament syndrome and Dunbar syndrome. It is characterised by upper abdominal angina secondary to compression of the coeliac trunk by the diaphragmatic crurae.
The median arcuate ligament is th...
Cowden syndrome, also known as multiple hamartoma syndrome, is characterised 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 naevus, when it is considered a type o...
Cronkhite–Canada syndrome is a type of non-hereditary hamartomatous polyposis syndrome characterised by rash, alopecia, and watery diarrhea.
There is a recognised male predilection. Patients typically are middle age, in their 60th 1.
Patients typically pres...
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 organisation (WHO), the approximate worldwide inci...
Ehlers-Danlos syndrome comprises a heterogeneous group of collagen disorders (hereditary connective tissue disease).
There is a recognised male predominance.
Clinically manifests by skin hyperelasticity and fragility, joint hypermobility and blood vessel fr...
Familial adenomatous polyposis syndrome (FAPS) is characterised 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...
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 1.
It occurs approximately one in every 100,000 live births ...
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 haemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome, is a rare inherited disorder characterised 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 haemorrhage.
The aetiology 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...
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 haemosiderosis and coeliac 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 ...
Lemmel syndrome is defined as an obstructive jaundice caused by a periampullary duodenal diverticulum (of the second part of the duodenum) compressing the intrapancreatic part of the common bile duct with resultant upstream dilatation of the extra- and intrahepatic bile ducts.
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 characterised by:
multiple hamartomatous polyps, most commonly involving the small intestine (predominantly the ileum), but also colon and stomach; mouth and oesophagus are spared
Plummer-Vinson syndrome, also known as the Paterson-Brown-Kelly syndrome, predisposes to hypopharyngeal squamous cell carcinoma and consists of four features:
oesophageal webs or hypopharyngeal webs
The condition is more common in women.
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...
Sclerosing encapsulating peritonitis is a rare benign cause of acute or subacute small bowel obstruction. It is characterised by total or partial encasement of the small bowel within a thick fibrocollagenous membrane.
The condition was originally termed abdominal cocoon. It has als...
The seatbelt syndrome is the constellation of traumatic injuries associated with three-point seatbelts:
lumbar spine fracture
Segmental arterial mediolysis (SAM) is an increasingly recognised vascular disease of the middle-aged and elderly and a leading cause of spontanoeus intra-abdominal haemorrhage. It is characterised by fusiform aneurysms, stenoses, dissections and occlusions within splanchnic arterial branches. I...
Serrated polyposis syndrome (SPS), also called hyperplastic polyposis syndrome, is characterised by the presence of multiple serrated polyps or a mixture of serrated and hyperplastic polyps, with the exact number required for diagnosis dependent on location and family history.
SPS has an hetero...
Spigelian-cryptorchidism syndrome is the association of Spigelian hernias and cryptorchidism in children.
It is reported that ~50% (range 28-75%) range of paediatric patients with Spigelian hernias will have ipsilateral cryptorchidism 1,2.
Along with Spigelian hernia and cryptorch...
Superior mesenteric artery (SMA) syndrome, also known as Wilkie syndrome, is a rare acquired vascular compression disorder in which acute angulation of superior mesenteric artery (SMA) results in compression of the third part of the duodenum leading to obstruction.
It should not be confused wit...
Turcot syndrome is one of the variations in polyposis syndromes.
Patients typically present in the second decade 3.
Turcot syndrome is characterised by:
CNS tumours: most commonly glioblastoma or medulloblastoma
It is thought to carry...
Von Hippel-Lindau (vHL) disease is characterised by the development of numerous benign and malignant tumours in different organs (at least 40 types 1) due to mutations in the VHL tumour suppressor gene on chromosome 3.
The disease is rare with an estimated prevalence of 1:35,000-5...
Whipple triad is the clinical presentation of pancreatic insulinomas and consists of:
fasting hypoglycemia (<50 mg/dl)
symptoms of hypoglycemia
immediate relief of symptoms after the administration of IV glucose
History and etymology
As a good piece of trivia, one would suspect that Whipple...
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) ...
The Zuelzer-Wilson syndrome (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. Multiple procedures have been devised to treat the condition, including proctocolectom...