Esophageal rupture in Boerhaave syndrome is thought to be the result of a sudden rise in internal esophageal pressure produced during vomiting, as a result of neuromuscular incoordination causing failure of the cricopharyngeus muscle (a sphincter within the esophagus) to relax. As the intra-oesophageal pressure increases, the bolus within the oesophagus has nowhere to go superiorly (as the cricopharyngeus fails to relax) which causes the oesophagus to rupture. (this makes little sense and should be justified if true: the lesion is down, the cricopharyngeus is up). The syndrome is commonly associated with the consumption of excessive food and/or alcohol as well as eating disorders such as bulimia.

The most common anatomical location of the tear in Boerhaave syndrome is at left posterolateral wall of the lower third of the esophagus, 2–3 cm before the stomach.

Currently, the most common cause of esophageal perforation is iatrogenic. However, iatrogenic perforations, while still constituting a serious medical condition, are easier to treat and less prone to complications, particularly mediastinitis and sepsis. This is because they usually do not involve contamination of the mediastinum with gastric contents.

With the exception of a few case reports describing survival without surgery, the mortality of untreated Boerhaave syndrome is nearly 100%. Its treatment includes immediate antibiotic therapy to prevent mediastinitis and sepsis, surgical repair of the perforation, and if there is significant fluid loss it should be replaced with IV fluid therapy since oral rehydration is not possible. Even with early surgical intervention (within 24 hours) the risk of death is 25%.

Macklin described the pathophysiology of Hamman's syndrome to be barotrauma, whereby rupture of alveolar membranes causes a positive pressure gradient of air from the lungs into the mediastinum (the Macklin effect).

The cause of Hamman's syndrome is most commonly unknown (idiopathic).

Excessive duration and/or intensity of activities that mimic valsalva manoeuvres, "i.e." that increase intrathoracic pressure, can cause barotrauma, and hence pregnancy (and constipation and other causes of excessive straining) can be a precipitating cause of Hamman's syndrome. Indeed, it is estimated to occur in approximately 1 in 100,000 live births and is associated with prolonged labour times

Additionally, vomiting and coughing have also been noted as occasional precipitating factors. Hamman's is thus unsurprisingly occasionally known to be associated with asthma ("i.e." frequent coughing), alcohol abuse ("i.e." frequent vomiting) and inhalational illicit drug use (such as cocaine use).

Despite these associations, often, no precipitating cause is found.

There is considerable research into the causes, diagnosis and treatments for FGIDs. Diet, microbiome, genetics, neuromuscular function and immunological response all interact. Heightened mast cell activation has been proposed to be a common factor among FGIDs, contributing to visceral hypersensitivity as well as epithelial, neuromuscular, and motility dysfunction.

Functional gastrointestinal disorders are very common. Globally, irritable bowel syndrome and functional dyspepsia alone may affect 16–26% of the population.

Muir–Torre was observed to occur in 14 of 50 families (28%) and in 14 of 152 individuals (9.2%) with Lynch syndrome, also known as HNPCC.

The 2 major MMR proteins involved are hMLH1 and hMSH2. Approximately 70% of tumors associated with the MTS have microsatellite instability. While germline disruption of hMLH1 and hMSH2 is evenly distributed in HNPCC, disruption of hMSH2 is seen in greater than 90% of MTS patients.

Gastrointestinal and genitourinary cancers are the most common internal malignancies. Colorectal cancer is the most common visceral neoplasm in Muir–Torre syndrome patients.

When a pleural effusion has been determined to be exudative, additional evaluation is needed to determine its cause, and amylase, glucose, pH and cell counts should be measured.

- Red blood cell counts are elevated in cases of bloody effusions (for example after heart surgery or hemothorax from incomplete evacuation of blood).

- Amylase levels are elevated in cases of esophageal rupture, pancreatic pleural effusion, or cancer.

- Glucose is decreased with cancer, bacterial infections, or rheumatoid pleuritis.

- pH is low in empyema (<7.2) and may be low in cancer.

- If cancer is suspected, the pleural fluid is sent for cytology. If cytology is negative, and cancer is still suspected, either a thoracoscopy, or needle biopsy of the pleura may be performed.

- Gram staining and culture should also be done.

- If tuberculosis is possible, examination for "Mycobacterium tuberculosis" (either a Ziehl–Neelsen or Kinyoun stain, and mycobacterial cultures) should be done. A polymerase chain reaction for tuberculous DNA may be done, or adenosine deaminase or interferon gamma levels may also be checked.

The most common causes of exudative pleural effusions are bacterial pneumonia, cancer (with lung cancer, breast cancer, and lymphoma causing approximately 75% of all malignant pleural effusions), viral infection, and pulmonary embolism.

Another common cause is after heart surgery, when incompletely drained blood can lead to an inflammatory response that causes exudative pleural fluid.

Conditions associated with exudative pleural effusions:

- Parapneumonic effusion due to pneumonia

- Malignancy (either lung cancer or metastases to the pleura from elsewhere)

- Infection (empyema due to bacterial pneumonia)

- Trauma

- Pulmonary infarction

- Pulmonary embolism

- Autoimmune disorders

- Pancreatitis

- Ruptured esophagus (Boerhaave's syndrome)

- Rheumatoid pleurisy

- Drug-induced lupus

The mediastinum (from Medieval Latin "mediastinus", "midway") is the central compartment of the thoracic cavity surrounded by loose connective tissue, as an undelineated region that contains a group of structures within the thorax. The mediastinum contains the heart and its vessels, the esophagus, trachea, phrenic and cardiac nerves, the thoracic duct, thymus and lymph nodes of the central chest.

Respiratory complications are often cause of death in early infancy.

The most common causes of transudative pleural effusions in the United States are heart failure and cirrhosis. Nephrotic syndrome, leading to the loss of large amounts of albumin in urine and resultant low albumin levels in the blood and reduced colloid osmotic pressure, is another less common cause of pleural effusion. Pulmonary emboli were once thought to cause transudative effusions, but have been recently shown to be exudative.

The mechanism for the exudative pleural effusion in pulmonary thromboembolism is probably related to increased permeability of the capillaries in the lung, which results from the release of cytokines or inflammatory mediators (e.g. vascular endothelial growth factor) from the platelet-rich blood clots. The excessive interstitial lung fluid traverses the visceral pleura and accumulates in the pleural space.

Conditions associated with transudative pleural effusions include:

- Congestive heart failure

- Liver cirrhosis

- Severe hypoalbuminemia

- Nephrotic syndrome

- Acute atelectasis

- Myxedema

- Peritoneal dialysis

- Meigs' syndrome

- Obstructive uropathy

- End-stage kidney disease

The first gene that could cause the syndrome is described recently and is called NF1X (chromosome 19: 19p13.1).

Roberts syndrome is an extremely rare condition that only affects about 150 reported individuals. Although there have been only about 150 reported cases, the affected group is quite diverse and spread worldwide. Parental consanguinity (parents are closely related) is common with this genetic disorder. The frequency of Roberts syndrome carriers is unknown.

Harlequin syndrome is not debilitating so treatment is not normally necessary. In cases where the individual may feel socially embarrassed, contralateral sympathectomy may be considered, although compensatory flushing and sweating of other parts of the body may occur. In contralateral sympathectomy, the nerve bundles that cause the flushing in the face are interrupted. This procedure causes both sides of the face to no longer flush or sweat. Since symptoms of Harlequin syndrome do not typically impair a person’s daily life, this treatment is only recommended if a person is very uncomfortable with the flushing and sweating associated with the syndrome.

One possible cause of Harlequin syndrome is a lesion to the preganglionic or postganglionic cervical sympathetic fibers and parasympathetic neurons of the ciliary ganglion. It is also believed that torsion (twisting) of the thoracic spine can cause blockage of the anterior radicular artery leading to Harlequin syndrome. The sympathetic deficit on the denervated side causes the flushing of the opposite side to appear more pronounced. It is unclear whether or not the response of the undamaged side was normal or excessive, but it is believed that it could be a result of the body attempting to compensate for the damaged side and maintain homeostasis.

Since the cause and mechanism of Harlequin syndrome is still unknown, there is no way to prevent this syndrome.

Air in subcutaneous tissue does not usually pose a lethal threat; small amounts of air are reabsorbed by the body. Once the pneumothorax or pneumomediastinum that causes the subcutaneous emphysema is resolved, with or without medical intervention, the subcutaneous emphysema will usually clear. However, spontaneous subcutaneous emphysema can, in rare cases, progress to a life-threatening condition, and subcutaneous emphysema due to mechanical ventilation may induce ventilatory failure.

Subcutaneous emphysema is a common result of certain types of surgery; for example it is not unusual in chest surgery. It may also occur from surgery around the esophagus, and is particularly likely in prolonged surgery. Other potential causes are positive pressure ventilation for any reason and by any technique, in which its occurrence is frequently unexpected. It may also occur as a result of oral surgery, laparoscopy, and cricothyrotomy. In a pneumonectomy, in which an entire lung is removed, the remaining bronchial stump may leak air, a rare but very serious condition that leads to progressive subcutaneous emphysema. Air can leak out of the pleural space through an incision made for a thoracotomy to cause subcutaneous emphysema. On infrequent occasions, the condition can result from dental surgery, usually due to use of high-speed tools that are air driven. These cases result in usually painless swelling of the face and neck, with an immediate onset, the crepitus (crunching sound) typical of subcutaneous emphysema, and often with subcutaneous air visible on X-ray.

One of the main causes of subcutaneous emphysema, along with pneumothorax, is an improperly functioning chest tube. Thus subcutaneous emphysema is often a sign that something is wrong with a chest tube; it may be clogged, clamped, or out of place. The tube may need to be replaced, or, when large amounts of air are leaking, a new tube may be added.

Since mechanical ventilation can worsen a pneumothorax, it can force air into the tissues; when subcutaneous emphysema occurs in a ventilated patient, it is an indication that the ventilation may have caused a pneumothorax. It is not unusual for subcutaneous emphysema to result from positive pressure ventilation. Another possible cause is a ruptured trachea. The trachea may be injured by tracheostomy or tracheal intubation; in cases of tracheal injury, large amounts of air can enter the subcutaneous space. An endotracheal tube can puncture the trachea or bronchi and cause subcutaneous emphysema.

More than 80% of children with Patau syndrome die within the first year of life. Children with the mosaic variation are usually affected to a lesser extent. In a retrospective Canadian study of 174 children with trisomy 13, median survival time was 12.5 days. One and ten year survival was 19.8% and 12.9% respectively.

The specific cause of camptodactyly remains unknown, but there are a few deficiencies that lead to the condition. A deficient lumbrical muscle controlling the flexion of the fingers, and abnormalities of the flexor and extensor tendons.

A number of congenital syndromes may also cause camptodactyly:

- Jacobsen syndrome

- Beals Syndrome

- Blau syndrome

- Freeman-Sheldon syndrome

- Cerebrohepatorenal syndrome

- Weaver syndrome

- Christian syndrome 1

- Gordon Syndrome

- Jacobs arthropathy-camptodactyly syndrome

- Lenz microphthalmia syndrome

- Marshall-Smith-Weaver syndrome

- Oculo-dento-digital syndrome

- Tel Hashomer camptodactyly syndrome

- Toriello-Carey syndrome

- Stuve-Wiedemann syndrome

- Loeys-Dietz syndrome

- Fryns syndrome

- Marfan's syndrome

- Carnio-carpo-tarsal dysthropy

In a newborn boy thought to have Fryns syndrome, Clark and Fenner-Gonzales (1989) found mosaicism for a tandem duplication of 1q24-q31.2. They suggested that the gene for this disorder is located in that region. However, de Jong et al. (1989), Krassikoff and Sekhon (1990), and Dean et al. (1991) found possible Fryns syndrome associated with anomalies of chromosome 15, chromosome 6, chromosome 8(human)and chromosome 22, respectively. Thus, these cases may all represent mimics of the mendelian syndrome and have no significance as to the location of the gene for the recessive disorder.

By array CGH, Slavotinek et al. (2005) screened patients with DIH and additional phenotypic anomalies consistent with Fryns syndrome for cryptic chromosomal aberrations. They identified submicroscopic chromosome deletions in 3 probands who had previously been diagnosed with Fryns syndrome and had normal karyotyping with G-banded chromosome analysis. Two female infants were found to have microdeletions involving 15q26.2 (see 142340), and 1 male infant had a deletion in band 8p23.1 (see 222400).

In the United States, sarcoidosis has a prevalence of approximately 10 cases per 100,000 whites and 36 cases per 100,000 blacks. Heerfordt syndrome is present in 4.1–5.6% of those with sarcoidosis.

The incidence of Fraser syndrome is 0.043 per 10,000 live born infants and 1.1 in 10,000 stillbirths, making it a rare syndrome.

Fraser syndrome (also known as Meyer-Schwickerath's syndrome, Fraser-François syndrome, or Ullrich-Feichtiger syndrome) is an autosomal recessive congenital disorder. Fraser syndrome is named for the geneticist George R. Fraser, who first described the syndrome in 1962.

As there is no known cure, Loeys–Dietz syndrome is a lifelong condition. Due to the high risk of death from aortic aneurysm rupture, patients should be followed closely to monitor aneurysm formation, which can then be corrected with interventional radiology or vascular surgery.

Previous research in laboratory mice has suggested that the angiotensin II receptor antagonist losartan, which appears to block TGF-beta activity, can slow or halt the formation of aortic aneurysms in Marfan syndrome. A large clinical trial sponsored by the National Institutes of Health is currently underway to explore the use of losartan to prevent aneurysms in Marfan syndrome patients. Both Marfan syndrome and Loeys–Dietz syndrome are associated with increased TGF-beta signaling in the vessel wall. Therefore, losartan also holds promise for the treatment of Loeys–Dietz syndrome. In those patients in which losartan is not halting the growth of the aorta, irbesartan has been shown to work and is currently also being studied and prescribed for some patients with this condition.

If an increased heart rate is present, atenolol is sometimes prescribed to reduce the heart rate to prevent any extra pressure on the tissue of the aorta. Likewise, strenuous physical activity is discouraged in patients, especially weight lifting and contact sports.

Several genetic causes of Loeys–Dietz syndrome have been identified. A "de novo" mutation in TGFB3, a ligand of the TGF ß pathway, was identified in an individual with a syndrome presenting partially overlapping symptoms with Marfan Syndrome and Loeys-Dietz Syndrome.