The occurrence (incidence) on abdominal or chest X-rays is around 0.1% but it can be up to 1% in series of older adults. It has also been reported in children.

The exact cause is not always known, but it may occur in patients with a long and mobile colon (dolichocolon), chronic lung disease such as emphysema, or liver problems such as cirrhosis and ascites. Chilaiditi's sign is generally not associated with symptoms, and is most commonly an incidental finding in normal individuals.

Absence or laxity of the ligament suspending the transverse colon or of the falciform ligament are also thought to contribute to the condition. It can also be associated with relative atrophy of the medial segment of the left lobe of the liver. In this case, the gallbladder position is often anomalous as well – it is often located anterior to the liver, rather than posterior.

In medicine, a dolichocolon (word derived from ancient Greek "dolichos", the long distance in running, and colon) is an abnormally long large intestine. It should not be confused with an abnormally wide large intestine, which is called a megacolon.

Dolichocolon may predispose to abnormal rotation (see volvulus) and interposition between the diaphragm and the liver (see Chilaiditi syndrome). It is more commonly seen in the elderly, some psychiatric patients or in institutionalised individuals. It is not, however, a part of normal aging. The exact cause remains unknown.

Dolichocolon is often an incidental finding on abdominal X-rays or colonoscopy. It is not by itself a disease and as such requires no treatment.

Respiratory complications are often cause of death in early infancy.

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

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.

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.

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.

As differential diagnoses, a subphrenic abscess, bowel interposed between diaphragm and liver (Chilaiditi syndrome), and linear atelectasis at the base of the lungs can simulate free air under the diaphragm on a chest X-ray.

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

When present, pneumoperitoneum can often be seen on projectional radiography, but small amounts are often missed, and CT scan is nowadays regarded as a criterion standard in the assessment of a pneumoperitoneum. CT can visualize quantities as small as 5 cm³ of air or gas.

Signs that can be seen on projectional radiography are the "double wall sign" (also called "Rigler's sign") and the "football sign".

The "double wall sign" marks the presence of air on both sides of the intestine. However, a false double wall sign can result from two loops of bowel being in contact with one another. The sign is named after Leo George Rigler. It is not the same as Rigler's triad.

The "football sign" is when the abdomen appears as a large oval radiolucency reminiscent of an American football on a supine projectional radiograph. The football sign is most frequently seen in infants with spontaneous or iatrogenic gastric perforation causing pneumoperitoneum. It is also seen in bowel obstruction with secondary perforation, as in Hirschprung disease, midgut volvulus, meconium ileus and intestinal atresia. Iatrogenic causes like endoscopic perforation may also give football sign.

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.

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.

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.

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.

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.

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.

Scalp–ear–nipple syndrome (also known as "Finlay–Marks syndrome") is a condition associated with aplasia cutis congenita.

At this time, there are no other phenotypes (observable expressions of a gene) that have been discovered for mutations in the ESCO2 gene.

Nevo Syndrome is considered to be a rare disorder. Since its first appearance in 1974, only a handful of cases have been reported. Studies have shown showing similarities between Nevo Syndrome with Ehlers-Danlos syndrome as well as Sotos syndrome. There is an astounding overlap of phenotypic manifestations between Nevo Syndrome and the more frequent Sotos syndrome, which are both caused by the NSD1 deletion. Sotos syndrome is an autosomal dominant condition associated with learning disabilities, a distinctive facial appearance, and overgrowth. Studies have shown an overwhelming occurrence (half of those involved in the study) of Nevo syndrome in those individuals of Middle-Eastern descent.

Nevo Syndrome is a rare autosomal recessive disorder that usually begins during the later stages of pregnancy. Nevo Syndrome is caused by a NSD1 deletion, which encodes for methyltransferase involved with chromatin regulation. The exact mechanism as to how the chromatin is changed is unknown and still being studied. Nevo Syndrome is an example of one of about twelve overgrowth syndromes known today. Overgrowth syndromes are characterized with children experiencing a significant overgrowth during pregnancy and also excessive postnatal growth. Studies concerning Nevo Syndrome have shown a similar relation to Ehlers-Danlos syndrome, a connective tissue disorder. Nevo Syndrome is associated with kyphosis, an abnormal increased forward rounding of the spine, joint laxity, postpartum overgrowth, a highly arched palate, undescended testes in males, low-set ears, increased head circumference, among other symptoms.

It is likely that this syndrome is inherited in an autosomal dominant fashion, however there may be a recessive form with hypotonia and developmental delay.

Overgrowth syndromes in children constitute a group of rare disorders that are typical of tissue hypertrophy. Individual overgrowth syndromes have been shown to overlap with regard to clinical and radiologic features. The details of the genetic bases of these syndromes are unfolding. Any of the three embryonic tissue layers may be involved.The syndromes may manifest in localized or generalized tissue overgrowth. Latitudinal and longitudinal growth may be affected. Nevertheless, the musculoskeletal features are central to the diagnosis of some syndromes such as Proteus syndrome. The time of presentation of children with overgrowth syndromes is an important contributor to the differential diagnosis. Children with some overgrowth syndromes such as Klippel-Trenaunay-Weber syndrome can be readily detectable at birth. In contrast other overgrowth syndromes such as Proteus syndrome usually present in the postnatal period characteristically between the 2nd and 3rd year of life. In general, children with overgrowth syndromes are at increased risk of embryonic tumor development.

Examples of overgrowth syndromes include; Beckwith-Wiedemann syndrome, Proteus syndrome, Sotos syndrome, neurofibromatosis, Simpson-Golabi-Behmel syndrome, Weaver syndrome, Sturge–Weber syndrome, Macrocephaly-capillary malformation, CLOVES syndrome, fragile X syndrome and Klippel-Trenaunay-Weber syndrome.

The pattern of inheritance is determined by the phenotypic expression of a gene—which is called "expressivity". Camptodactyly can be passed on through generations in various levels of phenotypic expression, which include both or only one hand. This means that the genetic expressivity is incomplete. It can be inherited from either parent.

In most of its cases, camptodactyly occurs sporadically, but it has been found in several studies that it is inherited as an autosomal dominant condition.

The prognosis varies widely from case to case, depending on the severity of the symptoms. However, almost all people reported with Aicardi syndrome to date have experienced developmental delay of a significant degree, typically resulting in mild to moderate to profound intellectual disability. The age range of the individuals reported with Aicardi syndrome is from birth to the mid 40s.

There is no cure for this syndrome.