Age of onset is variable. The term 'Juvenile' in the title of Juvenile polyposis syndrome refers to the histological type of the polyps rather than age of onset.

Affected individuals may present with rectal bleeding, abdominal pain, diarrhea or anemia. On colonoscopy or sigmoidoscopy polyps that vary in shape or size are present. The polyps can be sessile or pedunculated hamartomatous polyps.

Juvenile polyposis syndrome is a syndrome characterized by the appearance of multiple juvenile polyps in the gastrointestinal tract. Polyps are abnormal growths arising from a mucous membrane. These usually begin appearing before age 20, but the term "juvenile" refers to the type of polyp, not to the age of the affected person. While the majority of the polyps found in Juvenile Polyposis Syndrome are non-neoplastic, hamartomatous, self-limiting and benign, there is an increased risk of adenocarcinoma.

Solitary juvenile polyps most commonly occur in the rectum and present with rectal bleeding. The World Health Organization criteria for diagnosis of juvenile polyposis syndrome are one of either:

1. More than five juvenile polyps in the colon or rectum; or

2. Juvenile polyps throughout the gastrointestinal tract; or

3. Any number of juvenile polyps in a person with a family history of juvenile polyposis.

Carney triad (CT) is characterized by the coexistence of three types of neoplasms, mainly in young women, including gastric gastrointestinal stromal tumor, pulmonary chondroma, and extra-adrenal paraganglioma. The underlying genetic defect remains elusive. CT is distinct from Carney complex, and the Carney-Stratakis syndrome.

Inflammatory fibroid polyp, abbreviated IFP, is a benign abnormal growth of tissue projecting into the lumen of the gastrointestinal tract.

The most common hamartomas occur in the lungs. About 5–8% of all solitary lung nodules, about 75% of all benign lung tumors, are hamartomas. They almost always arise from connective tissue and are generally formed of cartilage, connective tissue, and fat cells, although they may include many other types of cells. The great majority of them form in the connective tissue on the outside of the lungs, although about 10% form deep in the linings of the bronchi. They can be worrisome, especially if situated deep in the lung, as it is sometimes difficult to make the important distinction between a hamartoma and a lung malignancy. An X-ray will often not provide a definitive diagnosis, and even a CT scan may be insufficient if the hamartoma lacks the typical cartilage and fat cells. Lung hamartomas may have popcorn-like calcifications on chest xray or computed tomography (CT scan).

Lung hamartomas are more common in men than in women, and may present additional difficulties in smokers.

Some lung hamartomas can compress surrounding lung tissue to a degree, but this is generally not debilitating and is often asymptomatic, especially for the more common peripheral growths. They are treated, if at all, by surgical resection, with an excellent prognosis: generally, the only real danger is the inherent possibility of surgical complications.

People with Cowden syndrome develop characteristic lesions called hamartomas, which are small, noncancerous growths that are most commonly found on the skin and mucous membranes (such as the lining of the mouth, nose, and intestines), but can also occur other parts of the body, such as the thyroid and breast. The majority of affected individuals develop the characteristic skin lesions by 20 years of age.

Hamartomas are typically benign; however, people with Cowden syndrome are at increased risk of developing several types of cancer, including cancers of the breast, thyroid, uterus (endometrial), and kidney cancers. Two thirds of people have thyroid abnormalities, which usually consist of follicular adenomas (benign) or multinodular goiter of the thyroid. Up to 10 percent of people with Cowden Syndrome develop follicular thyroid cancer.

Skin abnormalities in people with Cowdens syndrome can include oral and skin papillomas and benign growths of the skin called trichilemmomas. Additional signs and symptoms of Cowden syndrome can include an enlarged head (macrocephaly), a rare noncancerous brain tumor called Lhermitte-Duclos disease, and glycogenic acanthosis of the esophagus. Up to 75% have benign breast conditions such as ductal hyperplasia, intraductal papillomatosis, adenosis, lobular atrophy, fibroadenomas, and fibrocystic changes.

One of the most troublesome hamartomas occurs on the hypothalamus. Unlike most such growths, a hypothalamic hamartoma is symptomatic; it most often causes gelastic seizures, and can cause visual problems, other seizures, rage disorders associated with hypothalamic diseases, and early onset of puberty. The symptoms typically begin in early infancy and are progressive, often into general cognitive and/or functional disability. Moreover, resection is usually difficult, as the growths are generally adjacent to, or even intertwined with, the optic nerve. Symptoms tend to be resistant to medical control; however, surgical techniques are improving and can result in immense improvement of prognosis.

IFPs consist of spindle cells that are concentrically arranged around blood vessels and have inflammation, especially eosinophils.

They may have leiomyoma/schwannoma-like areas with nuclear palisading.

They typically stain with CD34 and vimentin, and, generally, do not stain with CD117 and S100.

The endoscopic differential diagnosis includes other benign, pre-malignant and malignant gastrointestinal polyps.

The Carney complex is a distinct entity, characterized by myxomatous neoplasms (cardiac, endocrine, cutaneous and neural), and a host of pigmented lesions of the skin and mucosae, including the rarely occurring epitheloid blue nevus.

Cowden syndrome (also known as Cowden's disease and sometimes as multiple hamartoma syndrome) is a rare autosomal dominant inherited disorder characterized by multiple non-cancerous tumor-like growths called hamartomas, which typically are found in the skin, mucous membranes (mouth, nasal membranes, GI tract), thyroid gland, and breast tissue. While the hamartomas are benign, people with Cowden syndrome are at increased risk of certain forms of cancer, including breast, thyroid, uterus (endometrial), and kidney cancers.

Cowden syndrome is associated with mutations in PTEN, a tumor suppressor gene, that cause the PTEN protein not to work properly leading to hyperactivity of the mTOR pathway. These mutations lead to characteristic features including macrocephaly, intestinal hamartomatous polyps, benign skin tumors (multiple trichilemmomas, papillomatous papules, and acral keratoses) and dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease). In addition, there is a predisposition to breast carcinoma, follicular carcinoma of the thyroid, and endometrial carcinoma.

A bile duct hamartoma or biliary hamartoma, is a benign tumour-like malformation

of the liver.

They are classically associated with polycystic liver disease, as may be seen in the context of polycystic kidney disease, and represent a malformation of the liver plate.

At CT scans, bile duct hamartomas appear as small, well-defined hypo- or isoattenuating masses with little or no enhancement after contrast administration. At MRI, they appear hypointense on T1-weighted images, iso- or slightly hyperintense on T2-weighted images, and hypointense after administration of gadolinium based contrast-agent. On imaging, multiple hamartomas may look similar to metastases or microabscesses.

Gastrointestinal intraepithelial neoplasia (GIN or GIIN), also known as "digestive epithelial dysplasia" is abnormal growth (cellular dysplasia) of digestive epithelial cells in the digestive mucosa.

Gastrointestinal intraepithelial neoplasia is the potentially premalignant transformation.

Since 2000, they are classified according to the Vienna classification.

Symptoms depend on the location of the duplication. Duplications occurring high in the gastrointestinal tract (e.g. esophageal) may cause difficulty breathing due to compression of the airway. Lower gastrointestinal duplications (e.g. duodenum, colon) can be associated with abdominal pain, gastrointestinal bleeding, a palpable mass, vomiting, or may cause bowel obstruction. Smaller lesions can act as a so-called "lead point" for intussusception.

Choristomas, forms of heterotopia, are closely related benign tumors, found in abnormal locations.

It is different from hamartoma. The two can be differentiated as follows: a hamartoma is disorganized overgrowth of tissues in their normal location, (eg, Peutz-Jeghers polyps) while a choristoma is normal tissue growth in an abnormal location (e.g., gastric tissue located in distal ileum in Meckel diverticulum).

Enteric duplication cysts, sometimes simply called duplication cysts, are rare congenital malformations of the gastrointestinal tract. They most frequently occur in the small intestine, particularly the ileum, but can occur anywhere along the gastrointestinal tract. They may be cystic or tubular in conformation.

The condition of having duplication cysts has been called intestinal duplication.

Bannayan–Riley–Ruvalcaba syndrome is associated with enlarged head and benign mesodermal hamartomas (multiple hemangiomas, and intestinal polyps). Dysmorphy as well as delayed neuropsychomotor development can also be present. The head enlargement does not cause widening of the ventricles or raised intracranial pressure; these individuals have a higher risk of developing tumors, as the gene involved in BRRs is phosphatase and tensin homologue.

Some individuals have thyroid issues consistent with multinodular goiter, thyroid adenoma, differentiated non-medullary thyroid cancer,

most lesions are slowly growing. Visceral as well as intracranial involvement may occur in some cases, and can cause bleeding and symptomatic mechanical compression

Symptoms: Vomiting, abdominal pain and severe or complete constipation.

- The vitelline vessels remnant that connects the diverticulum to the umbilicus may form a fibrous or twisting band (volvulus), trapping the small intestine and causing obstruction. Localised periumbilical pain may be experienced in the right lower quadrant (like appendicitis).

- "Incarceration": when a Meckel's diverticulum is constricted in an inguinal hernia, forming a Littré hernia that obstructs the intestine.

- Chronic diverticulitis causing stricture

- Strangulation of the diverticulum in the obturator foramen.

- Tumors e.g. carcinoma: direct spread of an adenocarcinoma arising in the diverticulum may lead to obstruction

- Lithiasis, stones that are formed in Meckel's diverticulum can:

1. Extrude into the terminal ileum, leading to obstruction

2. Induce local inflammation and intussusception.

- The diverticulum itself or tumour within it may cause intussusception. For example, from the ileum to the colon, causing obstruction. Symptoms of this include "currant jelly" stools and a palpable lump in the lower abdomen. This occurs when the diverticulum inverts into the lumen of the ileum, due to either:

1. An "active" peristaltic mechanism of the diverticulum that attempts to remove irritating factors

2. A "passive" process such as the transit of food

Dieulafoy's lesion ("exulceratio simplex Dieulafoy") is a medical condition characterized by a large tortuous arteriole most commonly in the stomach wall (submucosal) that erodes and bleeds. It can present in any part of the gastrointestinal tract. It can cause gastric hemorrhage but is relatively uncommon. It is thought to cause less than 5% of all gastrointestinal bleeds in adults. It was named after French surgeon Paul Georges Dieulafoy, who described this condition in his paper "Exulceratio simplex: Leçons 1-3" in 1898. It is also called "caliber-persistent artery" or "aneurysm" of gastric vessels. However, unlike most other aneurysms, these are thought to be developmental malformations rather than degenerative changes.

Anomalies between the diverticulum and umbilicus may include the presence of fibrous cord, cyst, fistula or sinus, leading to:

- Infection or excoriation of periumbilical skin, resulting in a discharging sinus

- Recurrent infection and healing of sinus

- Abscess formation in the abdominal wall

- Fibrous cord increases the risk of volvulus formation and internal herniation

A basaloid follicular hamartoma is a cutaneous condition characterized as distinctive benign adnexal tumor that has several described variants.

Bannayan–Riley–Ruvalcaba syndrome (BRRS) is a rare overgrowth syndrome and hamartomatous disorder with occurrence of multiple subcutaneous lipomas, macrocephaly and hemangiomas. The disease is inherited in an autosomal dominant manner.

The disease belongs to a family of hamartomatous polyposis syndromes, which also includes Peutz–Jeghers syndrome, juvenile polyposis and Cowden syndrome. Mutation of the PTEN gene underlies this syndrome, as well as Cowden syndrome, Proteus syndrome, and Proteus-like syndrome, these four syndromes are referred to as PTEN Hamartoma-Tumor Syndromes.

Risk factors for small intestine cancer include:

- Crohn's disease

- Celiac disease

- Radiation exposure

- Hereditary gastrointestinal cancer syndromes: familial adenomatous polyposis, hereditary nonpolyposis colorectal cancer, Peutz-Jeghers syndrome

- Males are 25% more likely to develop the disease

Benign tumours and conditions that may be mistaken for cancer of the small bowel:

- Hamartoma

- Tuberculosis

The congenital melanocytic nevus appears as a circumscribed, light brown to black patch or plaque, potentially very heterogeneous in consistency, covering any size surface area and any part of the body.

As compared with a melanocytic nevus, congenital melanocytic nevi are usually larger in diameter and may have excess terminal hair, a condition called hypertrichosis. If over 40 cm projected adult diameter with hypertrichosis, it is sometimes called giant hairy nevus; more usually these largest forms are known as large or giant congenital melanocytic nevus. The estimated prevalence for the largest forms is 0.002% of births.

Melanocytic Nevi often grow proportionally to the body size as the child matures. As they mature, they often develop thickness, and become elevated, although these features can also be present from birth. Prominent terminal hairs often form, especially after puberty. With maturity, the nevus can have variation in color, and the surface might be textured with proliferative growths.

Neurocutaneous melanosis is associated with the presence of either giant congenital melanocytic nevi or non-giant nevi of the skin. It is estimated that neurocutaneous melanosis is present in 2% to 45% of patients with giant congenital melanocytic nevi. Neurocutaneous melanosis is characterized by the presence of congenital melanocytic nevi on the skin and melanocytic tumors in the leptomeninges of the central nervous system.

Local gigantism or localised gigantism is a condition in which a certain part of the body acquires larger than normal size due to excessive growth of the anatomical structures or abnormal accumulation of substances. It is more common in fingers and toes, where it is termed macrodactyly. However, sometimes an entire limb may be enlarged.