Most branchial cleft cysts present as a smooth, slowly enlarging lateral neck mass that may increase in size after an upper respiratory tract infection. The fistulas, when present, are asymptomatic, but may become infected.

A branchial cleft cyst is a cyst in the skin of the lateral part of the neck. It can but does not necessarily have an opening to the skin surface called a fistula. The cause is usually a developmental abnormality arising in the early prenatal period, typically failure of obliteration of the second branchial cleft, i.e. failure of fusion of the second and third branchial arches. Less commonly, the cysts can develop from the first, third, or fourth clefts, and their location and the location of associated fistulas differs accordingly.

Thyroglossal duct cysts most often present with a palpable asymptomatic midline neck mass above the level of the hyoid bone. The mass on the neck moves during swallowing or on protrusion of the tongue because of its attachment to the tongue via the tract of thyroid descent. Some patients will have neck or throat pain, or dysphagia.

The persistent duct or sinus can promote oral secretions, which may cause cysts to become infected. Up to half of thyroglossal cysts are not diagnosed until adult life. The tract can lie dormant for years or even decades, until some kind of stimulus leads to cystic dilation. Infection can sometimes cause the transient appearance of a mass or enlargement of the cyst, at times with periodic recurrences. Spontaneous drainage may also occur. Differential diagnosis are ectopic thyroid, enlarged lymph nodes, dermoid cysts and goiter.

Thyroglossal cyst usually presents as a midline neck lump (in the region of the hyoid bone) that is usually painless, smooth and cystic, though if infected, pain can occur. There may be difficulty breathing, dysphagia (difficulty swallowing), or dyspepsia (discomfort in the upper abdomen), especially if the cyst becomes large.

The most common location for a thyroglossal cyst is midline or slightly off midline, between the isthmus of the thyroid and the hyoid bone or just above the hyoid bone. A thyroglossal cyst can develop anywhere along a thyroglossal duct, though cysts within the tongue or in the floor of the mouth are rare.A thyroglossal cyst will move upwards with protrusion of the tongue.Thyroglossal cysts are associated with an increased incidence of ectopic thyroid tissue. Occasionally, a lingual thyroid can be seen as a flattened strawberry-like lump at the base of the tongue.

The general presentation is of a skin-covered nodule, papule, or nodule of the skin surface, usually immediately anterior to the auricle. However, it may be anywhere within the periauricular tissues. Bilateral presentation can be seen.

An infected thyroglossal duct cyst can occur when it is left untreated for a certain amount of time or simply when a thyroglossal duct cyst hasn't been suspected. The degree of infection can be examined as major rim enhancement has occurred, located inferior to the hyoid bone. Soft tissue swelling occurs, along with airway obstruction and trouble swallowing, due to the rapid enlargement of the cyst.

With infections, there can be rare cases where an expression of fluid is projected into the pharynx causing other problems within the neck.

Cystic hygromas are increasingly diagnosed by prenatal ultrasonography. A common symptom is a neck growth. It may be found at birth, or discovered later in an infant after an upper respiratory tract infection. Cystic hygromas can grow very large and may affect breathing and swallowing. Some symptoms may include a mass or lump in the mouth, neck, cheek, or tongue. It feels like a large fluid-filled sac. In addition, cystic hygromas can be found in other body parts such as the arm, chest, legs, groin, and buttocks. Cystic hygromas are also often seen in Turner's syndrome, although a patient who does not have Turner's syndrome can present with this condition.

The lesions presents as a nodule or papule, either sessile or pedunculated. They may be soft or have a cartilaginous structure. By histologic examination, it is a recapitulation of normal external auricle. There will be skin, cartilaginous structures, and cartilage (although the later is not seen in all variants of this disorder). Some investigators believe that the tragus is the only hillock which is derived from the first branchial arch. This is clearly suggestive that true cases of Accessory Auricle represent a true duplication of the hillocks that were part of the second branchial arch. The second ear appears as a mirror image folded forward and lying on the posterior cheek.

The nasopalatine cyst is the most common non-odontogenic cyst of the oral cavity, at an estimated occurrence rate of 73%.

A cystic hygroma, also known as cystic lymphangioma and macrocystic lymphatic malformation, is an often congenital multiloculated lymphatic lesion that can arise anywhere, but is classically found in the left posterior triangle of the neck and armpits. This is the most common form of lymphangioma. It contains large cyst-like cavities containing lymph, a watery fluid that circulates throughout the lymphatic system. Microscopically, cystic hygroma consists of multiple locules filled with lymph. In the depth, the locules are quite big but they decrease in size towards the surface.

Cystic hygromas are benign, but can be disfiguring. It is a condition which usually affects children; very rarely it can present in adulthood.

Cystic hygroma is also known as lymphatic malformation. Currently, the medical field prefers to use the term lymphatic malformation because the term cystic hygroma means water tumor. Lymphatic malformation is more commonly used now because it is a sponge-like collection of abnormal growth that contains clear lymphatic fluid. The fluid collects within the cysts or channels, usually in the soft tissue. Cystic hygromas occur when the lymphatic vessels that make up the lymphatic system are not formed properly. There are two types of lymphatic malformations. They are macrocystic lymphatic malformations, large cysts, and microcystic, small cysts. A person may have only one kind of the malformation or can have a mixture of both macro and micro cysts.

Cystic hygroma can be associated with a nuchal lymphangioma or a fetal hydrops. Additionally, it can be associated with Turner syndrome or with Noonan syndrome.

A lethal version of this condition is known as Cowchock Wapner Kurtz syndrome that, in addition to cystic hygroma, includes cleft palate and lymphedema, a condition of localized edema and tissue swelling caused by a compromised lymphatic system.

A primordial cyst is a developmental odontogenic cyst. It is found in an area where a tooth should have formed but is missing. Primordial cysts most commonly arise in the area of mandibular third molars. Under microscopes, the cyst looks like an odontogenic keratocyst (also called a Keratocyst odontogenic tumor) whereby the lesions displays a parakeratinized epithelium with palisading basal epithelial cells.

The term "Primordial cyst" is considered an outdated term and should be avoided. Most "primordial cysts" are actually Keratocyst odontogenic tumors (KOT's).

Nasopalatine duct cysts usually present as asymptomatic palatal swellings, but they may rarely be accompanied by pain and/or purulent discharge. The cysts are generally treated by .

Cysts rarely cause any symptoms, unless they become secondarily infected. The signs depend mostly upon the size and location of the cyst. If the cyst has not expanded beyond the normal anatomical boundaries of the bone, then there will be no palpable lump outside or inside the mouth. The vast majority of cysts expand slowly, and the surrounding bone has time to increase its density around the lesion, which is the body's attempt to isolate the lesion. Cysts that have expanded beyond the normal anatomic boundaries of a bone are still often covered with a thin layer of new bone. At this stage, there may be a sign termed "eggshell cracking", where the thinned cortical plate cracks when pressure is applied. A lump may be felt, which may feel hard if there is still bone covering the cyst, or fluctuant if the cyst has eroded through the bone surrounding it. A cyst may become acutely infected, and discharge into the oral cavity via a sinus. Adjacent teeth may be loosened, tilted or even moved bodily. Rarely, roots of teeth are resorbed, depending upon the type of cyst. The inferior alveolar nerve runs through the mandible and supplies sensation to the lower lip and chin. As most cysts expand slowly, there will be no altered sensation (anesthesia or paraesthesia), since the inferior alveolar canal is harmlessly enveloped or displaced over time. More aggressive cysts, or acute infection of any cyst may cause altered sensation.

Midfacial malformations can be subdivided into two different groups. One group with hypertelorism, this includes FND. The other with hypotelorism (a decreased distance between the eyes), this includes holoprosencephaly (failure of development of the forebrain). In addition, a facial cleft can be classified using the Tessier classification. Each of the clefts is numbered from 0 to 14. The 15 different types of clefts are then subdivided into 4 groups, based on their anatomical position in the face: midline clefts, paramedian clefts, orbital clefts and lateral clefts. FND is a midline cleft, classified as Tessier 0/14.

Besides this, the additional anomalies seen in FND can be subdivided by region. None of these anomalies are specific for the syndrome of FND, but they do occur more often in patients with FND than in the population. The anomalies that may be present are:

- Nasal: mild anomalies to nostrils that are far apart and a broad nasal root, a notch or cleft of the nose and accessory nasal tags.

- Ocular: narrowed eye slits, almond shaped eyes, epicanthal folds (extra eyelid tissue), epibulbar dermoids (benign tumors of the eye), upper eyelid colombas (full thickness upper eyelid defects), microphtalmos (one or two small eyes), congenital cataract and degeneration of the eye with retinal detachment.

- Facial: telecanthus (an increased distance between the corners of the eye), a median cleft of the upper lip and/or palatum, and a V-shaped hairline.

- Others: polydactyly (an excess of fingers or toes), syndactyly (fused fingers or toes), brachydactyly (short fingers and/or toes), clinodactyly (bending of the fifth fingers towards the fourth fingers), preauricular skin tags, an absent tragus, low set ears, deafness, small frontal sinuses, mental retardation, encephalocele (protrusion of the brain), spina bifida (split spine), meningoencephalocele (protrusion of both meninges), umbilical hernia, cryptorchidism (absence of one or two testes) and possibly cardiac anomalies.

The clefts of the face that are present in FND are vertical clefts. These can differ in severity. When they are less severe, they often present with hypertelorism and normal brain development.

Mental retardation is more likely when the hypertelorism is more severe or when extracephalic anomalies occur.

The Pai Syndrome is a rare subtype of frontonasal dysplasia. It is a triad of developmental defects of the face, comprising midline cleft of the upper lip, nasal and facial skin polyps and central nervous system lipomas. When all the cases are compared, a difference in severity of the midline cleft of the upper lip can be seen. The mild form presents with just a gap between the upper teeth. The severe group presents with a complete cleft of the upper lip and alveolar ridge.

Nervous system lipomas are rare congenital benign tumors of the central nervous system, mostly located in the medial line and especially in the corpus callosum. Generally, patients with these lipomas present with strokes. However, patients with the Pai syndrome don’t. That is why it is suggested that isolated nervous system lipomas have a different embryological origin than the lipomas present in the Pai syndrome. The treatment of CNS lipomas mainly consists of observation and follow up.

Skin lipomas occur relatively often in the normal population. However, facial and nasal lipomas are rare, especially in childhood. However, the Pai syndrome often present with facial and nasal polyps. These skin lipomas are benign, and are therefore more a cosmetic problem than a functional problem.

The skin lipomas can develop on different parts of the face. The most common place is the nose. Other common places are the forehead, the conjunctivae and the frenulum linguae. The amount of skin lipomas is not related to the severity of the midline clefting.

Patients with the Pai syndrome have a normal neuropsychological development.

Until today there is no known cause for the Pai syndrome.

The large variety in phenotypes make the Pai syndrome difficult to diagnose. Thus the incidence of Pai syndrome seems to be underestimated.

Odontogenic cysts have histologic origins in the cells of the dental structures. Some are inflammatory while others are developmental.

- Radicular cyst is the most common (up to two thirds of all cysts of the jaws). This inflammatory cyst originated from a reaction to dental pulp necrosis.

- Dentigerous cyst, the second most prevalent cyst, is associated with the crown of non-erupted tooth.

- Odontogenic keratocyst, which now is considered as tumor, and therefore called "Keratocystic odontogenic tumor". This lesion may be associated with the Nevoid basal cell carcinoma syndrome.

- Buccal bifurcation cyst which appears in the buccal bifurcation region of the mandibular first molars in the second half of the first decade of life.

- Eruption cyst; a small cyst in the gingiva as a tooth erupts, forming from the degenerating dental follicle

- Primordial cyst; previous thought to be a unique entity. Most primordial cysts have proven to be Keratocystic odontogenic tumors

- Orthokeratinized odontogenic cyst; a variant of the Keratocystic odontogenic tumor

- Gingival cyst of the newborn; an inclusion cyst from remanents of the dental lamina on a newborn gingiva

- Gingival cyst of the adult; a soft tissue variant of the lateral periodontal cyst

- Lateral periodontal cyst; a non-inflammatory cyst (vs a radicular cyst) on the side of a tooth derived from remanents of the dental lamina

- Calcifying odontogenic cyst; a rare lesion with cystic and neoplastic features and significant diversity in presentation, histology and prognosis

- Glandular odontogenic cyst; cyst with respiratory like epithelial lining and the potential for recurrence with characteristics similar to a central variant of low-grade mucoepidermoid carcinoma

The scalp, ears, back, face, and upper arm, are common sites of sebaceous cysts, though they may occur anywhere on the body except the palms of the hands and soles of the feet. In males a common place for them to develop is the scrotum and chest. They are more common in hairier areas, where in cases of long duration they could result in hair loss on the skin surface immediately above the cyst. They are smooth to the touch, vary in size, and are generally round in shape.

They are generally mobile masses that can consist of:

- Fibrous tissues and fluids,

- A fatty (keratinous) substance that resembles cottage cheese, in which case the cyst may be called "keratin cyst". This material has a characteristic "cheesy" or foot odor smell,

- A somewhat viscous, serosanguineous fluid (containing purulent and bloody material).

The nature of the contents of a sebaceous cyst, and of its surrounding capsule, differs depending on whether the cyst has ever been infected.

With surgery, a cyst can usually be excised in its entirety. Poor surgical technique, or previous infection leading to scarring and tethering of the cyst to the surrounding tissue, may lead to rupture during excision and removal. A completely removed cyst will not recur, though if the patient has a predisposition to cyst formation, further cysts may develop in the same general area.

A median mandibular cyst is a type of cyst that occurs in the midline of the mandible, thought to be created by proliferation and cystic degeneration of resting epithelial tissue that is left trapped within the substance of the bone during embryologic fusion of the two halves of the mandible, along the plane of fusion later termed the symphysis menti. A ture median mandibular cyst would therefore be classified as a non-odontogenic, fissural cyst. The existence of this lesion as a unique clinical entity is controversial, and some reported cases may have represented misdiagnosed odontogenic cysts, which are by far the most common type of intrabony cyst occurring in the jaws. It has also been suggested that the mandible develops as a bilobed proliferation of mesenchyme connected with a central isthmus. Therefore, it is unlikely that epithelial tissue would become trapped as there is no ectoderm separating the lobes in the first instance.

Symptoms are assessed on a case by case basis. Some cysts in the CNS can be asymptomatic (producing or showing no symptoms), depending on their location in the brain or spinal cord. If the cysts develop in critical areas of the central nervous system, they can present one or more of the following symptoms:

- Pressure in the spinal cord or brain

- Rupture of nerves around the cyst

- Weakness in specific parts of the body controlled by the cyst-infected brain region

- Inflammation

- Hydrocephalus

- Brainstem hemorrhage

- Seizures

- Visual disturbances and hearing Loss

- Headache

- Difficulty with balance or walking

In general, symptoms vary depending on the type of cyst and its location within the CNS.

Midline cervical clefts are a rare congenital anomaly resulting from incomplete fusion during embryogenesis of the first and second branchial arches in the ventral midline of the neck. The condition presents as a midline cutaneous defect of the anterior neck with a skin projection or sinus, or as a subcutaneous erythematous fibrous cord. Surgical excision is the preferred treatment.

The median palatal cyst is a rare cyst that may occur anywhere along the median palatal raphe. It may produce swelling because of infection and is treated by excision or surgical removal.

Some investigators now believe that this cyst represents a more posterior presentation of a nasopalatine duct cyst, rather than a separate cystic degeneration of epithelial rests at the line of fusion of the palatine shelves.

Nasal dysplasia or nasoschisis is caused by a development arrest of the lateral side of the nose, resulting in a cleft in one of the nasal halves. The nasal septum and cavity can be involved, though this is rare. Nasoschisis is also characterized by hypertelorism.

This nasolabial cyst, also known as a nasoalveolar cyst, is located superficially in the soft tissues of the upper lip. Unlike most of the other developmental cysts, the nasolabial cyst is an example of an extraosseous cyst, one that occurs outside of bone. It will therefore not show up on a radiograph, or an X-ray film.

A small cyst that requires magnification to be seen, may be called a microcyst. Similarly, a cyst that is larger than usual or compared to others, may be called a macrocyst.

Due to its classification, a dermoid cyst can occur wherever a teratoma can occur.

About 90% of pilar cysts occur on the scalp, with the remaining sometimes occurring on the face, trunk and extremities. Pilar cysts are significantly more common in females, and a tendency to develop these cysts is often inherited in an autosomal dominant pattern. In most cases, multiple pilar cysts appear at once.