Lip pits are harmless and do not usually require any treatment, although in some reported cases surgical excision has been used.

Macrostomia, (from the Greek prefix "makro-" meaning "large" and from Greek , "mouth") refers to a mouth that is unusually wide.

Macrostomia is characterized as a physical abnormality that causes clefts to form on the face of affected individuals. These clefts can form on either or both sides of the face, but they are most commonly seen on the right cheek and have a higher rate of occurrence in males. Macrostomia is very irregular and on average occurs only once in every 150,000 to 300,000 live births. It's unusual for macrostomia to occur on its own and it is included as a symptom for many diseases including craniofacial microsomia. The clefts result from improper development and fusion of the mandibular and maxillary processes. The clefts cause problems with facial muscle development. The origin of macrostomia is not yet fully understood it could have multiple causes.

There are 4 distinct variations of macrostomia. Classifications are a complete lateral facial cleft, simple macrostomia, macrostomia with diastasis of the facial musculature, and isolated facial musculature diastasis. Each has a different physical appearance with varying levels of severity.

The cleft associated with macrostomia is associated with improper or failed fusion of the mandibular and maxillary processes during embryonic development. This can lead to a variety of abnormalities involving skin, subcutaneous tissue, facial muscles, and the mucous membrane. The severity of each abnormality can vary from minor to severe. Environmental contaminants may play a role in causing macrostomia. Many affected individuals were found in Lagos, an industrial area of Nigeria, where water supplies are known to be contaminated by improper disposal of industrial and domestic waste.

A congenital lip pit or lip sinus is a congenital disorder characterized by the presence of pits and possibly associated fistulas in the lips. They are often hereditary, and may occur alone or in association with cleft lip and palate, termed Van der Woude syndrome.

Currently there is no specific treatment for this condition. Management is supportive.

The primary aim of treatment of a newly formed oroantral communication is to prevent the development of an oroantral fistula as well as chronic sinusitis. The decision on how to treat OAC/OAF depends on various factors. Small size communications between 1 and 2 mm in diameter, if uninfected, are likely to form a clot and heal by itself later. Communications larger than this require treatments to close the defect and these interventions can be categorised into 3 types: surgical, non-surgical and pharmacological.

Following all methods of OAC/OAF closure, the patients are instructed to avoid activities that could produce pressure changes between the nasal passages and oral cavity for at least 2 weeks due to risk of disruption to the healing process. Nose blowing and sneezing with a closed mouth are prohibited. A soft diet is also often advocated during this period. Following surgery, nasal decongestants and prophylactic antibiotics are often prescribed to prevent postoperative infection.

Microstomia ("micro-" a combining form meaning small + "-stomia" a combining form meaning mouth = (abnormally) "small mouth") is a clinical feature of many craniofacial syndromes, including Freeman-Sheldon syndrome and Sheldon-Hall syndromes (or distal arthrogryposis multiplex congenita). It may present with whistling-face feature, as well, as in Freeman-Sheldon syndrome. In this syndrome, it impairs alimentation and may require repeated oral surgeries (called commissurotomy) to improve function.

It can also be a feature of systemic scleroderma.

No specific treatment or cure exists. Affected children usually need total parenteral nutrition through a central venous catheter. Further worsening of liver damage should however be avoided if possible. Diarrhea will likely continue even though food stops passing through the gastrointestinal system. They can subsequently be managed with tube feeding, and some may be weaned from nutritional support during adolescence.

Many treatments have been tried for port-wine stains including freezing, surgery, radiation, and tattooing; port-wine stains can also be covered with cosmetics.

Lasers may be able to destroy the capillaries without significant damage to the overlying skin. Lasers and other light sources may therefore be able to reduce the redness of stains, although there is not enough evidence to recommend one form over another.

For most people in trials of pulsed dye laser, more than 25% of the redness was reduced by laser after one to three treatments. Adverse effects were rare in these trials, although some people had changes to the color of the skin, especially Chinese people with darker skin. There can be pain, crusting, and blistering in the two weeks after treatment. The trials only followed people for six months, so long-term outcomes are not known. Up to 10 treatments may be necessary for improvement, but complete removal may not result.

The use of topical rapamycin as an adjunct to pulsed dye laser may improve results.

Treatment is generally given before one year of age. However, as it is recommended to be performed under anesthesia (15 minutes) on small children, it is not always possible to get frequent treatments. For example in Finland a child gets treated 2-3 times per year, resulting in a target of "being ready before school age" (7 years) "(needs citation)".

After the laser treatment the skin is filled with black marks, the size of a pen. This is due to the laser instrument's size; the black marks disappear within 1–3 weeks. The treated area can be sore and swollen for a couple of days.

In the absence of successful treatment, hypertrophy (increased tissue mass) of the stains may cause problems later in life, such as loss of function (especially if the stain is near the eye or mouth), bleeding, and increasing disfigurement. Lesions on or near the eyelid can be associated with glaucoma. If the port-wine stain is on the face or other highly visible part of the body, its presence can also cause emotional and social problems for the affected person.

It is suggested that gene therapy might be used as a cure in the future.

Infants with achondrogenesis, type 2 have short arms and legs, a small chest with short ribs, and underdeveloped lungs. Achondrogenesis, type 2 is a subtype of collagenopathy, types II and XI. This condition is also associated with a lack of bone formation (ossification) in the spine and pelvis. Typical facial features include a prominent forehead, a small chin, and, in some cases, an opening in the roof of the mouth (a cleft palate). The abdomen is enlarged, and affected infants often have a condition called hydrops fetalis in which excess fluid builds up in the body before birth. The skull bones may be soft, but they often appear normal on X-ray images. In contrast, bones in the spine (vertebrae) and pelvis do not harden.

Achondrogenesis, type 2 and hypochondrogenesis (a similar skeletal disorder) together affect 1 in 40,000 to 60,000 births. Achondrogenesis, type 2 is one of several skeletal disorders caused by mutations in the "COL2A1" gene. This gene provides instructions for making a protein that forms type II collagen. This type of collagen is found mostly in cartilage and in the clear gel that fills the eyeball (the vitreous). It is essential for the normal development of bones and other tissues that form the body's supportive framework (connective tissues). Mutations in the "COL2A1" gene interfere with the assembly of type II collagen molecules, which prevents bones and other connective tissues from developing properly.

Achondrogenesis, type 2 is considered an autosomal dominant disorder because one copy of the altered gene in each cell is sufficient to cause the condition. The disorder is not passed on to the next generation, however, because affected individuals hardly survive past puberty.

Pitt–Hopkins syndrome is a rare genetic disorder characterized by developmental delay, a wide mouth, distinctive facial features, and intermittent hyperventilation followed by apnea. It is associated with an abnormality within chromosome 18: specifically, it is caused by an insufficient expression of the TCF4 gene.

In France, Aymé, "et al." (1989) estimated the prevalence of Fryns syndrome to be 0.7 per 10,000 births based on the diagnosis of 6 cases in a series of 112,276 consecutive births (live births and perinatal deaths).

It was estimated that only about 50 cases of BOFS have been documented in the medical literature as of 2004.

Fryns syndrome is an autosomal recessive multiple congenital anomaly syndrome that is usually lethal in the neonatal period. Fryns (1987) reviewed the syndrome.

Catel–Manzke syndrome is a rare genetic disorder characterized by distinctive abnormalities of the index fingers; the classic features of Pierre Robin syndrome; occasionally with additional physical findings. "Pierre Robin syndrome" refers to a sequence of abnormalities that may occur as a distinct syndrome or as part of another underlying disorder. Pierre Robin syndrome is characterized by an unusually small jaw (micrognathia), downward displacement or retraction of the tongue (glossoptosis), and incomplete closure of the roof of the mouth (cleft palate). It is also linked to hyper mobility syndrome.

Branchio-oculo-facial syndrome (BOFS) is a disease that arises from a mutation in the TFAP2A gene. It is a rare autosomal dominant disorder that starts to affect a child's development before birth. Symptoms of this condition include skin abnormalities on the neck, deformities of the ears and eyes, and other distinctive facial features such a cleft lip along with slow growth, mental retardation and premature graying of hair.

There is no medical treatment for either syndrome but there are some recommendations that can help with prevention or early identification of some of the problems. Children with either syndrome should have their hearing tested, and adults should be aware that the hearing loss may not develop until the adult years. Yearly visits to an ophthalmologist or other eye care professional who has been informed of the diagnosis of Stickler or Marshall syndrome is important for all affected individuals. Children should have the opportunity to have myopia corrected as early as possible, and treatment for cataracts or detached retinas may be more effective with early identification. Support for the joints is especially important during sports, and some recommend that contact sports should be avoided by those who have very loose joints.

There are varying types of intervention for ankyloglossia. Horton "et al.," have a classical belief that people with ankyloglossia can compensate in their speech for limited tongue range of motion. For example, if the tip of the tongue is restricted for making sounds such as /n, t, d, l/, the tongue can compensate through dentalization; this is when the tongue tip moves forward and up. When producing /r/, elevation of the mandible can compensate for restriction of tongue movement. Also, compensations can be made for /s/ and /z/ by using the dorsum of the tongue for contact against the palatal rugae. Thus, Horton "et al." proposed compensatory strategies as a way to counteract the adverse effects of ankyloglossia and did not promote surgery. Non-surgical treatments for ankyglossia are typically performed by Orofacial Myology specialists, and involve using exercises to strengthen and improve the function of the facial muscles and thus promote proper function of the face, mouth and tongue

Intervention for ankyloglossia does sometimes include surgery in the form of frenotomy (also called a frenectomy or frenulectomy) or frenuloplasty. This relatively common dental procedure may be done with soft-tissue lasers, such as the CO laser. However, authors such as Horton "et al." are in opposition to it. According to Lalakea and Messner, surgery can be considered for patients of any age with a tight frenulum, as well as a history of speech, feeding, or mechanical/social difficulties. Adults with ankyloglossia may elect the procedure. Some of those who have done so report post-operative pain.

A viable alternative to surgery for children with ankyloglossia is to take a wait-and-see approach. Ruffoli "et al." report that the frenulum naturally recedes during the process of a child's growth between six months and six years of age;

Howel–Evans syndrome is an extremely rare condition involving thickening of the skin in the palms of the hands and the soles of the feet (hyperkeratosis). This familial disease is associated with a high lifetime risk of esophageal cancer. For this reason, it is sometimes known as tylosis with oesophageal cancer (TOC).

The condition is inherited in an autosomal dominant manner, and it has been linked to a mutation in the "RHBDF2" gene. It was first described in 1958.

Currently there are only around 26 people in the world that are known to have this rare condition. Inheritance is thought to be X-linked recessive.

Tricho-hepato-enteric syndrome is estimated to affect 1 in 300,000 to 400,000 live births in Western Europe. This syndrome was first reported in 1982 with a report on 2 siblings, and as of 2008 there were around 25 published cases in medical journals. There seem to be no racial differences in its occurrence. It might be more common, as many genetic diseases, in areas with high levels of consanguinity.

Treatment of ranulas usually involves removal of the sublingual gland. Surgery may not be required if the ranula is small and asymptomatic. Marsupialization may sometimes be used, where the intra-oral lesion is opened to the oral cavity with the aim of allowing the sublingual gland to re-establish connection with the oral cavity.

Ankyloglossia, also known as tongue-tie, is a congenital oral anomaly that may decrease mobility of the tongue tip and is caused by an unusually short, thick lingual frenulum, a membrane connecting the underside of the tongue to the floor of the mouth. Ankyloglossia varies in degree of severity from mild cases characterized by mucous membrane bands to complete ankyloglossia whereby the tongue is tethered to the floor of the mouth.