Conditions that can cause disfigurement include:

- severe acne

- acromegaly

- amniotic band constriction

- amputation

- argyria

- birthmarks

- burns

- cancer

- cataracts

- circumcision

- cleft lip

- eczema

- elephantiasis

- erysipelas

- gangrene

- gigantomastia

- gynecomastia

- keloids

- leprosy

- necrosis

- McCune–Albright syndrome

- neurofibromatosis

- noma

- paralysis

- proteus syndrome

- radiation poisoning

- scalping

- scars

- smallpox

- severe strabismus

- synkinesis

- Syphilis

- vitiligo

- severe warts

Plastic surgery or reconstructive surgery is available in many cases to disfigured people. Some health insurance companies and government health care systems cover plastic surgery for these problems when they do not generally cover plastic surgery for what is labeled as "cosmetic purposes".

The term "disfigurement" is sometimes used pejoratively to describe the results of intentional body modification. Scarification and other forms of such modification will sometimes be referred to as such by neutral parties or by advocates of the processes as well. Many types of body modification are subject to strong social debate as such.

Median nail dystrophy (also known as "Dystrophia unguis mediana canaliformis," "Median canaliform dystrophy of Heller," and "Solenonychia") consists of longitudinal splitting or canal formation in the midline of the nail, a split which often resembles a fir tree, occurring at the cuticle and proceeding outward as the nail grows.

Thumbs, which are the most commonly involved, usually show an enlarged lunula resulting probably from repeated pressure applied on the base of the nail.

Oligodactyly (from the Ancient Greek "oligos" meaning "few" and δάκτυλος "daktylos" meaning "finger") is the presence of fewer than five fingers or toes on a hand or foot.

It is quite often incorrectly called "hypodactyly", but the Greek prefixes and are used for scales (e.g. in hypoglycaemia and hypercholesterolemia). This as opposed to or scales, where and should be used (e.g. in oligarchy and polygamy). Oligodactyly is therefore the opposite of polydactyly. Very rare, this medical condition usually has a genetic or familial cause.

Oligodactyly is sometimes a sign or symptom of several syndromes including Poland syndrome and Weyer Ulnar Ray Syndrome. It is a type of Dysmelia.

Ectrodactyly is an extreme instance of oligodactyly, involving the absence of one or more central digits of the hand or foot and is also known as split hand/split foot malformation (SHFM). The hands and feet of people with ectrodactyly are often described as "claw-like" and may include only the thumb and one finger (usually either the little finger, ring finger, or a syndactyly of the two) with similar abnormalities of the feet.

People with oligodactyly often have full use of the remaining digits and adapt well to their condition. They are not greatly hindered in their daily activities, if at all. Even those with the most extreme forms are known to engage in tasks that require fine control, such as writing and bootmaking as well as working as a cab driver.

Vadoma people of Zimbabwe have a high frequency of oligodactyly.

Behavior therapy is important especially when the kids are in their primary dentition in the pre-adolescent age. Improving habits at this time may lead to self-correction of open bite in many cases. Sometimes presence of infantile swallowing into early childhood may lead to an anterior open bite in patients. Habit control through appliances such as Tongue crib or Tongue spurs may be used in adolescent ages if the behavior modification fails to stop the habit.

An anterior open bite occurs in humans when the front teeth fail to touch and there is no overlap between upper incisors and lower incisors. Anterior open can be caused by functional habits such as digit sucking, tongue thrust or long-term pacifier use. When digit sucking habit is present in the late primary to early mixed dentition stages, it can lead to different side-effects such as upper teeth flaring out, lower teeth flaring in, increase in the open bite and the overjet. A posterior crossbite in these children along with decrease in intercanine and intermolar width is also found. The more intense (longer) the habit, the worse the malocclusion may be.

Pacifier use has also shown to cause anterior open bites in children. Pacifier use which lasts longer than 18 months, may cause this malocclusion. It is shown that as long as the sucking habit stops before the eruption of permanent teeth, the open bite self-corrects. In some cases, behavior modification may be necessary to eliminate the dental habits. If all else fails, then a tongue crib can be used.

Amelogenesis imperfecta hypomaturation type with taurodontism are often confused. Amelogenesis imperfecta of the hypomaturation type with taurodontism (AIHHT) has no hair or bone changes which helps to differentiate between TDO cases and AIHHT. Polymerase chain reaction also known as PCR is used to amply pieces of DNA and observed for the 141 base pair allele as a result of a deletion of four nucleotides in exon 3 of the DLX-3 gene. Additionally, the current research shows that there is heavy reliance on the physical characteristics in the differentiation of TDO verses AIHHT and the severity and prevalence of their expression. For instance, taurodontism is severely expressed in TDO, but mildly expressed in AIHHT. Currently, researchers are trying to identify the reason for the alteration in the DLX-3 and DLX-7 genes that are responsible for AIHHT versus TDO.

A large number of human gene defects can cause ectrodactyly. The most common mode of inheritance is autosomal dominant with reduced penetrance, while autosomal recessive and X-linked forms occur more rarely. Ectrodactyly can also be caused by a duplication on 10q24. Detailed studies of a number of mouse models for ectrodactyly have also revealed that a failure to maintain median apical ectodermal ridge (AER) signalling can be the main pathogenic mechanism in triggering this abnormality.

A number of factors make the identification of the genetic defects underlying human ectrodactyly a complicated process: the limited number of families linked to each split hand/foot malformation (SHFM) locus, the large number of morphogens involved in limb development, the complex interactions between these morphogens, the involvement of modifier genes, and the presumed involvement of multiple gene or long-range regulatory elements in some cases of ectrodactyly. In the clinical setting these genetic characteristics can become problematic and making predictions of carrier status and severity of the disease impossible to predict.

In 2011, a novel mutation in DLX5 was found to be involved in SHFM.

Ectrodactyly is frequently seen with other congenital anomalies. Syndromes in which ectrodactyly is associated with other abnormalities can occur when two or more genes are affected by a chromosomal rearrangement. Disorders associated with ectrodactyly include Ectrodactyly-Ectodermal Dysplasia-Clefting (EEC) syndrome, which is closely correlated to the ADULT syndrome and Limb-mammary (LMS) syndrome, Ectrodactyly-Cleft Palate (ECP) syndrome, Ectrodactyly-Ectodermal Dysplasia-Macular Dystrophy syndrome, Ectrodactyly-Fibular Aplasia/Hypoplasia (EFA) syndrome, and Ectrodactyly-Polydactyly. More than 50 syndromes and associations involving ectrodactyly are distinguished in the London Dysmorphology Database.

Ectrodactyly can be caused by various changes to 7q. When 7q is altered by a deletion or a translocation ectrodactyly can sometimes be associated with hearing loss. Ectrodactyly, or Split hand/split foot malformation (SHFM) type 1 is the only form of split hand/ malformation associated with sensorineural hearing loss.

Occurring at a rate between 1 in 10,000 to 1 in 50,000 with a male-to-female ratio of 2.3-6:1, bladder exstrophy is relatively rare. For those individuals with bladder exstrophy who maintain their ability to reproduce, the risk of bladder exstrophy in their children is approximately 500-fold greater than the general population.

Disfigurement, whether caused by a benign or malignant condition, often leads to severe psychosocial problems such as negative body image; depression; difficulties in one's social, sexual, and professional lives; prejudice; and intolerance. This is partly due to how the individual copes with looking 'visibly different', though the extent of the disfigurement rarely correlates with the degree of distress the sufferer feels. An additional factor which affects sufferers of a disfigurement is the reaction they get from other people. Studies have shown that the general population respond to people with a disfigurement with less trust, less respect and often try to avoid making contact or having to look at the disfigurement. Disfigurements affecting visible areas such as the face, arms and hands are thought to present greater difficulty for sufferers to cope with than do other disfigurements.

Deliberate mutilation resulting in physical disfigurement has also been practiced by many cultures throughout human history for religious or judicial purposes. During the Byzantine Empire, the emperor was considered God's on Earth, and as such the physical wholeness of his person was an essential complement to the perfection of Heaven. For this reason, many deposed emperors were blinded, had their noses cut off, or their tongue split by their successors, as these permanent disfigurements disqualified them from ever reclaiming the throne.

A case of voluntary disfigurement is that of St. Æbbe the Younger and the nuns of Coldingham Monastery in Scotland. When the monastery was attacked by Vikings and they feared being raped, she and the nuns cut off their own noses and upper lips. In revenge, the Vikings burned down the building with the nuns inside. This is said to be the origin of the phrase "cutting off the nose to spite the face".

Tricho-dento-osseous syndrome (TDO) is a rare, systemic, autosomal dominant genetic disorder that causes defects in hair, teeth, and bones respectively. This disease is present at birth. TDO has been shown to occur in areas of close geographic proximity and within families; most recent documented cases are in Virginia, Tennessee, and North Carolina. The cause of this disease is a mutation in the DLX3 (distal-less 3) gene, which controls hair follicle differentiation and induction of bone formation. One-hundred percent of patients with TDO suffer from two co-existing conditions called enamel hypoplasia and taurodontism in which the abnormal growth patterns of the teeth result in severe external and internal defects. The hair defects are characterized as being rough, course, with profuse shedding. Hair is curly and kinky at infancy but later straightens. Dental defects are characterized by dark-yellow/brownish colored teeth, thin and/or possibly pitted enamel, that is malformed. The teeth can also look normal in color, but also have a physical impression of extreme fragility and thinness in appearance. Additionally, severe underbites where the top and bottom teeth fail to correctly align may be present; it is common for the affected individual to have a larger, more pronounced lower jaw and longer bones. The physical deformities that TDO causes become more noticeable with age, and emotional support for the family as well as the affected individual is frequently recommended. Adequate treatment for TDO is a team based approach, mostly involving physical therapists, dentists, and oromaxillofacial surgeons. Genetic counseling is also recommended.

Haemorrhoids (piles) are swollen veins at or inside the anal area, resulting from impaired venous return, straining associated with constipation, or increased intra-abdominal pressure in later pregnancy. They are more common in pregnant than non-pregnant women. It is reported by 16% of women at 6 months postpartum. Most pregnant women in countries where the diet is not heavily fiber-based may develop hemorrhoids, although they will usually be asymptomatic. Hemorrhoids can cause bleeding, itching, soiling or pain, and they can become strangulated. Symptoms may resolve spontaneously after pregnancy, although hemorrhoids are also common in the days after childbirth. Conservative treatments for hemorrhoids in pregnancy include dietary modification, local treatments, bowel stimulants or depressants, or phlebotonics (to strengthen capillaries and improve microcirculation). Treatment with oral hydroxyethylrutosides may help improve first and second degree hemorrhoids, but more information on safety in pregnancy is needed. Other treatments and approaches have not been evaluated in pregnant women.

Pica is a craving for nonedible items such as dirt or clay. It is caused by iron deficiency which is normal during pregnancy and can be overcome with iron in prenatal vitamins or, if severe, parenteral iron

Supernumerary body parts are most commonly a congenital disorder involving the growth of an additional part of the body and a deviation from the body plan. Body parts may be easily visible or hidden away, such as internal organs.

Many additional body parts form by the same process as conjoined twins: the zygote begins to split but fails to completely separate. This condition may also be a symptom of repeated occurrences of continuous inbreeding in a genetic line.

Burn scar contractures do not go away on their own, although may improve with the passage of time, with occupationaltherapy and physiotherapy, and with splinting. If persistent the person may need the contracture to be surgically released. Techniques may include local skin flaps (z-plasty) or skin grafting (full thickness or split thickness). There are also pharmacy and drug-store treatments that can be used to help scar maturation, especially silicone gel treatments. Prevention of contracture formation is key. For instance, in the case of a burned hand one would splint the hand and wrap each finger individually. In the instance of burns on the neck, hyperextension of the neck (i.e. no use of pillows) should be maintained during the healing process. Carbon dioxide laser therapy is now also used to aid in the loosening of surrounding skin, although is yet to form as part of an official global rehabilitation program.

Chimney sweep's cancer, also called soot wart, is a squamous cell carcinoma of the skin of the scrotum. It has the distinction of being the first reported form of occupational cancer, and was initially identified by Percivall Pott in 1775. It was initially noticed as being prevalent amongst chimney sweeps.

Avoid aggressive brushing and grooming, strong chemicals, permanents, straightening, and similar hair-damaging habits.

Chimney sweeps' carcinoma is a squamous cell carcinoma of the skin of the scrotum. Warts caused by the irritation from soot particles, if not excised, developed into a scrotal cancer. This then invaded the dartos, enlarged the testicle, and proceeded up the spermatic cord into the abdomen where it proved fatal.

Ectrodactyly–ectodermal dysplasia–cleft syndrome, or EEC, and also referred to as EEC syndrome (also known as "Split hand–split foot–ectodermal dysplasia–cleft syndrome") is a rare form of ectodermal dysplasia, an autosomal dominant disorder inherited as an genetic trait. EEC is characterized by the triad of ectrodactyly, ectodermal dysplasia, and facial clefts. Other features noted in association with EEC include vesicoureteral reflux, recurrent urinary tract infections, obstruction of the nasolacrimal duct, decreased pigmentation of the hair and skin, missing or abnormal teeth, enamel hypoplasia, absent punctae in the lower eyelids, photophobia, occasional cognitive impairment and kidney anomalies, and conductive hearing loss.

Trichorrhexis may have a genetic basis but appears to be precipitated by environmental factors. Among Caucasians the defect often appears at the ends of the hair shaft with splitting of the ends, thinning and whitish discoloration.

These conditions are directly related to environmental causes such as "perming", blow drying, aggressive hair brushing, and excessive chemical exposure.

In some cases, trichorrhexis nodosa may be caused by an underlying disorder such as argininosuccinic aciduria, Menkes' kinky hair syndrome, Netherton's syndrome, hypothyroidism, or trichothiodystrophy.

Fibrochondrogenesis is a rare autosomal recessive form of osteochondrodysplasia, causing abnormal fibrous development of cartilage and related tissues.

It is a lethal rhizomelic (malformations which result in short, underdeveloped limbs) form of dwarfism, exhibiting both skeletal dysplasia (malformations of bone) and fibroblastic dysplasia (abnormal development of fibroblasts, specialized cells that make up fibrous connective tissue, which plays a role in the formation of cellular structure and promotes healing of damaged tissues). Death caused by complications of fibrochondrogenesis occurs in infancy.

Fibrochondrogenesis is quite rare. A 1996 study from Spain determined a national minimal prevalence for the disorder at 8 cases out of 1,158,067 live births.

A United Arab Emirates (UAE) University report, from early 2003, evaluated the results of a 5-year study on the occurrence of a broad range of osteochondrodysplasias. Out of 38,048 newborns in Al Ain, over the course of the study period, fibrochondrogenesis was found to be the most common of the recessive forms of osteochondrodysplasia, with a prevalence ratio of 1.05:10,000 births.

While these results represented the most common occurrence within the group studied, they do not dispute the rarity of fibrochondrogenesis. The study also included the high rate of consanguinous marriages as a prevailing factor for these disorders, as well as the extremely low rate of diagnosis-related pregnancy terminations throughout the region.

Trachyonychia, sometimes called sandpapered nails, is a condition characterized by rough accentuated linear ridges (longitudinal striations) on the nails of the fingers and toes. When the condition occurs on all the twenty nails of the fingers and toes, it is known as twenty-nail dystrophy, most evident in childhood, favoring males.

Trachyonychia causes the nails to become opalescent, thin, dull, fragile, and finely longitudinally ridged, and, as a result, distally notched. It can be a manifestation of lichen planus, psoriasis, alopecia areata, immunoglobulin A deficiency, atopic dermatitis, and ichthyosis vulgaris.

"The longitudinal striations can occur as a normal part of the aging process", and not until the nails start to thin and get a sandpaper look is the condition called trachonychia. The nails are opalescent and frequently are brittle and split at the free margin. There has been evidence of the condition as a cutaneous manifestation of lichen planus. It has also been associated with other diseases such as eczema, psoriasis, alopecia areata, and atopic dermatitis. Trachonychia is often seen in vitiligo patients – suggesting that they are more susceptible to this condition.

Burn scar contracture refers to the tightening of the skin after a second or third degree burn. When skin is burned, the surrounding skin begins to pull together, resulting in a contracture. It needs to be treated as soon as possible because the scar can result in restriction of movement around the injured area.

Modeling EEC syndrome in vitro has been achieved by reprogramming EEC fibroblasts carrying mutations R304W and R204W into induced pluripotent stem cell (iPSC) lines. EEC-iPSC recapitulated defective epidermal and corneal fates. This model further identified PRIMA-1MET, a small compound that was identified as a compound targeting and reactivating p53 mutants based on a cell-based screening for rescuing the apoptotic activity of p53, as efficient to rescue R304W mutation defect. Of interest, similar effect had been observed on keratinocytes derived from the same patients. PRIMA-1MET could become an effective therapeutic tool for EEC patients.

Further genetic research is necessary to identify and rule out other possible loci contributing to EEC syndrome, though it seems certain that disruption of the p63 gene is involved to some extent. In addition, genetic research with an emphasis on genetic syndrome differentiation should prove to be very useful in distinguishing between syndromes that present with very similar clinical findings. There is much debate in current literature regarding clinical markers for syndromic diagnoses. Genetic findings could have great implications in clinical diagnosis and treatment of not only EEC, but also many other related syndromes.