People with visible marks generally feel fine (physically) and can act normally, but when it is mentioned, they may become withdrawn and self-conscious. Some children may have low self-esteem due to the condition.

CMTC is an uncommon, sporadic congenital vascular malformation characterized by a generalized or localized reticulated cutaneous vascular network.

Cutaneous lesions described in patients with CMTC include nevus flammeus, hemangioma, nevus anemicus, café-au-lait spots, melanocytic nevus, aplasia cutis and acral cyanosis.

It has a marbled bluish to deep-purple appearance. The dark skin lesions often show a palpable loss of dermal substance. The reticulated mottling frequently appears more prominent in a cold environment (physiologic cutis marmorata), but tends not to disappear with warming. Hence, the erythema may be worsened by cooling, physical activity, or crying.

CMTC frequently involves the extremities, with the lower extremities involved most commonly, followed by the upper extremities, and then the trunk and face. The lower extremities often show atrophy and seldom show hypertrophy resulting in limb circumference discrepancy.

When located on the trunk, the lesions of CMTC tend to show mosaic distribution in streaks with a sharp midline demarcation seen across the abdomen. The lesions are primarily localized, but can be segmental or generalized, often unilateral in appearance. Diffuse involvement of the skin is usually not observed.

Although its course is variable, the majority of lesions in mild cases fade by adolescence. Ulceration and secondary infection are complications in severe cases and can be fatal if present in the neonatal period.

Cutis marmorata telangiectatica congenita or CMTC is a rare congenital vascular disorder that usually manifests in affecting the blood vessels of the skin. The condition was first recognised and described in 1922 by Cato van Lohuizen, a Dutch pediatrician whose name was later adopted in the other common name used to describe the condition - Van Lohuizen Syndrome. CMTC is also used synonymously with congenital generalized phlebectasia, nevus vascularis reticularis, congenital phlebectasia, livedo telangiectatica, congenital livedo reticularis and Van Lohuizen syndrome.

It should not be confused with the more general term "cutis marmorata", which refers to livedo reticularis caused by cold.

Children with the Sanjad Sakati syndrome have a triad of:

a) hypoparathyroidism (with episodes of hypocalcemia, hypocalcemic tetany and hypocalcemic seizures.

b) severe mental retardation and

c) dysmorphism.

Typically, children with this syndrome are born low-birth-weight due to intrauterine growth retardation. At birth, there is dysmorphism, which is later typified into the features described below. The child is stunted, often with demonstrable growth hormone deficiency and has moderate to severe mental retardation, mainly as a consequence of repeated seizures brought on by the low blood ionic calcium levels. The immuno-reactive parathormone levels are low to undetectable, with low calcium and high phosphate levels in the blood.

"Dysmorphism" is most evident on the face, with the following features:

- Long narrow face

- Deep-set, small eyes

- Beaked nose

- Large, floppy ears

- Small head (microcephaly) and

- Thin lips with a long philtrum.

Other features include:

- Stunting

- Small hands and feet with long, tapering fingers and clinodactyly

- Dental anomalies in the form of malalignment and malocclusion

In another study of six patients, the patients were investigated further. They were found to have low levels of IGF-1 and markedly retarded bone age.

CIE has symptoms very similar to Lamellar ichthyosis (LI) but milder and is considered by many scientists to be a variant of that disease, so both diseases are grouped under the title autosomal recessive congenital ichthyosis (ARCI).

The baby is often born in a collodion membrane, a shiny, wax outer layer on the skin and usually with ectropion, having the lower eyelid turned outwards. When the membrane is shed the skin is red with a generalized white scale. Palms, soles and areas on the joints are often affected with hyperkeratosis, a thickening of the layer of dead skin cells on the surface of the skin. In classical CIE (unlike LI) there is little eclabion (eversion of the lips), ectropion and alopecia (hair loss).

Many people with ACRI don't fit neatly into the definition of LI or CIE but have characteristics of both diseases. The definitions of CIE and LI describe the extremes of the range of ACRI.

Macrocheilia is a condition of permanent swelling of the lip that results from greatly distended lymphatic spaces. This causes an abnormal largeness of the lips. This is sometimes seen in leprosy patients.

Inverse psoriasis or flexural psoriasis is a form of psoriasis that selectively and often exclusively involves the folds, recesses, and flexor surfaces such as the ears, axillae, groins, inframammary folds, navel, intergluteal crease, penis, lips, and webspaces.

Gray baby syndrome (also termed Gray or Grey syndrome) is a rare but serious side effect that occurs in newborn infants (especially premature babies) following the accumulation of antibiotic chloramphenicol.

They are divided into three types based on their location:

- commissural pits, which are small pits near the labial commissure of the mouth,

- a pit in the upper lip, in which case it may be called a midline sinus of the upper lip, and

- pits in the lower lip, in which case it may be called a congenital sinus of the lower lip.

In some cases commissural pits have been reported in combination with preauricaluar pits, which are near the ear.

In the initial phase of the disease, the mucosa feels leathery with palpable fibrotic bands. In the advanced stage the oral mucosa loses its resiliency and becomes blanched and stiff. The disease is believed to begin in the posterior part of the oral cavity and gradually spread outward.

Other features of the disease include:

- Xerostomia

- Recurrent ulceration

- Pain in the ear or deafness

- Nasal intonation of voice

- Restriction of the movement of the soft palate

- A budlike shrunken uvula

- Thinning and stiffening of the lips

- Pigmentation of the oral mucosa

- Dryness of the mouth and burning sensation

- Decreased mouth opening and tongue protrusion

Toxic levels of chloramphenicol after 2–9 days result in:

- Loss of appetite

- Vomiting

- Ashen gray color of the skin

- Hypotension (low blood pressure)

- Cyanosis (blue discolouration of lips and skin)

- Hypothermia

- Cardiovascular collapse

- Hypotonia

- Abdominal distension

- Irregular respiration

- Increased blood lactate

Fountain syndrome is an autosomal recessive congenital disorder characterized by mental retardation, deafness, skeletal abnormalities and a coarse face with full lips. The abnormal swelling of the cheeks and lips are due to the excessive accumulation of body fluids under the skin. The deafness is due to malformation of the cochlea structure within the inner ear.

Melkersson–Rosenthal syndrome (also termed "Miescher-Melkersson-Rosenthal syndrome"), is a rare neurological disorder characterized by recurring facial paralysis, swelling of the face and lips (usually the upper lip - cheilitis granulomatosis) and the development of folds and furrows in the tongue (fissured tongue). Onset is in childhood or early adolescence. After recurrent attacks (ranging from days to years in between), swelling may persist and increase, eventually becoming permanent. The lip may become hard, cracked, and fissured with a reddish-brown discoloration. The cause of Melkersson–Rosenthal syndrome is unknown, but there may be a genetic predisposition. It has been noted to be especially prevalent among certain ethnic groups in Bolivia. It can be symptomatic of Crohn's disease or sarcoidosis. Approximately 400 cases have been reported worldwide.

Nakajo syndrome, also called nodular erythema with digital changes, is a rare autosomal recessive congenital disorder first reported in 1939 by A. Nakajo in the offspring of consanguineous (blood relative) parents. The syndrome can be characterized by erythema (reddened skin), loss of body fat in the upper part of the body, and disproportionately large eyes, ears, nose, lips, and fingers.

NME features a characteristic skin eruption of red patches with irregular borders, intact and ruptured vesicles, and crust formation. It commonly affects the limbs and skin surrounding the lips, although less commonly the abdomen, perineum, thighs, buttocks, and groin may be affected. Frequently these areas may be left dry or fissured as a result. All stages of lesion development may be observed synchronously. The initial eruption may be exacerbated by pressure or trauma to the affected areas.

Rombo syndrome is a very rare genetic disorder characterized mainly by atrophoderma vermiculatum of the face, multiple milia, telangiectases, acral erythema, peripheral vasodilation with cyanosis and a propensity to develop basal cell carcinomas.

The lesions become visible in late childhood, began at ages 7 to 10 years and are most pronounced on the face, At that time a pronounced, somewhat cyanotic redness of the lips and hands was evident as well as moderate follicular atrophy of the skin on the cheeks. In adulthood, whitish-yellow, milia-like papules and telangiectatic vessels developed. The papules were present particularly on the cheeks and forehead, gradually becoming very conspicuous and dominating the clinical picture. Trichoepitheliomas were found in 1 case. In adults, the eyelashes and eyebrows were either missing or irregularly distributed with defective and maldirected growth. Basal cell carcinomas were a frequent complication. The skin atrophy was referred to as vermiculate atrophoderma. Basal cell carcinomas may develop around the age of 35. Histological observations during the early stage include irregularly distributed and atrophic hair follicles, milia, dilated dermal vessels, lack of elastin or elastin in clumps. After light irradiation a tendency to increased repair activity was observed both in epidermis and in the dermal fibroblasts.

Histologic sections showed the dermis to be almost devoid of elastin in most areas with clumping of elastic material in other areas. The disorder had been transmitted through at least 4 generations with instances of male-to-male transmission.

Congenital Ichthyosiform Erythroderma (CIE), also known as Nonbullous congenital ichthyosiform erythroderma is a rare type the ichthyosis family of skin diseases which occurs in 1 in 200,000 to 300,000 births.

Microcheilia is a congenital disorder where one's lips are unusually small.

Oral submucous fibrosis is clinically divided into three stages:

- Stage 1: Stomatitis

- Stage 2: Fibrosis

- a- Early lesions, blanching of the oral mucosa

- b- Older lesions, vertical and circular palpable fibrous bands in and around the mouth or lips, resulting in a mottled, marble-like appearance of the buccal mucosa

- Stage 3: Sequelae of oral submucous fibrosis

- a- Leukoplakia

- b- Speech and hearing deficits

Khanna and Andrade in 1995 developed a group classification system for the surgical management of trismus:

- Group I: Earliest stage without mouth opening limitations with an interincisal distance of greater than 35 mm.

- Group II: Patients with an interincisal distance of 26–35 mm.

- Group III: Moderately advanced cases with an interincisal distance of 15–26 mm. Fibrotic bands are visible at the soft palate, and pterygomandibular raphe and anterior pillars of fauces are present.

- Group IVA: Trismus is severe, with an interincisal distance of less than 15 mm and extensive fibrosis of all the oral mucosa.

- Group IVB: Disease is most advanced, with premalignant and malignant changes throughout the mucosa.

A capillary hemangioma (also known as an Infantile hemangioma, Strawberry hemangioma, and Strawberry nevus) is the most common variant of hemangioma which appears as a raised, red, lumpy area of flesh anywhere on the body, though 83% occur on the head or neck area. These marks occur in about 10% of all births, and usually appear between one and four weeks after birth. It may grow rapidly, before stopping and slowly fading. Some are gone by the age of 2, about 60% by 5 years, and 90–95% by 9 years. Capillary hemangioma is a vascular anomaly.

Capillary hemangiomas occur 5 times more often in female infants than in males, and mostly in Caucasian populations. Additionally, low birthweight infants have a 26% chance of developing a hemangioma.

It is the most common tumor of orbit and periorbital areas in childhood. It may occur in the skin, subcutaneous tissues and mucous membranes of oral cavities and lips as well as in the liver, spleen and kidneys. While this birthmark may be alarming in appearance, physicians generally counsel that it be left to disappear on its own, unless it is in the way of vision or blocking the nostrils.

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.

The histopathologic features of NME are nonspecific and include:

- epidermal necrosis

- subcorneal pustules

- confluent parakeratosis, epidermal hyperplasia, and marked papillary dermal hyperplasia in a psoriasiform pattern

- angioplasia of papillary dermis

- suppurative folliculitis

The vacuolated, pale, swollen epidermal cells and necrosis of the superficial epidermis are most characteristic. Immunofluorescence is usually negative.

Papular mucinosis is chronic and may be progressive. The dermal layer of the skin breaks out into small and solid bumps, usually conical in shape and measured from 2 to 4 mm or sometimes flat-topped papules. Unlike pustules, these bumps do not contain pus. Instead they contain mucin, a substance of mucus, the body's natural and protective lubricant found in saliva and epithelial cells in lungs and the sensitive part of the nose. They usually come in clusters such as linear arrays. Less frequently, urticarial, nodular, or sometimes annular lesions may be appreciated. The dorsal aspect of the hands, face, elbows, and extensor portions of the extremities are most frequently affected. Mucosal lesions are absent. The coalescence of papules on the face, particularly on the glabella, results in longitudinal folding and gives the appearance of a leonine facies.

In scleromyxedema, symptoms can occur on larger part of the body. Erythema and scleroderma-like induration occurs on the skin. In addition, the mobility of the lips, hands, arms, and legs is reduced. Proximal myopathy, inflammatory polyarthritis, central nervous system symptoms, esophageal aperistalsis, and hoarseness are among the notable systemic symptoms. If viscera is involved, the disease will be fatal. The dermatoneuro syndrome is a rare neurological complication of the disease presenting with fever, seizures and altered mental status.

Pallor is a pale color of the skin that can be caused by illness, emotional shock or stress, stimulant use, or anemia, and is the result of a reduced amount of oxyhaemoglobin and is visible in skin conjuctivae or mucous membrane.

Pallor is more evident on the face and palms. It can develop suddenly or gradually, depending on the cause. It is not usually clinically significant unless it is accompanied by a general pallor (pale lips, tongue, palms, mouth and other regions with mucous membranes). It is distinguished from similar presentations such as hypopigmentation (lack or loss of skin pigment) or simply a fair complexion.

The primary (baby) teeth generally start coming in by 6 months of age, and all 20 teeth may be in by two and a half years of age. The eruption timing varies greatly. There may be an incomplete formation of the enamel on the teeth (enamel hypoplasia) that makes the teeth more vulnerable to caries (cavities). There may be missing teeth eruptions. If the infant is not closing down properly, the lower jaws become more noticeably deficient (micrognathia or retrognathia). The front teeth may not touch when the child closes down because the back teeth have overerrupted or because of incomplete formation of the maxilla. This condition is called an anterior open bite and has facial/skeletal implications. The saliva may be thick, or the infant may have a dry mouth.