Facial Differences

A

Acne

Acne can affect people from ages 10 through 40 years and up. Acne can show up as any of the following; congested pores, whiteheads, blackheads, pimples, pustules or cysts (deep pimples). These blemishes occur wherever there are many oil (sebaceous) glands, mainly on the face, chest and back.

Acquired Facial Difference

Possibly the broadest and most difficult to categorize on this page. When we say ‘acquired’ we mean a facial difference you weren’t born with, something that could be the result of a disease or an accident. However it was acquired, we know it was likely to be very traumatic and sometimes especially hard to deal with, because there was the ‘you’ before the difference and the ‘you’ after. For us, there is no sliding scale of severity, if it affects you, AboutFace is here to help. Full stop.

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Alopecia

Alopecia is the loss or the absence of hair. Alopecia areata is an autoimmune disease, which can also involve hair all over the body. In simple terms, the immune system, for unknown reasons, attacks the hair root and causes hair loss.

Anophthalmia

Refers to the absence of the globe and eye tissue from the orbit.

Apert Syndrome

Apert Syndrome is an inherited condition characterized by a high short skull, underdevelopment of the mid-face, fusion of fingers and toes, both soft tissue and bone ("mitten glove"), fusion of the neck vertebrae. This syndrome is similar to Crouzon Syndrome but includes additional anomalies.

Arrhinia

Arrhinia, (also called nasal agenesis) is the congenital partial or complete absence of the nose at birth. It is an extremely rare condition, with few reported cases in the history of modern medicine.

B

Basal Cell Nevus Syndrome


See Gorlin Syndrome.

Bell’s Palsy

Bell’s Palsy is a form of facial paralysis resulting from damage to the 7th cranial nerve (facial nerve), causing paralysis of one side of the face. Other features may include pain, tearing, drooling, hypersensitivity to sound in the affected ear, and impairment of taste. Paralysis or weakness may resolve completely, partially, or become permanent. The cause is not known.

Binder’s Syndrome

Binder's Syndrome/Binder Syndrome (Maxillo-Nasal Dysplasia) is a developmental disorder primarily affecting the anterior part of the maxilla and nasal complex (nose and jaw). It is a rare disorder and the causes are unclear. Hereditary and vitamin D deficiency during embryonic growth have been researched as possible causes.The characteristics of the syndrome are typically visible. The syndrome involves hypoplasia of variable severity of cartilaginous nasal septum and premaxilla. It includes complete total absence of the anterior nasal spine.

Blue “Rubber-Bleb” Nevus Syndrome

Venous malformations involving the skin and gastrointestinal tract characterize this syndrome. Lesions manifest at adolescence.

C

Carpenter Syndrome

An autosomal recessive condition with craniosynostosis, syndactyly (fused digits) of the feet, and short hands and fingers with syndactyly of varying degrees.

Cherubisum

A rare autosomal dominant condition of the mandible and maxilla. It causes round cheeks and jaws with slight upward turning of the eyes, giving a facial appearance reminiscent of the angelic cherubs.

Cleft Lip

Cleft lip is one of the most common physical birth defects and is characterized by a vertical split (cleft) in the upper lip. Cleft lip can be on one side only (unilateral) or on both sides (bilateral), resulting from failure of the normal process of fusion of the lip to come to completion during embryonic life.

Cleft Lip and Palate

Characterized by both a cleft lip and palate. A cleft lip, cleft palate can be either a unilateral cleft, which means it affects only one side; or a bilateral, which means it affects two sides.

Cleft Palate

An opening in the roof of the mouth (the palate) due to a failure of the palatal shelves to come fully together from either side of the mouth and fuse normally.

Craniosynostosis

Premature fusion of the cranial sutures (the fibrous joints between the bones of the skull) in an infant, preventing normal growth of the baby's head. A common deformity that is subdivided into ‘scaphocephaly’ (boat-shaped), ‘trigonocephaly’ (triangular), ‘brachycephaly’ (short), ‘plagiocephaly’ (asymmetric), ‘oxycephaly’ (most severe asymmetry), and ‘turricephaly’ (tower head). Complex premature suture fusion is associated with Apert, Crouzon, Kleeblattschädel, Pfeiffer, Saethre-Chotzen and Carpenter syndromes. The cause of the premature fusion remains unknown.

Crouzon Syndrome

An inherited condition causing malformation and abnormal development of the skull, with bulging eyes (exorbitism, exopthalmus), underbite (malocclusion), with the risk of developmental delays from increased intracranial pressure. Treatment is surgical correction of the skull abnormalities, and ophthalmologic assessment of eye function.

D

De Lange Syndrome

A relatively common syndrome with multiple congenital birth defects and developmental delays of unknown origin that is recognized by the presence of: abnormally small head (microcephaly); Hair low on the nape of the neck; Low-set ears; Hair well down onto the forehead; Bushy eyebrows; Eyebrows that meet in the middle (synophrys); Unusually long eyelashes; Depressed bridge of the nose; Up tilted tip of the nose; Forward-directed nostrils; Protuberance of the upper jaw (maxillary prognathism); "Carp-shaped" mouth; and small, widely spaced teeth.

Dermatitis

Dermatitis or eczema is inflammation of the skin. It is characterized by itchy, erythematous, vesicular, weeping, and crusting patches. The term eczema is also commonly used to describe atopic dermatitis or atopic eczema. The term eczema is broadly applied to a range of persistent skin conditions. These include dryness and recurring skin rashes that are characterized by one or more of these symptoms: redness, skin swelling, itching and dryness, crusting, flaking, blistering, cracking, oozing, or bleeding. Areas of temporary skin discoloration may appear and are sometimes due to healed injuries. Scratching open a healing lesion may result in scarring and may enlarge the rash.

Down Syndrome

A genetic disorder characterized by craniofacial deformities and varying degrees ofdevelopmental delays. Results from an extra chromosome 21 (‘trisomy #21’).

E

Ectodermal Dysplasia

ED is not a single disorder, but a group of closely related conditions that are heritable. Each ED syndrome has a different combination of features and each has its own name. An ED syndrome must have two or more ectodermal structures such as the hair (tends to be very thin and sparse), teeth (absent, pointed or conical), nails, sweat glands (little or no sweating), cranial-facial structure, the eyes, digits and other parts of the body.

Encephalocele

Encephalocele, sometimes known by the Latin name cranium bifidum, is a neural tube defect characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull. These defects are caused by failure of the neural tube to close completely during fetal development. Encephaloceles cause a groove down the middle of the skull, or between the forehead and nose, or on the back side of the skull. The severity of encephalocele varies, depending on its location.

Epidermolysis Bullosa

A rare genetic disease characterized by the presence of extremely fragile skin and recurrent blister formation, resulting from minor mechanical friction or trauma. This condition is not contagious.

F

Fibrous Dysplasia

Fibrous Dysplasia is a condition of the skeleton (bones). It is a birth defect that is a non-cancerous disease. It is not hereditary so your child did not get it from you nor will he/she pass it along to his/her children. Fibrous Dysplasia gets progressively worse from birth until the bones finish growing. As it progresses, normal bone is replaced by various amounts of structurally weak fibrous and osseous (bone-like) tissue.

Frontonasal Dysplasia

Frontonasal dysplasia is a rare anomaly with distinct nasal deformities. Its basic characteristics include hypertelorism, bifid nasal tip, or complete midline splitting of the nose. Other features can include median cleft palate and anterior encephalocele.

G

Goldenhar Syndrome

Goldenhar is the irregularity of the jaw, cheek and ear associated with vertebral defects. This syndrome includes the following symptoms: deformity of the external ear, abnormal smallness of that half of the face, cleft of the upper eyelid is frequent. The ear deformities range from tags in front of the ear, to atresia (closure) of the external auditory canal, abnormalities in the size and shape of the ear, and even anotia (absence of the ear).

Gorlin Syndrome (Basil Cell Carsonoma Nevus Syndrome)

An autosomal dominant disorder also known as Nevoid Basal Cell Carcinoma Syndrome, Gorlin-Goltz Syndrome, and Basal Cell Nevus Syndrome. Patients with the syndrome are predisposed to cancer, especially multiple Basal Cell Carcinomas, and congenital malformations. Diagnosis is primarily made by identifying two major features; Jaw Cysts (odontogenetic keratocysts), multiple basal cell carcinomas (at an early age), palmar pits, and a family history of the syndrome.

H

Hemangioma

A birth irregularity where a localized tissue mass grows rich in small blood vessels. Capillary hemangiomas are composed nearly entirely of tiny capillary vessels. Cavernous hemangiomas are composed of blood- filled "lakes" and channels. 
A hemangioma may be visible through the skin as a birthmark, known colloquially as a "strawberry mark." Most hemangiomas that occur at birth disappear after a few months or years.

Hemifacial / Craniofacial Microsomia

A congenital syndrome with underdevelopment of the face on one side. Features include low-set ears, short jaw, small chin (micrognathia), chin deviation, occlusal cant (bite angled up or down), and anterior open bite. Associated abnormalities may include ear malformations, cranial nerve disorders, cleft palate or kidney maldevelopment.

Holoprosencephaly

A relatively common birth defect of the brain, which often also affects facial features, causing closely spaced eyes, small head size, and sometimes clefts of the lip and roof of the mouth. Not all individuals with holoprosencephaly (HPE) are affected to the same degree, even in families where more than one individual has this predisposition.

Hydrocephalus

A condition characterized by abnormal accumulation of fluid in the cranial cavity accompanied by enlargement of the head, prominence of the forehead, a shrinkage of the brain, mental deterioration and convulsions.

Hypertelorism / Greig Syndrome

Abnormally increased distance between two organs or parts – usually applied to the eyes. The skull may be flat, nose abnormally wide or even bifid (split in two).

Hypoplasia

Underdevelopment or incomplete development of a tissue or organ. For example, there can be hypoplasia (underdevelopment) of the enamel of the teeth. Hypoplasia is less drastic than aplasia where there is no development at all.

Hypotelorism

An extremely rare condition that is usually not compatible with life. In the most severe cases, the infant looks like a cyclops.

K

Kleeblattschädel Syndrome (Clover Leaf)


A rare type of craniosynostosis resulting in a clover leaf-shaped skull.

Klippel-Feil Syndrome

A syndrome of a short neck, restriction of neck movement (especially rotation), and a low occipital hairline. Associated features are webbing of the neck, scoliosis (curvature of the spine), torticollis (tilted head), and, occasionally, Sprengel deformity, which is displacement of one or both scapulae. In some cases, patients have developmental delays, problems with eye movement, hearing loss, and urinary anomalies.

Klippel-Trenaunay-Weber syndrome

The syndrome is associated with vascular malformations and limb hypertrophy. Vascular abnormalities lead to muscle hypertrophy and thickening of the skin, subcutaneous tissues and bone. Although port-wine stains commonly occur cutaneously, venous and lymphatic malformations are common in the limbs. Most often, they affect a single lower extremity.

L

Long Face Syndrome / Vertical Maxillary Excess

A dentofacial skeletal anomaly resulting in a gummy smile, dental crowding, pouted or incompetent outer lip and retruded chin. Treatment includes orthodontics and Le Fort osteotomy and upper jaw impaction procedures to improve appearance and function.

Lymphangioma

Lymphangioma is a malformation of the lymphatic system, which is the network of circulation vessels responsible for returning to the venous system excess fluid from tissues. Lymphangioma malformation can occur at any age; it can be either congenital or acquired; and may involve any part of the body, but 90% occur in children less than 2 years of age and involve the head and neck.

M

Maffucci Syndrome

A syndrome characterized by vascular malformations and multiple enchondromas (bone tumors). Symptoms occur by puberty. No sex predilection exists. Twenty percent of patients develop chondrosarcomas (malignant cartilage tumors).

Microcephaly

An abnormally small head, which may stop the normal growth and development of the baby's brain and may result in developmental delay and developmental delays.

Microtia

An abnormally small ear. The term "microtia" usually refers to a congenitally small external ear. The visible part of the ear is abnormally small but it is not entirely absent. Absence of the ear is called "anotia." These conditions may be involved with other syndromes such as Treacher-Collins or hemifacial microsomia.

Miller Syndrome

Miller Syndrome is very rare condition characterized by downward slanting eyelids, cleft palate, recessed lower jaw, small cup shaped ears, and a broad nasal ridge. Anomalies include shortened and bowed forearms, incompletely developed ulna and radius bones in the arms, missing or webbed fingers and toes, and abnormal growth of the tibia and fibula bones in the lower legs. Occasional anomalies include heart defects, lung disease from chronic infection, extra nipples, stomach or kidney reflux, undescended testicles in males, dislocated hips, and difficult vein access.

Moebius Syndrome

Moebius Syndrome is identifiable at birth by a mask-like expression most apparent during crying or laughing due to paralysis (palsy) of the sixth and seventh cranial nerves. These nerves control eye movements and facial expressions. Facial nerve development is absent or diminished causing abnormalities of the facial muscles and jaw. The sixth and seventh cranial nerves are most often affected.

Myhre Syndrome

Myhre syndrome is a condition with features affecting many systems and functions of the body. People with Myhre syndrome usually have delayed development of language and motor skills such as crawling and walking. Most have intellectual disability that ranges from mild to moderate. Some have behavioral issues such as features of autism or related developmental disorders affecting communication and social interaction. People with Myhre syndrome often have hearing loss, which can be caused by changes in the inner ear (sensorineural deafness), changes in the middle ear (conductive hearing loss), or both (mixed hearing loss).

N

Nager Syndrome

Nager Syndrome is a condition in which the facial characteristics include downward slanting eyelids, absence or underdeveloped cheekbones, a severely underdeveloped lower jaw, malformed outer and middle ears, clefting of the hard or soft palates, absence of lower eyelashes and scalp hair extending on the cheek. Upper limb defects include underdeveloped or missing thumbs and occasional absence of the radial limb.

Neurofibromatosis

A genetic disorder of the nervous system that primarily affects the development and growth of neural (nerve) cell tissues, causes tumors to grow on nerves, and may produce other abnormalities.

Neurofibromatosis Type 1 (NF1)

A genetic disorder characterized by a number of remarkable skin findings including multiple café au lait (coffee with milk) spots, multiple benign tumors called neurofibromas on the skin, plexiform neurofibromas (thick and misshapen nerves due to the abnormal growth of cells and tissues that cover the nerve), and freckles in the armpit and groin. The café au lait spots increase in number and size with age.

Neurofibromatosis Type 2 (NF2)

A genetic disorder characterized by the growth of benign tumors of the nerves to the ears. These tumors are called acoustic neuromas or, more precisely, they cause tinnitus (ringing in the ears), hearing loss, and problems with balance.

Nevoid Basal Cell Carcinoma

See Gorlin Syndrome.

Nevus

A common skin growth, or ‘mole’, composed of special pigment-producing cells called nevomelanocytes. Nevomelanocytes are related to pigment-producing cells normally found in the skin, called melanocytes. A congenital nevus is a mole present at birth. A congenital giant hairy nevus may be 20 cm in diameter or larger – these lesions carry a risk of transformation to cancer later in life and are usually surgically removed

Noonan Syndrome

A multifaceted genetic disorder characterized by a series of birth defects including malformed facial features, short stature after birth, webbing of the neck, caved-in chest bone, cardiovascular problems.

O

Osler-Weber-Rendu Disease

Osler-Weber-Rendu disease involves multiple hereditary telangiectasias, which may involve the gastrointestinal tract.

P

Pfeiffer Syndrome

A syndrome of craniosynostosis (premature fusion of the cranial sutures), which is characterized by bulging eyes due to shallow eye sockets, underdevelopment of the mid-face, and broad short thumbs and big toes. There are three types of Pfeiffer syndrome.

Pfeiffer Syndrome Type 1

Intellect is usually normal. There is moderate to severe underdevelopment of the mid-face, broad and inwardly deviated thumbs and big toes with variable degree of shortening of the digits. Hydrocephalus and hearing loss may also occur.

Pfeiffer Syndrome Type 2

Developmental delay is common. There is a cloverleaf skull and extreme bulging of the eyes. The thumbs, big toes and other digits are as in Type 1 but there is also fusion of the elbows and knees. Other problems may include narrowing or closure of the nasal passages, laryngeal and tracheal malformations, hydrocephalus and seizures.

Pfeiffer Syndrome Type 3

There is a tall short skull (turribrachycephaly). All other features are as in Type 2.

Pierre Robin Syndrome / Sequence

A developmental anomaly of the palate and jaw characterized by a combination of three features, possibly due to the underdevelopment of the lower jaw: (1) the lower jaw is abnormally small, (2) the tongue is displaced downwards, and (3) cleft palate. The tongue might have a tendency to ball up in the back of the mouth, causing the airway to block and possible apnea (stopping breathing temporarily).

Port Wine Stain

A mark on the skin that resembles port wine (porto) in its rich ruby red color. Due to an abnormal aggregation of capillaries, a port wine stain is a type of hemangioma. A port wine stain on the face is a sign of the Sturge-Weber syndrome.

Positional Plagiocephaly

A reversible deformation of the skull in a parallelogram shape due to the baby lying with its head to one side. The treatment is conservative and involves regular reposition of the head and occasionally helmet therapy. This condition has become much more common since the recommendation that babies lie on their backs in their cribs to avoid ‘SIDS’ (sudden infant death syndrome).

Proteus Syndrome

A disturbance of cell growth including benign tumors under the skin, overgrowth of the body, often more on one side than the other, and overgrowth of fingers. The syndrome is named after the Greek god Proteus the polymorphous who could change his appearance. The "elephant man" (John Merrick) of 19th century England who was thought to have had neurofibromatosis probably had Proteus syndrome.

Psoriasis

Psoriasis, meaning "itching condition" or "being itchy", is a common, chronic relapsing/remitting immune-mediated skin disease characterized by red, scaly patches, papules, and plaques, which usually itch. The skin lesions seen in psoriasis may vary in severity from minor localized patches to complete body coverage. The disease affects 2–4% of the general population.

R

Romberg Disease / Hemifacial Atrophy

A sporadic condition involving progressive atrophy (wasting) of skin, subcutaneous fat, muscle, and bone of the face.

Rosacea

Rosacea is a skin condition that affects the middle third of the face, causing persistent redness over the areas of the face and nose that normally blush - mainly the forehead, the chin and the lower half of the nose. The tiny blood vessels in these areas enlarge and become more visible through the skin, appearing like tiny red lines. This condition in adults is also known as “adult acne”.

S

Saethre-Chotzen Syndrome

Saethre-Chotzen syndrome is a condition in which more than one suture is fused prematurely causing irregular head growth. Eyelids are droopy while eyes are widespread and appear bulging and may be crossed. The upper jaw may be underdeveloped. The nose may appear "beaked" and the septum may be deviated; that is, the area between the nostrils is off center. Fingers are short and certain fingers may be fused. There may be a low hairline.

Seborrhoeic dermatitis

Seborrhoeic dermatitis (also seborrhea, sebopsoriasis, seborrheic eczema, dandruff, and pityriasis capitis) is a chronic, relapsing and usually mild dermatitis. In infants seborrheic dermatitis is called cradle cap. Seborrheic dermatitis is an inflammatory skin disorder affecting the scalp, face, and torso. Typically, seborrheic dermatitis presents with scaly, flaky, itchy, and red skin. It particularly affects the sebaceous-gland-rich areas of skin. In adolescents and adults, seborrhoeic dermatitis usually presents as scalp scaling similar to dandruff or as mild to marked erythema of the nasolabial fold.

Smith Magenis Syndrome

Smith Magenis Syndrome is a chromosomal disorder characterized by a recognizable pattern of physical, behavioural and developmental features. Common features include: characteristic, yet subtle, facial appearance, infant feeding problems, low muscle tone, developmental delay, variable levels of mental retardation, early speech/language delay, middle ear problems, skeletal anomalies and decreased sensitivity to pain.

Sturge-Weber syndrome

A congenital, but not inherited, disorder that affects the skin, the neurological system, and sometimes the eyes and internal organs. Sturge-Weber syndrome is a port-wine stain or capillary malformation in the distribution of the ophthalmic and maxillary divisions of the trigeminal nerve of the face. This vascular malformation may be associated with many other symptoms, such as Jacksonian seizures, developmental delays, calcification of the leptomeninges, glaucoma, and contralateral hemiplegia (weakness on the other side of the body).

Syndactytly

Fusion of the fingers or toes (actually failure to separate during development). May be simple (skin only) or complex (involving bone, blood vessels, tendons and nerves). Treatment is conservative, or surgical separation if needed to improve function.

T

Treacher-Collins Syndrome / Mandibulofacial Craniosynostosis

A genetic disorder consisting usually of abnormal ears, downward slope of the eye due to missing cheek bone, and small lower jaw. Patients have maldevelopment of the zygomas (cheekbones) and mandible (jaw) with ear defects or an absence and displacement of the sideburns. The eye area can be significantly involved, with a downward (antimongoloid) slant of the fissures and an absence of eyelashes. The face is fishlike, and patients may have deafness and developmental delays.

Tumor

A swelling or a new growth of tissue in which the multiplication of cells is uncontrolled and progressive. Tumors may be benign or malignant (cancerous).

V

Van der Woude Syndrome

A genetic disorder characterized by pits of the lower lip and by cleft lip and/or cleft palate. It is the most common known cleft syndrome.

Velocardiofacial Syndrome

A congenital malformation syndrome characterized by cleft palate, heart defects, abnormal facial structure and learning problems. Less frequent features include short stature, smaller-than-normal head, developmental delays, minor ear anomalies, slender hands and digits, and inguinal hernia. Also known as Shprintzen syndrome.

Von Hippel-Lindau disease

A congenital disorder characterized by capillary hamartomas (benign tumors of normal cells) involving multiple organs. The retina and optic nerve are involved most commonly.


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