Craniofacial Syndromes, Conditions and other Facial Differences

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.

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.

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.

Blue “Rubber-Bleb” Nevus Syndrome
Venous malformations involving the skin and gastrointestinal tract characterize this syndrome. Lesions manifest at adolescence.

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 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.

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.

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.

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.

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

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.

Ectodermal Dysphasia
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 as 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.

Goldenhar Syndrome
Goldenhar is the irregularity of the jaw, cheek and ear associated with vertebral defects. There is 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.

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.

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
A 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.

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.

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).

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.

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.

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.

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

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).

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.

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.

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”.

Saethre-Chotzen Syndrome
An autosomal dominant condition causing craniosynostosis, low hairline, ptosis (drooping of the eyelids) and brachydactyly (short fingers).

Smith Magenis Syndrome
Smith Magenis Syndrome is a chromosomal disorder characterized by a recognizable pattern of physical, behavioral, 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.

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).

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, small-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.