Craniofacial Differences

Amniotic Band Syndrome

A disorder present in the newborn infant in which constriction rings or bands, causing soft tissue depressions, encircle digits, extremities, or limbs and sometimes the neck, thorax, or abdomen. They may be associated with intrauterine amputations. (Gray Laboratory Cancer Research Trust, 1999)

Apert Syndrome

A condition of facial difference (craniosynostosis) characterized by a large skull, widely spaced eye sockets, bulging eyeballs, tilted eyelids, underdevelopment of the upper jaw, misalignment and crowding of the teeth, webbed fingers, toes or both; can also include cleft palate and mental retardation. The gene for Apert Syndrome has been located on chromosome 10, and it is called Fibroblast Growth Factor Receptor 2 (FGFR2). (Charkins, 1996)

Beckwith-Wiedermann Syndrome

Beckwith-Wiedemann Syndrome (BWS), a rare genetic disorder, may be characterized by a wide spectrum of symptoms and physical features that vary in range and severity from case to case. However, in many individuals with the disorder, associated symptoms and findings may include excessive size and height (gigantism); an unusually large tongue (macroglossia); enlargement of abdominal organs (visceromegaly), such as the liver and spleen (hepatosplenomegaly); protrusion of part of the intestines through a defect in the abdominal wall at the umbilicus or navel (umbilical hernia [exomphalos] or omphalocele); and/or enlargement of cells within the outer layer of the adrenal glands (adrenocortical cytomegaly). Additional features may include low blood sugar levels within the first days of life (neonatal hypoglycemia); advanced bone age, particularly up to age four; the presence of distinctive linear grooves within the ear lobes and/or other abnormalities of the head and facial area; and/or an increased predisposition to certain childhood cancers. (National Organization for Rare Disorders, Inc, 2000)

Bell's Palsy

One-sided facial paralysis resulting from damage to the seventh (facial) cranial nerve that may result in the inability to close the eye. Symptoms may also include pain, tearing, drooling, and auditory hypersensitivity.

Carpenter Syndrome

Condition of facial difference characterized by an asymmetric tower-shaped skull, short neck, webbing of fingers and toes, and extra fingers. It is a very rare form of (multiple suture) craniosynostosis, and is passed on through an autosomal recessive inheritance pattern. (Charkins, 1996)

CHARGE Syndrome/Association

CHARGE Association is a rare disorder that results from several defects during early fetal development and affects several organ systems of the body. CHARGE is an acronym that stands for (C)oloboma of the eye, (H)eart defects, (A)tresia of the Choanae, (R)etardation of growth and development, (G)enital and Urinary anomalies, and (E)ar anomalies. Four of these characteristic findings must be present to confirm the diagnosis of CHARGE Association. In addition to these classic findings associated with CHARGE Association, some affected infants may also have other abnormalities including characteristic facial features, paralysis of certain facial nerves (facial palsy), incomplete closure of the roof of the mouth (cleft palate), a vertical groove in the upper lip (cleft lip), an abnormal connection between the windpipe and the tube that carries food from the mouth to the stomach (tracheoesophageal fistula), and/or kidney (renal) malformations. The physical findings and symptoms of individuals with CHARGE Association may vary greatly from case to case. The exact cause of CHARGE Association is not known; most cases are thought to occur randomly, for no apparent reason (sporadic). (NORD's Rare Disease Database, 2000)

Cleft Lip and/or Palate

Cleft lip is the split of the upper lip, and cleft palate is the split of the roof of the mouth, and are the most common congenital facial differences. Both types of clefts result from an incomplete fusion of skin, muscle, or bone during early fetal development (between the fifth and twelvth week of pregnancy). Cleft lip and cleft palate can occur separately or together as a child's only facial difference, or can occur together with other characteristics of a syndrome or other congenital condition.

Craniosynostosis

Premature closing of the seams (sutures) between the bones of the skull...causing distortion and underdevelopment of parts of the skull and often the face (usually midface). Conditions resulting from this are separated into two major categories:

1) Single Suture Craniosynostoses—may occur spontaneously or may be inherited through autosomal dominance. These include scaphocephaly (a "boat-shaped" skull), trigonocephaly (a "triangular-shaped" skull), and synostotic plagiocephaly (an oblique or twisted skull, also know as unilateral coronal synostosis).

2) Multiple Suture Craniosynostoses—most occur spontaneously, however, once they occur, there is a 50% chance they wil be passed on as they are autosomal dominant disorders. There are over 70 multiple suture craniosynostoses, all classified as syndromes. The best known of these are Apert, Crouzon, Pfeiffer, and Saethre-Chotzen syndromes. (Charkins, 1996)

Crouzon Syndrome

Condition of facial difference (craniosynostosis) characterized by an underdevelopment of the bones in the middle third of the face and skull; a high, flat, prominent forehead and increased head width, bulging of the eyes, strabismus, receded upper jaw, high and narrow palate. The gene for Crouzon Syndrome has been mapped to chromosome 10. It is called Fibroblast Growth Factor Receptor 2 (FGFR2), and is the same gene responsible for Apert and Pfeiffer Syndromes. (Charkins, 1996)

Freeman-Sheldon Syndrome

A genetic condition of facial difference characterized by microstomia (small mouth), flat mid-face, webbing of the neck, contractures of the hands and fingers, and club feet. Also called "whistling face syndrome." The condition can run in families or occur spontaneously. (Charkins, 1996)

Goldenhar Syndrome (including Hemifacial Microsomia)

Condition of facial difference characterized by an underdevelopment of facial bones and soft tissue, often occuring on one side of the face, though it can occur bilaterally. Common features include: underdevelopment of the cheekbone and lower jaw, chewing muscles, temple, outer, middle,and inner ear (cochlea), facial nerve and facial muscles, hearing loss, dental problems, notch at the corner of the mouth (macrostomia). Also known as oculo-auricular-vertebral syndrome, Hemifacial Microsomia may occur with cardiac, pulmonary, and vertebral complications (Charkins, 1996). There is a great deal of variability in expressivity (features and severity vary greatly).

Hemangioma

A usually harmless tumor made up of blood vessels that can occur as a birthmark or develop later in life. Can be flat or raised: found anywhere in the body, but usually in the skin. Types include: "strawberry" or "raspberry" marks, port wine stains, cavernous. (Charkins, 1996)

Miller Syndrome (postaxial acrofacial dysostosis)

An extremely rare condition of facial difference characterized by downslanting eyes; cleft palate; recessed lower jaw; small cup-shaped ears; a broad nasal ridge; limb anomalies that may include shortened and bowed forearms, underdevelopment of the cheekbones and forearm (radius and ulna); missing or webbed fingers and toes, and abnormal growth of the lower leg (tibia and fibula).

Moebius Syndrome

A condition of facial difference characterized by paralysis of the seventh (sometimes sixth) cranial nerve(s), microtia, and sometimes chest and limb anomalies (extra or webbed fingers or toes), cleft palate, hearing impairment, and a small mouth and jaw. (Charkins, 1996)

Nager Syndrome (acrofacial dysostosis)

A condition of facial difference (with great variability of expression) commonly characterized by flat cheeks and downslanting eyes, almost total absence of the eyelashes, low-set cupped ears, very small lower jaw, asymmetric underdevelopment (or absence) of the thumbs (Charkins, 1996) and the radial limbs. May also include clefting of the hard or soft palate.

Nevus

A pigmented or nonpigmented spot on the skin; may be flat or raised, hairy, smooth, or warty. Some types include: nevus flammeus (port wine stain—a flat, purple-red mark, usually on face or neck); nevus vasculosus (strawberry mark—a bright red, raised mark that increases in size); systematized nevus (a widespread congenital nevus that follows a pattern). (Charkins, 1996)

Parry-Romberg Syndrome

Also known as Progressive Facial Hemiatrophy (PFH) and Progressive Hemifacial Atrophy (PHA), Parry-Romberg Syndrome involves a slow, progressive wasting of the soft tissues of half of the face, usually affecting the eyes and hair. May also involve neurological abnormalities such as siezures and trigeminal neuralgia. The range and severity of symptoms vary greatly.

Pfeiffer Syndrome

A condition of facial difference (multiple suture craniosynostosis) characterized by a tall head that is flat in the front, bulging of the eyes, a receded midface, high arched palate, crowded teeth, broad thumbs, and big toes, and usually normal intelligence. Often confused with Crouzon syndrome, Pfeiffer Syndrome—which is also an autosomal dominant syndrome—may result from a genetic mutation on either chromosome 8 (FGFR1) or chromosome 10 (FGFR2). (Charkins, 1996)

Pierre Robin Sequence

A condition of facial difference characterized by severe underdevelopment of the lower jaw, a backward-positioned tongue, and usually a cleft palate. If other problems are noted, the child has a syndrome. The two conditions that most commonly cause Pierre Robin sequence are Stickler and velocardiofacial (Shprintzen) syndromes. (Charkins, 1996)

Port Wine Stain (Capillary Hemangioma)

A flat, purple-red birthmark. (Charkins, 1996)

Positional (Deformation) Plagiocephaly

Skull asymmetry ("twisted") characterized by a flattening of various surfaces of the skull, not caused by premature fusion of skull sutures (which is known as "synostotic plagiocephaly"). With Positional Plagiocephaly, skull x-rays will show open sutures. Possible causes include Torticollis, premature birth, intrauterine pressure, or sleeping position.

Saethre-Chotzen Syndrome (Acrocephalosyndactyly Type III)

A condition of facial difference (multiple suture craniosynostosis) characterized by asymmetric head and face, low-set hairline with turned up hair follicles, droopy eyelids (ptosis), low-set ears, beaklike nose, deviated septum, short fingers with some possible fusing. The features are not very obvious, and may be confused with either Crouzon, or Pfeiffer syndrome or with unilateral coronal synostosis. Saethre-Chotzen Syndrome is distinct, however, because the site of the altered gene lies on chromosome 7. (Charkins, 1996)

Stickler Syndrome

A condition of facial difference with is characterized by skeletal abnormalities, arthritis, and eye problems, in addition to features of Pierre Robin sequence. (Charkins, 1996)

Sturge-Weber Syndrome

A congenital condition characterized by a port wine stain, usually on one side of the face, and a hemangioma on the brain. May also include seizures, glaucoma, developmental delays, and enlarging of the eye on the side of the port wine stain. (Charkins, 1996)

11;22 Translocation

Translocation of the 11th and 22nd chromosome can result in a condition know as Partial Trisomy 11;22 [also known as Trisomy 22, Supernumerary der (22) Syndrome, or unbalanced 11;22 translocation]. This condition may include cleft palate, heart defects, ear anomalies, genital anomalies in males, muscular hypotonia (low muscle tone), moderate-to-severe mental deficiency, and several other physical differences, with great variability in expression.

Treacher Collins Syndrome (Mandibulofacial Dysostosis / Francheschetti-Klein Syndrome)

A condition of facial difference characterized by bilateral and symmetric underdevelopment of the bones and soft tissue of the head and face. Common features include:downward slanting eyes, notching of the lower eyelids (colomboma), sparse or absent eyelashes in the inner one-third of the lower eyelids, underdevelopment of the cheekbones, lower jaw and upper jaw, bite problems, small face, underdeveloped and/or unusually formed outer ears, and hearing loss. (Charkins, 1996)

Velo-Cardio-Facial Syndrome (Shprintzen Syndrome; 22q11.2 Deletions)

A condition of facial difference, characterized by flattening of the cheeks, a receded lower jaw, prominent nose with a square-shaped root, narrow nasal passages, long and thin upper lip with down-slanting mouth, cleft palate or submucous cleft palate, abnormalities of the heart, and learning disabilities. Some infants exhibit Pierre Robin sequence. (Charkins, 1996)