A craniofacial condition (also referred to as a craniofacial anomaly, abnormality, malformation, or difference) is a deformity affecting a child’s facial structure and skull.
There are many types of craniofacial conditions. Learn a bit about some of them below.
Craniofacial Conditions & Anomalies
Amniotic Band Syndrome (ABS) is 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.
Una condición craneofacial (craneosinostosis) caracterizada por un cráneo grande, cuencas oculares muy separadas, globos oculares saltones, párpados inclinados, subdesarrollo de la mandíbula superior, desalineación y apiñamiento de los dientes, dedos palmeados, dedos de los pies o ambos; también puede incluir paladar hendido y retraso mental.
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).
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.
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 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 Coloboma of the eye, Heart defects, Atresia of the Choanae, receptoretardation of growth and development, Genital and Urinary anomalies, and Ear anomalies.
Cleft lip alone, cleft lip with cleft palate, or cleft palate alone, are the most commonly occurring congenital facial anomalies. Clefts result from an incomplete fusion of skin, muscle, or bone during early fetal development (between the fifth and twelfth 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.
About 1 in every 1,600 babies in the United States is born with a cleft lip and cleft palate. Approximately 1 in every 2,800 babies is born with a cleft lip alone in the United States, while 1 in every 1,700 babies is born with a cleft palate alone.
Other names: CLCD; Cleidocranial dysostosis; Dysplasia cleidocranial; Marie-Sainton disease.
Cleidocranial Dysplasia (CCD) is a rare genetic condition that affects the development of bones and teeth. Individuals with CCD may have underdeveloped bones of the skull, resulting in a distinctive appearance characterized by a prominent forehead and a broad, flat skull. The fontanels (spaces between the bones of an infant’s skull where the bones have not yet fused together) may remain open longer than usual in affected individuals. CCD can also affect the development of teeth, resulting in delayed or incomplete eruption of teeth. When teeth appear, they may also be misshapen, crowded, or not properly aligned. Individuals with CCD may also have underdeveloped or missing collarbones, short stature, abnormal curvature of the spine, osteopenia or osteoporosis, and joints that are hypermobile or which may dislocate easily.
Craniofacial microsomia (CFM) is the second most common birth defect that affects the face after cleft lip and palate. In patients with craniofacial microsomia, part of the face appears smaller than normal, and often other structures – including the eyes, ears, cheek and jaw bones – are also affected.
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:
- 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 known as unilateral coronal synostosis).
- Multiple Suture Craniosynostoses—most occur spontaneously, however, once they occur, there is a 50% chance they will 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)
El síndrome de Crouzon es uno de varios tipos de craneosinostosis, una condición que resulta de la fusión prematura de una o más suturas de los huesos del cráneo. Esto significa que las suturas craneales, o las articulaciones entre los huesos del cráneo, se cierran demasiado pronto, lo que provoca malformaciones craneales y faciales.
La condición fue descrita por primera vez en 1912 por un médico francés Octave Crouzon, quien observó a pacientes con malformaciones craneales características, anomalías faciales y proptosis (protuberancia de los ojos con respecto a su posición normal).
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)
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).
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.
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)
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 seizures and trigeminal neuralgia. The range and severity of symptoms vary greatly.
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)
A condition of facial difference is characterized by skeletal abnormalities, arthritis, and eye problems, in addition to features of Pierre Robin sequence. (Charkins, 1996)
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)
Translocation of the 11th and 22nd chromosome can result in a condition known 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.
Other names: TCS; TCOF; Treacher Collins-Franceschetti Syndrome; Mandibulofacial dysostosis; MFD1
Treacher Collins Syndrome (TCS) is a rare genetic disorder that affects the development of the bones and soft tissues in the face. Some of the common features of Treacher Collins Syndrome include underdeveloped cheekbones, a small mouth and jaw, ear abnormalities, downward-slanting eyes, and cleft palate. These features may vary in severity, and can affect both appearance and function – including breathing, feeding, and hearing.
Other names: VDWS; VWS; Cleft lip and/or palate with mucous cysts of lower lip; Lip pit syndrome; LPS
Van der Woude Syndrome is a rare genetic disorder characterized by cleft lip and/or cleft palate. Individuals with Van der Woude Syndrome may also have small depressions (pits) near the center of their lower lip. These may appear moist due to the presence of salivary and mucous glands in the pits. Small mounds of tissue may also be present on the lower lip.
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)
Charkins, H. (1996). Children with Facial Difference: A Parents’ Guide. Woodbine House, Inc. Bethesda. (material quoted and adapted here was published with the gracious consent of Woodbine House, Inc.)