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Craniofacial Glossary

A

Acanthosis nigricans: A skin abnormality that involves the development of patches of darker pigmented (colored), thickened (velvety feeling) skin on the neck and eyelids and around the mouth.
Adenoidectomy: A surgical procedure to remove adenoids or lymphoid tissue in the back of the nose.
Alveolus: The part of the jaws where the teeth grow.
Alveolar bone graft: Surgically adding bone to the alveolar bone.
Anterior fontanelle: The "soft spot" towards the front of the top of an infant's head between the growing skull bones.
Apert syndrome: A craniofacial malformation syndrome caused by craniosynostosis, or premature closure of one or more of the sutures (joints) that separate the bony plates of the skull. Apert syndrome is caused by mutations in Fibroblast Growth Factor Receptor 2.
Articulation: The way your child makes sounds.
Audiologist: A hearing specialist trained to test hearing.
Aural atresia: Indicates the lack of an ear canal, i.e., the development of the middle and outer ear proceeds independently of inner ear development.
Autosomal dominant condition: A condition caused by a genetic change in one of the 22 nonsex chromosomes wherein only parent needs to have an abnormal gene for the child to inherit the disease.; A person with an autosomal dominant syndrome has a 50 percent chance of passing the syndrome on to the child.

B

Bicoronal synostosis: Means that both of the coronal sutures of the skull have fused together, causing an abnormal head shape and potentially increasing pressure on the growing brain.
Bone graft: Surgery to place new bone into spaces between or around fractures (broken bone) or defects (holes) in bone. New bone to be grafted around fractures or defects can be autografts (taken from the patient's own healthy bone) or allografts (from frozen, donated bone).
Branchial arches: Five ridges that develop in the side walls of the embryo's throat during the fourth and fifth week of fetal development.

C

Cephalogram: An X-ray of the face showing the full profile. The cephalogram details the patient's dental occlusion (bite) and the relationship between the occlusion and their skeletal structure.
Chiari malformation: An abnormality of the back of the brain. Also known as Arnold Chiari malformation, this is an uncommon congenital anomaly (occurrence at birth) in which two parts of the brain, the brainstem and the cerebellum, are longer than normal and protrude down into the spinal canal causing tissue compression and hindering normal spinal fluid flow.
Chromosomes: Threadlike structures found in every cell of the body. Each chromosome contains hundreds of genes. A human cell normally contains 46 chromosomes, 23 from each parent.
Cleft: A gap that occurs in the lip or roof of the mouth when parts of them don't fuse together during pregnancy.
Cleft lip: Has several forms:; Bilateral cleft lip is a cleft in both sides of the lip.; Complete bilateral cleft lip involves two wide gaps in the upper lip and the alveolus of the upper jaw.; Microform cleft is a small notch in the red part of the lip, an incomplete cleft lip.; Unilateral cleft is a cleft on one side of the lip.
Cleft palate: The condition in which the inside of the nose and mouth are not separated and there is an opening in the roof of the mouth.
Coloboma: People who are missing a portion of the structure of the eye. The human eye develops between the fourth and 15th week of pregnancy. As it starts to develop, a gap opens on the underside of each eye bud.; This gap provides a way for the developing eye to be nourished. This gap, called the optic fissure, has to close before the eye is fully developed. Coloboma is the incomplete closer of the optic fissure.
Complex syndactyly: A condition in which the fingers and toes are joined together, or webbed, because the bones in the tips of the digits are fused.
Computerized tomography (CT scan): An X-ray procedure that takes cross-sectional views or "slices" of the body, which can be further post-processed on a computer for 3-dimensional display and analysis.
Conotruncal anomaly unusual face syndrome: Another name for velocardiofacial syndrome.
Craniofacial microsomia: Another name for hemifacial microsomia.
Craniosynostosis: The early closing of one or more of the sutures (joints) that separate the bony plates of the skull.
Crouzon syndrome: A genetic condition with features of craniosynostosis (the early closure of skull sutures) and abnormal development of the eye sockets and midface. There is abnormal fusion between some of the bones of the skull and face that does not allow the bones to grow normally.; The features of Crouzon syndrome were first described by the French neurosurgeon Dr. O. Crouzon in 1912. Crouzon syndrome is caused by mutations in Fibroblast Growth Factor Receptor 2.

D

Deformational plagiocephaly: Another name for positional plagiocephaly.
DiGeorge syndrome: A severe form of 22q11.2 deletion syndrome or velocardiofacial syndrome.
Distraction osteogenesis: A technique that uses a small metal device to slowly lengthen a bone(s) without requiring a bone graft.
Dolichocephaly of prematurity: A kind of positional plagiocephaly in very premature babies involving a long and narrow head.

E

Echocardiogram: An ultrasound picture of the heart.
Endoscopic tests: Used to view the interior of an organ.
Epibulbar dermoid: A pinkish-white growth on the eye.
Epiphysis: The end of the bone that makes up a joint.
Express breast milk: A way of compressing the breast to make milk come out.

F

Facial tags: Tags of skin in front of the ear, also called preauricular tags.
Facio-auriculo vertebral syndrome: Another name for hemifacial microsomia.
Fibroids: Benign tumors made of fibrous and muscular tissue.
First and second branchial arch syndrome: Another name for hemifacial microsomia.
Fluoroscopy: A moving X-ray.
Franceschetti-Zwalen-Klein syndrome: Another name for Treacher Collins syndrome.
Furlow palatoplasty: A procedure designed to bring the abnormally positioned muscles of the palate into a more normal position.

G

Gastrostomy tube: A tube through the abdominal wall into the stomach used for feeding children who cannot feed by mouth.
Gingivoperiosteoplasty: A procedure to close a cleft in the gum.
Glossoptosis: An abnormal downward or backward placement of the tongue obstructing the airway, common in Robin sequence.
Goldenhar syndrome: A term used to describe children with hemifacial microsomia, dermoids of the eye, cervical spine abnormalities, and heart defects. Goldenhar is thought by many to be a severe form of hemifacial microsomia.

H

Haberman Feeder: A special bottle for feeding babies with clefts that works particularly well for babies who are small or premature, or who have cleft palate only.
Head orthosis helmet: A helmet that improves the shape of a baby's skull, taking advantage of rapid infant head growth.
Hemifacial microsomia: A condition in which part of the face is underdeveloped. The syndrome varies in severity, but always includes poor development of the ear and the mandible (lower jaw). It is the second-most common birth defect, after clefts.
Hydrocephalus: Excess spinal fluid buildup in or on the brain.
Hypermobile: Abnormally flexible.

K

Keratitis: Inflammation of the cornea caused by irritation and producing watery, painful eyes and blurred vision.

L

Lateral facial dysplasia: Another name for hemifacial microsomia.
LeFort I maxillary advancement: A procedure to move the upper jaw forward to a better position.
LeFort III midface advancement: A procedure to move the middle and upper portion of the face forward.

M

Macrostomia: A greatly exaggerated width of the mouth, resulting from the failure of the upper jaw and lower jaw processes to merge properly in the first weeks of fetal development in the first branchial arch.
Malocclusion: A bad bite, a condition in which the opposing teeth do not mesh normally.
Mandible: The lower jaw.
Mandibulofacial dysostosis: Another name for Treacher Collins syndrome.
Maxilla: The upper jaw.
Mead-Johnson Cleft Palate Nurser: A soft squeezable bottle for feeding babies with clefts that is inexpensive and readily available in most nurseries.
Micrognathia: An abnormal smallness of the lower jaw.
Microtia: An abnormally small external ear.
Midface hypoplasia: Abnormally slow growth of the upper two-thirds of the face.
Mucous membrane: A membrane rich in mucous glands, such as the lining of the roof of the mouth or nose.
Multiple Sleep Latency Test: A daytime nap study following a polysomnogram.
Myopia: Nearsightedness.

N

Nasoalveolar molding: A nonsurgical method of reshaping the mouth, lip and nostrils to lessen the severity of a cleft before cleft lip and palate surgery.
Nasopharyngeal airway (nasal trumpet): A small tube placed through the nose into the upper airway that keeps the airway open.
Nasopharyngeal stenosis: Difficulty breathing through the nose.
Nasopharyngoscopy: An exam that uses a flexible fiber optic tube inserted into the nose to see the back of the throat.
Neonatologist: A doctor trained specifically to handle complex and high-risk health problems in newborns.

O

Obstructive sleep apnea: A disorder in which a patient's breathing passageway is partially or fully closed during sleep, impeding the flow of air into and out of the lungs.
Obturator: Like a modified dental retainer with a speech bulb or palatal lift attached to the back used to treat velopharyngeal insufficiency.
Oculo-auriculo-vertebral sequence: Another name for hemifacial microsomia. This term is used to describe the entire clinical spectrum ranging from microtia to Goldenhar syndrome.
Orbits: The bony housing of the eye.
Orthognathic: Related to the study of the causes and treatment of conditions related to malposition of the jawbones.
Osteotomy: A break made in a bone or more specifically the operation of dividing a bone or cutting a piece out of a bone in a surgery.
Otolaryngologists: Ear, nose and throat specialists.
Otomandibular dysostosis: Another name for hemifacial microsomia.

P

Palate: The roof of the mouth.
Pathogenesis: The origin and development of a disease.
Pierre Robin complex: Another name for Pierre Robin sequence.
Pierre Robin sequence: A birth defect that involves an abnormally small lower jaw and a tendency for the tongue to "ball up" and fall backward toward the throat blocking the airway.; It is a called a sequence because it is thought to result from a series of events that occur in embryonic development.
Pierre Robin syndrome: Another name for Pierre Robin sequence.
Pigeon Nipple: Can be used with any bottle to feed babies with clefts. It does not require squeezing, has a faster flow than the Haberman or squeeze bottle and works well for slightly older infants.
Polysomnogram: A sleep study designed to find abnormalities during sleep.
Positional plagiocephaly: Refers to an asymmetric or lopsided head shape typically with flattening in one area caused by an external force or pressure.; Positional plagiocephaly is also known as flattened head syndrome, non-synostotic plagiocephaly, and postnatal positional plagiocephaly.
Preauricular tags or pits: Refers to tiny tags or pits of skin that are present in front of the ear and form during early embryonic development. Preauricular malformations are one of the mildest anomalies.

R

Radiographs: Two dimensional X-ray images. They are especially good for studying bony tissue, such as the skull and teeth.
Rhinoplasty: Plastic surgery of the nose.
Robin Anomalad: Another name for Pierre Robin sequence.

S

Saethre-Chotzen syndrome: An inherited type of craniosynostosis or early closing of one or more of the sutures (joints) that separate the bony plates of the skull. Saethre-Chotzen syndrome is caused by mutations in the gene TWIST.
Scoliosis: Curvature of the spine.
Shprintzen syndrome: Another name for velocardiofacial syndrome. It's caused by microdeletions on chromosome 22 (22q11.2 deletion).
Skin tags: Tiny skin protrusions and may have a small narrow stalk connecting the skin bump to the surface of the skin. They are usually painless and do not grow or change.
Speech coordination: Putting sounds together.
Sphincter pharyngoplasty: A procedure in which the surgeon moves tissue from the back of the throat closer to the back of the palate. It is designed to treat velopharyngeal insufficiency when the problem is the movement of the back of the throat.
Stickler syndrome: A genetic disorder of connective tissue that results in variable problems with vision, hearing and facial and skeletal development. Many children with Stickler syndrome have cleft palates. Three forms are known and are all caused by mutations in collagen genes.
Submucous cleft: A cleft palate covered by the lining or mucous membrane of the roof of the mouth.
Superior orbital rim: The brow bone.
Sutures: Specialized joints between skull bones that expand during normal brain growth.
Syndromes: Diseases or disorders that have more than one identifying feature or symptom.

T

3-D CT Scan imaging: The volumetric display of imaging data. CT data from a high-speed scanner can be post processed on a powerful workstation to create three dimensional, color referenced images of the interior of the body for improved diagnosis and understanding.
Torticollis: A limited range of motion in an infant's neck due to muscle tightness. This is an unnatural condition in which the head leans to one side because the neck muscles on that side are shortened. Toticollis is often associated with positional plagiocephaly.
Tracheotomy: A the operation of making an opening into the windpipe.
Tracheostomy: The placement of a breathing tube in the windpipe.
Treacher Collins: A rare, inherited, congenital craniofacial condition affecting the bones, jaws, skin and muscles of the face. Treacher Collins syndrome is caused by mutations in the TREACLE gene.
Trismus: A limited opening of the mouth or a prolonged spasm of the jaw muscles, also referred to as lockjaw.
22q11.2 deletion syndrome: Another name for velocardiofacial and DiGeorge syndrome.
Tympanostomy tube: A small plastic tube inserted in the eardrum to improve hearing in children with chronic ear infections or middle ear fluid.

V

Van der Woude syndrome: A commonly inherited form of cleft lip and palate. Patients with van der Woude syndrome are born with "pits" or mounds of tissue in the lower lip, cleft lip, cleft palate or cleft lip and palate. van der Woude syndrome is caused by mutations in the IRF6 gene.
Velocardiofacial syndrome: A genetic disorder caused by a microdeletion on chromosome 22 (22q11.2 deletion) and associated with more than 30 different identifying features. The name comes from the Latin words velum (palate), cardia (heart) and facies (having to do with the face).
Velopharyngeal closure: The process of closing off the nose from the mouth during speech. During this process, several structures come together, including the velum (soft palate or roof of the mouth), the lateral pharyngeal walls (or side walls of the throat) and the posterior pharyngeal wall (or the back wall of the throat).
Velopharyngeal insufficiency: A disorder resulting in the improper closing of the velopharyngeal sphincter (soft palate muscle) during speech, allowing air to escape through the nose instead of the mouth.
Velopharyngeal sphincter: The soft palate muscle and muscles of the throat.
Velum: The soft palate or roof of the mouth.
Ventriculoperitoneal shunt: A tube draining excess fluid from areas within or surrounding the brain into the abdomen.
Videofluoroscopic swallowing study: A diagnostic procedure done under a moving X-ray (fluoroscopy) that is used to further the clinical understanding of the swallowing process and assess the swallowing mechanism.
Vitreous humor: The gelatinous substance that fills the cavity behind the lens of the eye.

Z

Zygomas: The cheekbones, forming part of the orbit of the eye.