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Glossary - Craniofacial Anomalies

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Anomaly - a health problem or feature not normally present in a healthy individual; a deviation from the normal.

Anosmia - lack of sense of smell.

Anterior - the front side.

Anterior fontanelle (also called soft spot) - the junction where the two frontal and two parietal bones meet. The anterior fontanelle remains soft or open until 1 - 2 years of age.

Apert syndrome - A craniofacial abnormality characterized by an abnormal head shape, small upper jaw, and fusion of the fingers and toes.

Asymmetry - lacking symmetry; parts of the body are unequal in shape or size.

Audiologist - a healthcare professional trained to identify and measure hearing impairments and related disorders using a variety of tests and procedures.

Audiology - the study of hearing and hearing disorders.

Auditory nerve - eighth cranial nerve that connects the inner ear to the brainstem.


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Bilateral - affecting both sides.

Bone graft - a transplant of bone taken from one area to another area.

Brachycephaly - disproportionate shortness and wideness of the head.

Bruxism - the condition of incessant grinding and clenching of the teeth, unintentionally, and at inappropriate times.


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Cephalometric x-ray - an e-ray with the patient's head in a fixed position, from which measurements of the cranium and the face can be made.

Choroid - the thin, blood-rich membrane that covers the white of the eyeball; responsible for supplying blood to the retina.

Chromosome - a structure in the nucleus of cells which contains genes.

Ciliary body - the part of the eye that produces aqueous humor (the clear, watery fluid that moves in the eyeball).

Cleft lip - an abnormality in which the lip does not completely form. The degree of the cleft lip can vary greatly, from mild (notching of the lip) to severe (large opening from the lip up through the nose).

Cleft palate - occurs when the roof of the mouth does not completely close, leaving an opening that can extend into the nasal cavity. The cleft may involve either side of the palate. It can extend from the front of the mouth (hard palate) to the throat (soft palate). The cleft may also include the lip.

Cochlea - snail-shaped structure in the inner ear that contains the organ of hearing.

Computed tomography scan (also called CT or CAT scan) - a diagnostic imaging procedure that uses a combination of x-rays and computer technology to produce horizontal, or axial, images (often called slices) of the body. A CT scan shows detailed images of any part of the body, including the bones, muscles, fat, and organs. CT scans are more detailed than general x-rays.

Conductive hearing impairment - hearing loss caused by dysfunction of the outer or middle ear.

Condyle - point where one bone meets another bone.

Congenital - present at birth.

Congenital anomaly - a health problem present at birth (not necessarily genetic).

Cornea - the clear, dome-shaped surface that covers the front of the eye.

Corneal curvature - the shape of the front surface of the eye.

Coronal suture - the joining line (suture) between the frontal and parietal bones of the skull that crosses the top of the skull from temple to temple.

Craniofacial - pertaining to the head (skull) and face.

Craniosynostosis - a condition in which the sutures (soft spots) in the skull of an infant close too early, causing problems with normal brain and skull growth. Premature closure of the sutures may also cause the pressure inside of the head to increase and the skull or facial bones to change from a normal, symmetrical appearance.

Crossbite - an abnormal relation of one or more teeth, in which the buccal or outside cups of the lower (mandibular) teeth are lateral to the those of the upper (maxillary) teeth.

Cytogenetics - the study of chromosomal material.


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Decibel - unit that measures the intensity or loudness of sound.

Deciduous teeth - the primary teeth (baby teeth) which are replaced by the permanent teeth.

Dental arch - the horseshoe-shaped sections of the jaws that contain the teeth.

Depth perception - the ability to distinguish objects in a visual field.

Diagnostic testing - used to identify or confirm the diagnosis of a disease or a condition in a person or a family.

Diplopia - double vision.


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E.N.T. - referring to the ear, nose, and throat.

Eustachian tube - a canal that links the middle ear with the throat area. The eustachian tube helps to keep the pressure between the outer ear and the middle ear the same. Having the same pressure allows for the proper transfer of sound waves. The eustachian tube is lined with mucous, just like the inside of the nose and throat.


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Frontal bone - front part of the skull.


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Gene - a segment of DNA that produces a protein product; genes determine traits.

Gene therapy - inserting the normal gene into a person, to replace a non-working or missing gene.

Genetic - determined by genes or chromosomes.

Genetic counselor - a professional who reviews the medical and family history, as well as examines your child to help in diagnosis. A genetic counselor also counsels your family regarding risk for recurrence of craniofacial abnormalities in future pregnancies.

Genioplasty - surgery of the chin, whereby its shape or size is altered.


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Hard palate - the roof of the mouth.

Hearing - series of events in which sound waves in the air are converted to electrical signals that are then sent as nerve impulses to the brain where they are interpreted.

Hearing aid - electronic device that brings amplified sound to the ear.

Hearing disorder - disruption in the normal hearing process; sound waves are not converted to electrical signals and nerve impulses are not transmitted to the brain to be interpreted.

Hemifacial microsomia (also called Goldenhar syndrome, brachial arch syndrome, facio-auriculo-vertebral syndrome, oculo-auriculo-vertebral spectrum, or lateral facial dysplasia) - a condition in which the tissues on one side of the face are underdeveloped, affecting primarily the ear (aural), mouth (oral), and jaw (mandibular) areas. Sometimes, both sides of the face can be affected and may involve the skull, as well as the face.

Hydrocephalus - a condition marked by an excessive accumulation of fluid within the brain.

Hyaloid canal - narrow passageway that allows blood to flow through the eye during development.


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Inheritance - used to describe a trait or gene passed from one generation to the next.

Inner ear - part of the ear that contains both the organ of hearing (cochlea) and the organ of balance (labyrinth).

Iris - the colored part of the eye. The iris is partly responsible for regulating the amount of light permitted to enter the eye.


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Larynx (also called voice box) - a cylindrical grouping of cartilage, muscles, and soft tissue which contains the vocal cords. The vocal cords are the upper opening into the windpipe (trachea), the passageway to the lungs.

Lens (also called crystalline lens) - the transparent structure inside the eye that focuses light rays onto the retina.

Lower eyelid - lower, inferior, less mobile fold that covers the front of the eyeball when closed.


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Macula - the portion of the eye that allows us to see fine details clearly.

Malocclusion - an orthodontic or orthognathic problem that means "bad bite," including crowded, missing, or crooked teeth, extra teeth, or a misaligned jaw.

Mandible - the lower jaw.

Mastoid - back portion of the temporal bone behind the ear.

Maxilla - the upper jaw.

Medial canthus - medial (middle or center) angle of the eye.

Microgenia - a small or underdeveloped chin.

Microglossia - smallness of the tongue.

Micrognathia - abnormal smallness of the lower jaw.

Middle ear - part of the ear that includes the eardrum and three tiny bones of the middle ear, ending at the round window that leads to the inner ear.

Multifactorial - an inheritance pattern involving both genetic and environmental factors.

Myringotomy - surgical procedure to remove infection from behind the ear drum.


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Nasal - relating to the nose.

Neurosurgeon - a surgeon who specializes in the brain, spinal cord, and nerves; also coordinates all surgical interventions of head abnormalities with the craniofacial surgeons (i.e., craniosynostosis).

Nurse team coordinator - a registered nurse who combines experience in pediatric nursing with specialization in the care of your child, and acts as liaison between your family and the craniofacial team.


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Occlusion - any contact between the biting and chewing surfaces of the upper and lower teeth.

Ophthalmologist - a physician who specializes in the structures, functionality, and diseases of the eye. An ophthalmologist evaluates and plans treatment of associated eye problems in coordination with other surgical interventions.

Ophthalmoscopy - examination of the internal structure of the eye.

Oropharynx - the part of the throat at the back of the mouth.

Oral cavity - relating to the mouth cavity.

Orbit - the bony area surrounding the eyeball.

Orthodontics - the dental specialty that focuses on the development, prevention, and correction of irregularities of the teeth, bite, and jaws.

Orthodontist - a dentist who evaluates the position and alignment of your child's teeth and coordinates a treatment plan with the surgeon and other specialists.

Ostectomy - surgical removal of a bone.

Otitis externa - inflammation of the outer part of the ear extending to the auditory canal.

Otitis media - inflammation of the middle ear caused by infection.

Otolaryngologist (ear-nose-throat specialist) - a physician who will assist in the evaluation and management of ear infections and hearing loss that may be side effects of your child's cleft abnormality.

Otologist - a physician who specializes in diseases of the ear.

Outer ear - external portion of the ear, consisting of the pinna, or auricle, and the ear canal.

Overbite - the up and down (vertical) overlapping of the lower teeth by the upper teeth.


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Pediatric dentist - a dentist who evaluates and cares for your child's teeth.

Pediatrician - a physician who will follow your child as he/she grows and help coordinate the multiple specialists involved.

Periodontist - a specialist in the field of dentistry responsible for the care and prevention of gum-related diseases, guided bone regeneration, and dental implants.

Pharynx - back of the throat.

Phonology - study of speech sounds.

Plastic/craniofacial surgeon - a surgeon with specialized training in the diagnosis and treatment of skeletal abnormalities of the skull, facial bones, and soft tissue; will work closely with the orthodontists and other specialists to coordinate a surgical plan.

Posterior - referring to the back part of a structure.

Posterior fontanelle - the junction of the two parietal bones and the occipital bone. The posterior fontanelle usually closes first, before the anterior fontanelle, during the first several months.

Prosthesis - a device that is substituted for a diseased or missing part of the body.

Psychiatrist - a physician who assesses the psychosocial function and behavioral development of your child. The psychiatrist will assist the family in identifying therapy resources and coordinates referrals with the social services department.

Pupil - the dark center in the middle of the iris through which light passes to the back of the eye.

Pupillary response - the constriction or dilation of the pupil as stimulated by light.


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Retina - the light-sensitive nerve layer that lines the back of the eye. The retina senses light and creates impulses that are sent through the optic nerve to the brain.


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Scaphocephaly - a form of craniosynostosis that results in a long, narrow head. Scaphocephaly is an early fusion of the sagittal suture. This suture runs front to back, down the middle of the top of the head.

Sclera - the white visible portion of the eyeball. The muscles that move the eyeball are attached to the sclera.

Smell - to perceive odor or scent through stimuli affecting the olfactory nerves.

Soft palate - the muscular, movable part of the roof of the mouth.

Sound vocalization - ability to produce voice.

Speech - making definite vocal sounds that form words to express thoughts and ideas.

Speech and language specialist - a health professional who will perform a comprehensive speech evaluation to assess your child's communicative abilities and who will closely monitor your child throughout all developmental stages.

Speech disorder - defect or abnormality that prevents an individual from communicating by means of spoken words.

Syndrome - a group of characteristics that occur together.


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Temporomandibular joints (TMJ) - the two complex joints that connect the jaw (mandible) to the skull (temporal bone).

Throat disorders - disorders or diseases of the larynx (voice box) or esophagus.

Tongue - large muscle on the floor of the mouth that manipulates food for chewing and swallowing; the main organ of taste and also assists in forming speech sounds.

Trachea - windpipe.

Trigonocephaly - a form of craniosynostosis that results in a triangular configuration of the skull. Trigonocephaly is the premature fusion of the two halves of the frontal bones at the metopic suture.

Tympanic membrane (also called eardrum) - a thin membrane that in the middle ear that carries sound vibrations to the inner ear.


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Unilateral - affecting only one side.

Uvula - the small, cone-shaped fleshy pendant suspended in the mouth from the middle of the back edge of the soft palate.


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Vascular malformation - a birthmark or a growth, present at birth, which is composed of blood vessels that can cause functional or aesthetic problems.

Vestibule - bony cavity of the inner ear.

Vocal cords (also called vocal folds) - muscularized folds of mucous membrane that extend from the larynx (voice box) wall; enclosed in elastic vocal ligament and muscle that control the tension and rate of vibration of the cords as air passes through them.

Voice - sound produced by air passing out through the larynx and upper respiratory tract.


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X-ray - a diagnostic test which uses invisible electromagnetic energy beams to produce images of internal tissues, bones, and organs onto film.


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Zygoma - malar bone, cheek bone.