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Goldenhar Syndrome Support Network Society
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Site Last updated:
January 22, 2006
Below is a list of Medical Terms explained in plain english.
If you know of any terms that should be listed here, let me know by sending an email to support@goldenharsyndrome.orgA B C D E F G H I J K L M N O P Q R S T U V W X Y Z
Abbe Flap- an operation in which some of the lower lip tissue is transferred to the repaired upper lip in order to achieve a fuller upper lip area. It is usually done when the upper lip repair is too tight.
Alar Cartilage- the cartilage that forms the tip of the nose and the nostrils.
Alveolar Collapse- the condition in which one or both sides of the upper gum move to the center, behind the premaxilla, disrupting the normal dentalarch.
Alveolus (Alveolar Process, Alveolar Ridge)- the part of the bony upper jaw that contains teeth (the upper gum).
Anomaly- anything marked by considerable deviation from the normal.
Anterior- in front, ventral.
Aplasia- Complete or partial failure of a tissue or an organ to develop.
Articulation- The process of forming speech sounds.
Asymmetry- Dissimilarity in corresponding parts.
Atresia- the absence of a normal body opening, duct or canal, as the anus, vagina, or ear canal.
Audiogram- A hearing test.
Auricular- a craniometric point at center of opening of external auditory canal.
Autogenous Bone- Bone transplant material that is harvested from the patient's own body.
Autosomal- referring to or characteristic of a non-sex determining chromosome (autosome); Referring to any condition carried by an autosome.
Autosomal Recessive Inheritance- A pattern of inheritance in which a non-dominant (recessive) gene on a non-sex determining chromosome (autosome) results in a person being either a carrier of a trait or being affected. Males and females are affected with equal frequency. There is usually no family history of the trait. Instead it is manifested when two unaffected parents who are both carriers of a particular recessive gene have a child. Cystic fibrosis, phenylketonuria, and galactosemia are examples of autosomal recessive inheritance.
Autosomal Dominant Inheritance- A pattern of inheritance in which a dominant gene on a non-sex determining chromosome (autosome) makes a certain characteristic. Males and females are affected in equal numbers. Affected individuals usually have an affected parent. Normal children of an affected parent do not carry the trait.
Bifid- split into two parts.
Bilateral Cleft Lip- A cleft that occurs on both sides of the lip.
Bossing (boss)- a round swelling.
Branchial Arches- artery & vein
Cancellous Bone- Bone marrow material used in bone graft surgery.
Carotid Artery- either of two large arteries, one on each side of neck, that carries blood to the head.
Cartilaginous- of or like cartilage. Skeleton formed mostly of Cartilage.
Cheiloplasty- surgery to close a cleft lip.
Cleft- A split or opening (in the lip or palate or both).
Coloboma- birth defect- extends along edge of eyeball. -Affects iris, ciliary body or blood vessel layer. (Choroid)
Columella- The outer portion of the nose that divides the nostrils.
Complete Cleft- A cleft that extends through the entire affected mouth structure.
Congenital Abnormality- defects present at birth.
Deciduous Teeth (Primary, Baby Teeth)- The teeth that are expected to come out as a part of normal development.
Dental Arch- The horseshoe shape of the upper gum.
Dermoid- 1. Resembling skin 2. A congenital cyst or saclike growth containing fluid and hair, skin, teeth, or other dermoid structures.
Dysplasia- abnormal development of tissue.
Edema- swelling
Ellipsoid- Any anatomic structure having an oval shape, especially any one of the oval masses of cells surrounding the second part of the penicillare artery of the spleen, and the outer portion of the inner rod segment of the retina. Ocular- concerning the eye or vision
Epibular- located upon the eyeball.
Esophageal Atresia- has to do with the esophagus.
Eustachian Tube- The tube that connects the middle ear to the back of the throat.
Familial Abnormalities- birth defects that occur in two or more family members.
Fistula- An abnormal passage between two internal organs, or from an organ to the surface of the body; usually designated according to the organs with which it communicates.
Gastrointestinal Reflux- an illness that occurs when the stomach contents "backup" into the esophagus, where they can possibly be aspirated (inhaled) into the lungs. This is a common problem for babies born with Goldenhar Syndrome that can be controlled with medications and/or surgery (Nissen fundoplication).
Genetic Counseling- counseling that involves providing information to at-risk parents who are expecting a child or planning a pregnancy or who have a child with birth defects or chromosomal abnormalities. It informs parents of their risks of fetal abnormalities in present or future pregnancies. It is advised for couples who are older or who have family histories of birth defects or chromosomal abnormalities.
Geneticist- a specialist in the study of genetic abnormalities and birth defects.
Hemifacial- pertaining to one side of the face.
Hypernasality (Nasality)- Greater than normal nasal resonance during speech.
Hypoplasia- Defective or incomplete development of an organ or a part.
Incisive Foramen- The point that divides the primary palate (lip and gum) from the secondary palate (hard and soft palates).
Inferior- Located in a lower position in relation to another structure.
Interdisciplinary Approach- A method of treating cleft lip and palate in which several medical, dental, speech, and hearing specialists work together, coordinating their efforts and planning a coordinated treatment.
Ipsilateral- On the same side; describing symptoms occurring on the same side as a lesion, such as a brain lesion.
Larynx- A structure located at the top of the trachea that produces sound; the voice box.
Lateral Maxillary Segments- The two side segments of the bony upper jaw, or upper gum ridge.
Levator Muscles- Muscles the lift or elevate, such as those found in the soft palate.
Lung Hypoplasia- failure of one or both lungs to develop fully.
Malar- of or relating to the cheek or cheek bone.
Malocclusion- A poor relationship of the upper teeth to the lower teeth during bite. Mandible - The lower jaw (chin). Maxilla - The bony upper jaw.
Mandibular- relates to the lower jaw.
Maxillary-Relating to the upper jaw (maxilla).
Maxillofacial Advancement- A procedure in which the maxilla is moved forward in order to achieve a more normal profile of the midface.
Medical Team- doctors, nurses, technician, dieticians, and therapists assigned to a patient's care.
Microsomia- abnormally small size of body.
Microtia- unusually small size of the auricle or external ear.
Midline Cleft- A very rare cleft condition in which a cleft occurs in the midline of the face. Most often occurring as a part of some other syndrome.
Mixed Dentition- The time during which you have some baby teeth and some permanent teeth.
Monozygotic Twins (identical twins)- two offspring born of the same pregnancy and grown from one fertilized egg that splits in equal halves.
Myringotomy- A procedure in which a tiny incision is made in the eardrum to allow the release of pressure caused by excess fluid. This procedure is other combined with the insertion of myringotomy tubes.
Narcotics- medications that cause the patient to sleep; highly addictive and must be weaned slowly (Fentynal, Methadone, Codeine, Morphine, etc.)
Nasal Alae (Ala Nasi) - The wings or sides of the nostril.
Nasal Septum - The internal structure that divides the nasal cavity.
Nasopharynx- The area that makes up the back of the throat.
NG-Tube- (nasogastric tube)-a plastic tube inserted through the patient's nose into the patient's stomach or intestines to aid in digestion when the patient cannot eat by mouth.
N.I.C.U.- (Neonatal Intensive Care Unit) a high-tech newborn nursery for critically ill babies.
Nissen Fundoplication- a surgical procedure where the opening between the lower end of the esophagus and the top part of the stomach is narrowed to prevent stomach contents from flowing backward into the esophagus.
Obturator- A retainer-like device sometimes worn over the cleft of the hard palate to aid in feeding and speech development.
Occlusal- pertaining to the closure of an opening.
Occulusion- The relationship between the upper and lower teeth when they are in contact.
Orbicularis Muscle- The muscle that surrounds the mouth and makes up the upper and lower lips.
Orbits- body pyramid shaped cavity of the skull, which holds the eyeball.
Otitis Media- An inflammation of the middle ear caused by infection, allergy, or improper functioning of the Eustachian tube.
Palatal Lengthening (Palatal pushback)- A surgical procedure in which tissue from the front part of the mouth is moved back to lengthen it.
Palate- The roof of the mouth, made up of the hard and soft palates.
Palatoplasty- The surgical closure of the cleft palate.
Partial Cleft- A cleft that extends through part of the affected structure.
Pharyngeal- Relating to the pharynx or back of the throat.
Pharyngeal Augmentation- Pieces of tissue or other substances used in the back of the throat to reduce the distance that the soft palate must move to achieve normal closure during speech.
Pharyngeal Flap Surgery- A procedure in which the surgeon creates a flap of tissue that connects the soft palate to the back wall of the throat to improve closure during speech.
Philtrum- The middle of the upper lip located above the vermillion and bordered on either side by soft ridges, or Philtrum lines (the "Cupid'sBow").
P.I.C.U.- (Pediatric Intensive Care Unit) a hospital ward for critically ill children.
Premaxilla- The front central section of the upper gum, containing the four upper front teeth.
Pinna- The projecting portion of the external ear; also called auricle.
Polyhydramnios- excess amount of amniotic fluid; usually an indicator of possible fetal problems or abnormalities.
Primary Surgery- The initial surgery to repair a cleft lip or palate.
Prolabium- The front portion of the upper lip. The prolabium is the detached part of the upper lip in the case of a bilateral cleft lip, often looking like a bubble of flesh.
Resonators- Cavities (i.e., mouth, nose, throat) that can be used to change the nature of speech sounds. Secondary Alveolar Repair- Bone graft surgery.
Secondary Surgery- Surgery done after primary surgery to improve appearance or to correct additional problems.
Sepsis- infection (septic-infected).
Speech Prosthesis- A device inserted into the mouth to achieve closure and aid in speech.
Submucous Cleft- A cleft affecting the muscles that attach in the middle of the soft palate, but not affecting the skin covering. A submucous cleft is often misdiagnosed because it is not visibly apparent except for a possible tiny cleft of the uvula.
Supernumerary- 1. Accessory 2. Exceeding a normal or fixed number.
Temporal- relating to the side of the head or temple.
Tracheoesophageal Fistula- an inborn abnormality. There is an abnormal tube like passage between the windpipe and the esophagus.
Tragus- The small projection of cartilage in front of the opening of the external ear.
Trigonocephalic- having a head shaped like a triangle.
Unilateral- one sided- of, on or affecting one side only.
Uvula- The "punching bag" in the back of the throat.
Velopharyngeal Closure- Made when the soft palate is raised to contact the back wall of the throat. Closure is necessary for speech, blowing, and swallowing.
Velopharyngeal Insufficiency- The condition in which the patient is unable to achieve closure between the mouth and nose because of a weakened or inadequately formed structure. Velum - The soft palate.
Vermillion- The dark pink tissue that makes up the lip.
Vertebral- of or having to do with vertebra or the vertebrae.