Glossary of Terms and Conditions

Glossary of Terms and Conditions 2018-01-06T20:39:17+00:00
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  • Alveolar bone graft
    Procedure performed in children whose cleft involves the gum line. It provides a complete bony ridge that enables permanent teeth to grow normally in preparation for orthodontia.
  • Amniocentesis
    A procedure for obtaining a sample of amniotic fluid from the sac in the uterus of a pregnant woman by inserting a hollow needle through the abdominal wall. This is used for the diagnosis of certain genetic defects.
  • Apert syndrome
    Genetic disorder characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the cranial bones from growing normally and affects the shape of the head and face.  There is also abnormal fusion of joints of the fingers and toes.
  • Arteriovenous Malformation (AVM)
    A fast-flow anomaly composed of abnormal connections between arteries and veins. AVMs can expand and cause pain, skin breakdown, overgrowth of tissue, and rarely congestive heart failure. AVMs often require embolization (blockage by a catheter), followed by surgical resection.
  • Astigmatism
    Visual defect caused by abnormal curvature of the cornea that results in a blurry image.
  • Atresia
    Children with atresia do not hear well; usually their ears look abnormal. The ear canal, which carries sounds from the outside to the inner ear, is either closed or absent.  See Microtia.
  • Binder syndrome (nasomaxillary hypoplasia)
    Severe underdevelopment of the mid-face, flattening of the nose and absence of anterior nasal spine (support for the base of the nose).  There is a relative protrusion of the lower jaw. May be associated with chondrodysplaisa punctata (CDP).
  • Blepharoptosis
    Drooping of the eyelid, either upper or lower.
  • Brachydactyly
    Abnormally short fingers
  • Branchio-oculo-facial Syndrome (BOF)
    Rare birth defect characterized by low birth weight; an abnormal pit, opening, or skin abnormality behind both ears; distinctive malformations of the head and facial area; abnormalities of the eyes; and premature graying of the scalp hair in adolescence. Caused by a mutation in TFAP2A gene.
  • Branchio-oto-renal Syndrome (BOR)
    This genetic disorder includes malformations of the ear and cysts and sinus tracts in and near the neck, hearing loss, and malformations of the kidney.
  • Capillary Malformation (CM)
    Capillary malformation (CM) is a common vascular birthmark also known as a port-wine stain because of the pink/red/purple discoloration of the skin, consists of small blood vessels (capillaries) in the skin.
  • Carpenter Syndrome
    Very rare form of craniosynostosis (fewer than 40 cases have been reported to date), children develop an asymmetrical, tower-shaped head, a short neck, webbing between fingers and toes, and extra fingers.
  • CHARGE Syndrome
    Characterized by eye (coloboma), heart (ASD, VSD, valve anomalies), genital, and ear (hearing deficit) anomalies. Atresia choanae (blockage of the nasal cavities) and growth retardation. Caused by genetic mutation in CHD7 gene
  • Choanae
    Funnel-shaped, posterior openings of the nose, just above and behind the hard palate.
  • Chorionic
    A procedure for taking a small piece of placental tissue (chorionic villi) from the uterus in early pregnancy to check for the presence of genetic defects in the fetus. CVS can be performed through the cervix or the abdomen.
  • Cleft Lip
    Cleft lip is a gap in the skin and muscle between the nose and upper lip; often the gum ridge is also involved. There are several types of cleft lip, depending on which parts of the skin have joined. The cleft can be on one side (unilateral) or on both sides (bilateral).
  • Cleft Palate
    Failure of the roof of the mouth to close between weeks 8 to 12 of pregnancy, when bone and muscle grow in from both sides of the upper jaw to divide the mouth from the nose.
  • Collagen
    Protein that forms the connective tissue of the body and gives tissue its structure.
  • Coloboma
    Defect of some structure of the eye such as eyelid, iris, retina, choroid or optic nerve.
  • Combined Vascular Malformation
    Combined vascular malformations involve more than one type of vascular channel and tissue. Often these complex anomalies are associated with overgrowth of bone and soft tissues, usually in a limb or on the trunk of the body.
  • Congenital
    A condition that exists at birth.
  • Cranial sutures
    Seams that separate the bones of the head. As a child develops, the sutures normally separate to accommodate the enlarging brain, with bone filling in the gaps.
  • Craniosynostosis
    Craniosynostosis is the term for a group of conditions in which a baby's head develops abnormally because the seams between the bones close prematurely, preventing the head from developing normally and may be associated with changes in the upper facial bones.
  • Crouzon Syndrome
    This syndrome results from an underdevelopment of the bones in the middle third of the face and head. The child has a high, flat, prominent forehead and a head that is wider than usual; bulging eyes because of small eye sockets; strabismus, in which one eye tends to turn to the side or upwards rather than straight ahead; a smaller-than-normal upper jaw and protruding lower jaw; crowding of the teeth; a high, arched, narrow palate; and, in about half of children, hearing loss.
  • Dandy-Walker Malformation
    A condition characterized by a cyst in a portion of the brain known as the cerebellum, which is involved in coordinating the muscles and maintaining equilibrium. The cyst may interfere with the body's ability to drain fluid from the brain and spine, resulting in hydrocephalus, or enlargement of the head.
  • Deformational Plagiocephaly
    A condition in which a baby's head becomes flat on one side. If the condition is more obvious from the front, it is called deformational frontal plagiocephaly (DFP); if it involves the back of the head, it is called deformational posterior plagiocephaly (DPP). In some children, the condition affects the facial bones, while in others it does not.
  • Deformational Robin Sequence
    Also known as non-syndromic Robin Sequence. A condition that has been caused by intrauterine pressure distorting the normal development of the jaw.
  • DiGeorge Sequence
    Children are born without the thymus and parathyroid glands, placing them at increased risk of infections, low blood calcium, and delayed development.
  • Distraction osteogenesis
    Incision and gradual separation with the use of a mechanical device to lengthen a bone, while new bone forms in the gap.
  • Embolization
    Treatment for some vascular abnormalities that involves the injection of material via a catheter (tube) into the center of the lesion.
  • Endothelial cells
    Cells that comprise the inner lining of blood and lymph vessels and other bodily structures.
  • Excision
    Removal of tissue by a surgical procedure.
  • Exophthalmos
    Bulging eye(s) caused by swollen surrounding soft tissue.
  • Exorbitism
    Bulging eye(s) caused by eye socket(s) that are too small or too shallow.
  • First and Second Pharyngeal Arch Syndromes
    A variety of congenital syndromes affecting the face occur due to defects involving the first and second Branchial Arches.
  • Free Muscle Transplantation
    Surgical procedure performed on children with Mobius syndrome in which unaffected facial muscles are moved to areas of the face that are paralyzed.
  • Gastrostomy
    Surgical procedure that enables children to be fed through a tube placed directly in the stomach.
  • Genioplasty
    Procedure to alter the appearance/position of the chin.
  • Glaucoma
    Disease marked by increased pressure in the eyeball that can result in gradual loss of vision.
  • Glossoptosis
    Condition in which the tongue is pushed toward the back of the throat, where it can block the airway.
  • Hard palate
    Bone that forms the anterior, or front portion, of the roof of the mouth.
  • Head sutures
    The seams that separate the bones of the head. As a child develops, the sutures are normally pushed apart to accommodate the enlarging brain, with bone filling in the gaps.
  • Hemangiomas
    Hemangioma is the most common type of vascular birthmark resulting in a benign tumor of endothelial cells that form the inner lining of blood vessels.
  • Hematoma
    Blood in the tissues from a leak in the blood vessels.
  • Hemifacial Microsomia (HFM)
    Occurs when soft tissue and bone from the pharyngeal arches on one side of a child's face fails to develop fully. The result is that facial and jaw bones in the area are smaller than normal.
  • High-resolution ultrasonography
    Technology using sound waves that enables doctors to obtain detailed, two-dimensional images of a developing fetus.
  • Hydrocephalus
    Abnormal accumulation of fluid that leads to enlargement of the head and causes pressure on the brain
  • Hypoparathyroidism
    Lack of sufficient parathyroid hormone in the body, creating an imbalance of calcium that can lead to muscle problems including spasms, fatigue, and, in some cases, seizures.
  • Klippel-Feil anomaly
    Abnormal fusion of the cervical (neck) spine at the level of C2-3 or C4-5. which results in a fused appearance. Affected individuals appear to have a short neck, head tilt, low hairline and scoliosis.
  • Lamboid Synostosis
    Caused by fusion of the bones on the side and the back of the head. It results in a flattened area on the side of the synostosis; the back of the head shifts to the unaffected side; and the area near the ear (mastoid process) may bulge.
  • Lesion
    Abnormal change in the structure of an organ due to a birth defect, injury, or disease.
  • Lymphatic Malformation (LM)
    Lymphatic malformation (LM) is an abnormality of lymph vessels.
  • Macrostomia
    Abnormally large-sized corner of the mouth resulting from the failure of lower facial tissues to fuse during embryonic development.
  • Malocclusion
    Abnormality in the way the teeth come together.
  • Mandible
    Lower jaw.
  • Mandibulafacial Dysostosis (MFD)
    Treacher Collins syndrome is an autosomal dominant congenital disorder characterized by craniofacial deformities, typically involving the ears, eyes, cheekbones, and jawbone.
  • Mandibular hypoplasia
    Underdevelopment of the lower jaw.
  • Maxilla
    Upper jaw.
  • Metopic Synostosis
    Form of craniosynostosis results from a premature fusion between the two bones of the forehead. Children with this condition tend to have a triangular or keel-shaped forehead.
  • Micrognathia
    Abnormally small jaw, especially the lower jaw
  • Microphthalmia
    Abnormally small eye, unilateral or bilateral.  An anatomic defect.
  • Microtia
    Children with microtia do not hear well and have ears that may look abnormal. The outer, visible portion of the ear (the pinna or auricle) is underdeveloped.
  • Miller Syndrome
    A very rare condition, also known as Miller or Wildervanck-Smith syndrome, with characteristics that include underdeveloped cheekbones, an abnormally small jaw, a cleft palate, small, protruding "cup-shaped" ears, and drooping of the lower eyelids.
  • Mitral Valve Prolapse
    Heart problem that occurs when the mitral valve closes and protrudes into the adjacent heart chamber. This sometimes occurs in children with Stickler syndrome.
  • Möbius Syndrome
    Möbius syndrome is an extremely rare congenital neurological disorder which is characterized by facial paralysis and the inability to move the eyes from side to side.
  • Myringostomy
    Insertion of a ventilation tube through the eardrum to draw fluid from the middle ear.
  • Nager Syndrome
    Nager syndrome is a rare condition that mainly affects the development of the face, hands, and arms. Children with Nager syndrome are born with underdeveloped cheek bones (malar hypoplasia) and a very small lower jaw (micrognathia)
  • Occipital
    The back part of the head (occiput).
  • Orbital dystopia
    One eye is lower than the other.
  • Otitis media
    Infection of the middle ear.
  • Otolaryngologist
    Physician who specializes in disorders of the ear, nose, and throat.
  • Pfeiffer Syndrome
    Pfeiffer syndrome is a genetic disorder characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face. Pfeiffer syndrome also affects bones in the hands and feet.
  • Pharyngeal arch
    Tissues that grow toward each other from the sides of a fetal head and fuse at the centerline of the head and neck. Also called visceral arch, or branchial arch.
  • Pharyngeal flap
    Procedure performed in about 10 - 15 percent of children with a cleft palate in order to correct nasal speech.  It is usually done when a child is four or five years old.
  • Pinna
    Outer, visible portion of the ear; also called auricle.
  • Plagiocephaly
    A “slanted or flat head”.  It can be caused by abnormal sutural fusion = “synostotic plagiocephaly”, BUT MOST COMMONLY caused by abnormal positioning of the baby’s head, called “deformational plagiocephaly”.  This is treated by physical therapy, positioning, and sometimes a molding helmet.
  • Proptosis
    Bulging of the eye from the bony orbit, unilateral or bilateral, related to a shallow orbit. Associated with Crouzon, Apert, Pfeiffer, and other craniofacial syndromes.
  • Ptosis
    Sagging or drooping of a part of the body, for example, blepharoptosis means drooping of the upper eyelid.
  • Pyogenic granuloma
    Small growth filled with tiny blood vessels that can bleed easily.
  • Retrognathia
    Congenital or acquired condition in which the lower jaw is set back from the upper jaw.
  • Robin Sequence
    Robin sequence or Pierre Robin syndrome begins with a lower jaw that is either too small (micrognathia) or is set back from the upper jaw (retrognathia).
  • Robin Sequence and Associated Syndromes
    Robin sequence begins with a lower jaw that is either too small or is set back from the upper jaw. This causes the tongue to be pushed backward in the throat, where it can flop back and block the airway. Most infants with Robin sequence also have a cleft palate.
  • Saethre-Chotzen Syndrome
    Genetic condition characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face.
  • Sagital Synostosis
    Form of Craniosynostosis results from a premature fusion of the bones along the middle seam at the very top of the head. Children with this condition tend to have a long head that is narrowed from side to side.
  • Scaphocephaly
    Form of craniosynostis that results from a premature fusion of the bones along the middle seam at the very top of the head. Children with this condition tend to have a long head that is narrowed from side to side.
  • Sclerotherapy
    Direct injection of an irritating solution into a vascular malformation to cause it to shrink
  • Scoliosis
    Abnormal curvature of the spine.
  • Septum
    Dividing membrane of cartilage between the nostrils. A deviated (or crooked) septum may cause difficulty with breathing or obstruct the sinuses.
  • Soft palate
    Tissue at the back of the mouth that moves during speech and separates the mouth from the top of the nasal cavity.
  • Sonogram
    Detailed image of a fetus taken by high-resolution ultrasonic equipment.
  • Stickler Syndrome
    Stickler syndrome is the basis for about 40 percent of infants with Robin sequence. It is a disorder of the body's collagen -- the tissue that connects the bones, heart, eyes, and ears. It generally occurs in infants with no family history of the condition.
  • Strabismus
    Muscular condition in which the eyes do not move in unison.
  • Strip craniectomy
    Corrective surgical procedure performed on children with craniosynostosis. It involves removing a plate of bone at the top of the head to enable the head to develop more normally.
  • Sudden Infant Death Syndrome (SIDS)
    Death of an apparently healthy infant, usually before one year of age and usually during sleep. The cause is unknown.
  • Symphalangism
    Fusion of the finger and/or toe joints.
  • Syndactyly
    Webbing of the fingers and/or toes.
  • Syndrome
    Group of signs or symptoms in different parts of the body that occur together and make up a particular pattern or condition.
  • Synostic Frontal Plagiocephaly
    Premature closure of the spaces between bones on one side of the head that causes a child's forehead to become flattened, an elevated and widened eye, tilting of the nose, and a slightly forward cheek on the same side.
  • Synostic Posterior Plagiocephaly
    Very rare condition caused by fusion of the bones on the side and the back of the head. It results in a flattened area on the side of the synostosis; the back of the head shifts to the unaffected side; and the area near the ear (mastoid process) may bulge.
  • Telangiectasias
    Abnormal dilation (widening) of capillary vessels.
  • Torticollis
    Contraction or tightness of muscles in the neck that causes the head to be drawn to one side and rotated so the chin points to the other side.
  • Townes-Brocks Syndrome
    An extremely rare condition in which children have two or more of the following problems: malformations of the anus, hand deformities, external ear abnormalities, and nerve-related deafness.
  • Tracheostomy
    The surgical creation of an opening in the windpipe through the neck to allow the passage of air.
  • Treacher Collins
    Underdeveloped structures on each side of the face, usually to the same degree.
  • Trigonocephaly
    Form of Craniosynostosis results from a premature fusion between the two bones of the forehead. Children with this condition tend to have a triangular or keel-shaped forehead.
  • Unilateral Coronal Synostosis
    Form of Craniosynostosi where a premature closure of the spaces between bones on one side of the head causes a child's forehead to become flattened, an elevated and widened eye, tilting of the nose, and a slightly forward cheek on the same side.
  • Uvula
    Dangling tissue at the end of the soft palate.
  • Vascular Anomalies
    Abnormalities that occur in blood or lymph vessels.
  • Vascular Malformations
    Vascular malformations form when the channels that carry blood or lymph do not develop properly before birth. They usually grow as a child grows, and they don't go away without treatment.
  • Velocardiofacial Syndrome (VCFS, 22q11 Deletion Syndrome)
    Velocardiofacial syndrome (VCFS or 22q11 Deletion Syndrome) is a genetic condition characterized by abnormal pharyngeal arch development that results in defective development of the parathyroid glands, thymus, and conotruncal region of the heart.
  • Venous Malformation (VM)
    A Venous Malformation (VM) is a slow-flow anomaly (because it involves veins) that consists of enlarged, sponge-like channels.
  • Vesicle
    Tiny fluid-filled skin bubble.
  • Visceral Arch Syndrome
    Congenital defects caused by a failure of neural crest cells to migrate into the first pharyngeal arch which can produce facial anomalies. Examples of first arch syndromes include Treacher Collins syndrome and Pierre Robin syndrome.
  • Visceral arches
    Visceral arches are pieces of cartilages or bones that support the pharyngeal region of vertebrates and also help attach the jaws with the skull.
  • Zygoma
    Cheekbone; the bony arch from the face to the head