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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. - Read More
  • 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. - Read More
  • 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. - Read More
  • 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. - Read More
  • Astigmatism
    Visual defect caused by abnormal curvature of the cornea that results in a blurry image. - Read More
  • 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. - Read More
  • 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). - Read More
  • Blepharoptosis
    Drooping of the eyelid, either upper or lower. - Read More
  • Brachydactyly
    Abnormally short fingers - Read More
  • 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. - Read More
  • 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. - Read More
  • 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. - Read More
  • 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. - Read More
  • 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 - Read More
  • Choanae
    Funnel-shaped, posterior openings of the nose, just above and behind the hard palate. - Read More
  • 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. - Read More
  • 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). - Read More
  • 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. - Read More
  • Collagen
    Protein that forms the connective tissue of the body and gives tissue its structure. - Read More
  • Coloboma
    Slit or fissure in any part of the eye or eyelid caused by failure to form properly. - Read More
  • Coloboma
    Defect of some structure of the eye such as eyelid, iris, retina, choroid or optic nerve. - Read More
  • 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. - Read More
  • Congenital
    A condition that exists at birth. - Read More
  • 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. - Read More
  • 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. - Read More
  • 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 orRead more... - Read More
  • 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, orRead more... - Read More
  • 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, theRead more... - Read More
  • 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. - Read More
  • DiGeorge Sequence
    Children are born without the thymus and parathyroid glands, placing them at increased risk of infections, low blood calcium, and delayed development. - Read More
  • Distraction osteogenesis
    Incision and gradual separation with the use of a mechanical device to lengthen a bone, while new bone forms in the gap. - Read More
  • Embolization
    Treatment for some vascular abnormalities that involves the injection of material via a catheter (tube) into the center of the lesion. - Read More
  • Endothelial cells
    Cells that comprise the inner lining of blood and lymph vessels and other bodily structures. - Read More
  • Excision
    Removal of tissue by a surgical procedure. - Read More
  • Exophthalmos
    Bulging eye(s) caused by swollen surrounding soft tissue. - Read More
  • Exorbitism
    Bulging eye(s) caused by eye socket(s) that are too small or too shallow. - Read More
  • 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. - Read More
  • 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. - Read More
  • Gastrostomy
    Surgical procedure that enables children to be fed through a tube placed directly in the stomach. - Read More
  • Genioplasty
    Procedure to alter the appearance/position of the chin. - Read More
  • Glaucoma
    Disease marked by increased pressure in the eyeball that can result in gradual loss of vision. - Read More
  • Glossoptosis
    Condition in which the tongue is pushed toward the back of the throat, where it can block the airway. - Read More
  • Hard palate
    Bone that forms the anterior, or front portion, of the roof of the mouth. - Read More
  • 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. - Read More
  • 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. - Read More
  • Hematoma
    Blood in the tissues from a leak in the blood vessels. - Read More
  • 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. - Read More
  • High-resolution ultrasonography
    Technology using sound waves that enables doctors to obtain detailed, two-dimensional images of a developing fetus. - Read More
  • Hydrocephalus
    Abnormal accumulation of fluid that leads to enlargement of the head and causes pressure on the brain - Read More
  • 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. - Read More
  • 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. - Read More
  • 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. - Read More
  • Lesion
    Abnormal change in the structure of an organ due to a birth defect, injury, or disease. - Read More
  • Lymphatic Malformation (LM)
    Lymphatic malformation (LM) is an abnormality of lymph vessels. - Read More
  • Macrostomia
    Abnormally large-sized corner of the mouth resulting from the failure of lower facial tissues to fuse during embryonic development. - Read More
  • Malocclusion
    Abnormality in the way the teeth come together. - Read More
  • Mandible
    Lower jaw. - Read More
  • Mandibulafacial Dysostosis (MFD)
    Treacher Collins syndrome is an autosomal dominant congenital disorder characterized by craniofacial deformities, typically involving the ears, eyes, cheekbones, and jawbone. - Read More
  • Mandibular hypoplasia
    Underdevelopment of the lower jaw. - Read More
  • Maxilla
    Upper jaw. - Read More
  • 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. - Read More
  • Micrognathia
    Abnormally small jaw, especially the lower jaw - Read More
  • Microphthalmia
    Abnormally small eye, unilateral or bilateral.  An anatomic defect. - Read More
  • 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. - Read More
  • 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. - Read More
  • 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. - Read More
  • 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. - Read More
  • Myringostomy
    Insertion of a ventilation tube through the eardrum to draw fluid from the middle ear. - Read More
  • 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) - Read More
  • Occipital
    The back part of the head (occiput). - Read More
  • Orbital dystopia
    One eye is lower than the other. - Read More
  • Otitis media
    Infection of the middle ear. - Read More
  • Otolaryngologist
    Physician who specializes in disorders of the ear, nose, and throat. - Read More
  • 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. - Read More
  • 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. - Read More
  • 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. - Read More
  • Pinna
    Outer, visible portion of the ear; also called auricle. - Read More
  • 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. - Read More
  • 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. - Read More
  • Ptosis
    Sagging or drooping of a part of the body, for example, blepharoptosis means drooping of the upper eyelid. - Read More
  • Pyogenic granuloma
    Small growth filled with tiny blood vessels that can bleed easily. - Read More
  • Retrognathia
    Congenital or acquired condition in which the lower jaw is set back from the upper jaw. - Read More
  • 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). - Read More
  • 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. - Read More
  • 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. - Read More
  • 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. - Read More
  • 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. - Read More
  • Sclerotherapy
    Direct injection of an irritating solution into a vascular malformation to cause it to shrink - Read More
  • Scoliosis
    Abnormal curvature of the spine. - Read More
  • Septum
    Dividing membrane of cartilage between the nostrils. A deviated (or crooked) septum may cause difficulty with breathing or obstruct the sinuses. - Read More
  • Soft palate
    Tissue at the back of the mouth that moves during speech and separates the mouth from the top of the nasal cavity. - Read More
  • Sonogram
    Detailed image of a fetus taken by high-resolution ultrasonic equipment. - Read More
  • 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. - Read More
  • Strabismus
    Muscular condition in which the eyes do not move in unison. - Read More
  • 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. - Read More
  • 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. - Read More
  • Symphalangism
    Fusion of the finger and/or toe joints. - Read More
  • Syndactyly
    Webbing of the fingers and/or toes. - Read More
  • Syndrome
    Group of signs or symptoms in different parts of the body that occur together and make up a particular pattern or condition. - Read More
  • 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. - Read More
  • 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. - Read More
  • Telangiectasias
    Abnormal dilation (widening) of capillary vessels. - Read More
  • 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. - Read More
  • 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. - Read More
  • Tracheostomy
    The surgical creation of an opening in the windpipe through the neck to allow the passage of air. - Read More
  • Treacher Collins
    Underdeveloped structures on each side of the face, usually to the same degree. - Read More
  • 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. - Read More
  • 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. - Read More
  • Uvula
    Dangling tissue at the end of the soft palate. - Read More
  • Vascular Anomalies
    Abnormalities that occur in blood or lymph vessels. - Read More
  • 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. - Read More
  • 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. - Read More
  • Venous Malformation (VM)
    A Venous Malformation (VM) is a slow-flow anomaly (because it involves veins) that consists of enlarged, sponge-like channels. - Read More
  • Vesicle
    Tiny fluid-filled skin bubble. - Read More
  • 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. - Read More
  • 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. - Read More
  • Zygoma
    Cheekbone; the bony arch from the face to the head - Read More