Commonly Treated Conditions
Clefts
Isolated Cleft Lip and Palate
Cleft lip is the fourth most frequent birth defect, and the most common congenital facial defect. One of every 700 newborns is affected by cleft lip and/or cleft palate. Cleft lip can also be associated with a cleft palate.
A cleft lip is a separation of the two sides of the lip. The separation often includes the bones of the upper jaw and/or upper gum. A cleft palate is an opening in the roof of the mouth in which the two sides of the palate did not fuse, or join together, as the unborn baby was developing. Cleft lip and cleft palate can occur on one side (unilateral cleft lip and/or palate), or on both sides (bilateral cleft lip and/or palate). Because the lip and the palate develop separately, it is possible for the child to have a cleft lip, a cleft palate, or both cleft lip and cleft palate.
Cleft lip and cleft palate are congenital defects, or birth defects, which occur very early in pregnancy. The majority of clefts appear to be due to a combination of genetics and environmental factors. The risks of recurrence of a cleft condition are dependent upon many factors, including the number of affected persons in the family, the closeness of affected relatives, the race and sex of all affected persons, and the severity of the clefts.
A child born with a cleft frequently requires several different types of services, e.g., surgery, dental/orthodontic care, and speech therapy, all of which need to be provided in a coordinated manner over a period of years. This coordinated care is provided by interdisciplinary cleft palate/craniofacial teams comprised of professionals from a variety of health care disciplines who work together on the child's total rehabilitation.
Cleft palate can be isolated or a part of several craniofacial syndromes. The occurrence is typically multifactorial and like the cleft lip, is surgically repaired within the first year of life.
To view progressive stages of an incomplete cleft lip click here.*
To view a complete cleft lip click here. *
To view before and after images of a unilateral cleft lip click here.*
*The wounds shown here are intended for medical purposes and are graphic in nature.
Syndromic Cleft Lip or Palate
Van der Woude Syndrome: This syndrome commonly exhibits characteristics that include lower lip pits, hearing loss, missing teeth, cleft lip with or without cleft palate, and a cleft uvula. Van der Woude syndrome is an autosomal dominant disorder, which means 50% of any future children of these parents, or the child, may have this syndrome. This syndrome is commonly treated by repairing the cleft lip and/or palate by one year of age, and excising the lip pits.
Velocardiofacial Syndrome: This syndrome commonly exhibits characteristics that include short stature, hearing loss, soft palate cleft, hypoplastic midface, long face, retruded mandible with a chin deficiency, hyperextensible hands and cardiac defects. Velocardiofacial syndrome is an autosomal dominant disorder. Treatment for this syndrome requires that each abnormality receive individualized treatment. Traditionally, the best speech outcome is obtained by repairing the cleft palate within the first year of life.
Pierre Robin Syndrome: This syndrome commonly exhibits characteristics that include airway problems secondary to a small lower jaw, and a tongue that frequently falls back blocking the airway and a soft palate cleft. Pierre Robin syndrome occurs in otherwise healthy children, but may occur in association with other craniofacial syndromes. This syndrome’s treatment is initially focused on airway protection and may require a lip adhesion, tracheostomy, or mandibular distraction. Once the airway is secured, the palate can be repaired by one year of age to maximize speech outcome.
Craniofacial Clefts
There are more than 14 facial clefting patterns, which were first described by Dr. Paul Tessier in Paris, France. Their occurrence is usually sporadic. The treatment involves the correction of both soft tissue and underlying bony deficiencies. The soft tissue closure is completed early in infancy while the bony reconstruction is performed once the child is a little older.
Craniosynostosis
* To view the dynamic spring mediated cranioplasty procedure click here .
* To view before and after pictures of a child treated with spring mediated cranioplasty click here .
* To view the cranial vault reconstruction procedure click here.
*The wounds shown here are intended for medical purposes and are graphic in nature.
Description of Procedure:
Craniosynostosis is the premature closure of one or more cranial sutures that causes cranial asymmetry. This occurs in about one in 3,000 births as an isolated problem, and is considered a sporadic occurrence. If craniosynostosis is part of a syndrome, it is usually an autosomal dominant inheritance pattern. Craniosynostosis can be a developmental problem if not treated in a timely fashion. Treatment involves cranial reconstructive surgery within the first year of life.
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Positional Plagiocephaly
In 1992, the American Academy of Pediatrics released their recommendations for placing infants to sleep in the supine position to reduce the risk of SIDS. Since the recommendation was made, the incident rate of misshapen heads from compressive forces has increased dramatically. Currently one in every 70 infants is affected by some degree. By using a soft-shell, passive-molding helmet for between 3 to 6 months, the problem can be corrected. It is very important to diagnose this early, before the soft spot on the head closes, for the helmet therapy to be effective.
Craniofacial Syndromes
Apert Syndrome: This syndrome commonly exhibits characteristics including a high and full looking forehead, a flattened occiput, coronal craniosynostosis, shallow orbits, widely spaced eyes, visual problems, small nose and flattened midface. Syndactyly (webbed fingers) are also common. Apert’s Syndrome follows an autosomal dominant inheritance pattern. The treatment consists of staged craniofacial reconstruction, midface advancement and repair of the syndactyly.
Crouzon Syndrome: This syndrome commonly exhibits characteristics including bulging eyes secondary to shallow orbits, widely spaced eyes, a prominent forehead, visual disturbances, a small midface, variable hearing loss, and premature fusion of multiple skull sutures. Crouzon’s syndrome is an autosomal dominant disorder with variable expression. Treatment for the syndrome traditionally stages surgery, with the initial cranial reconstruction typically taking place at less than one year of age.
Goldenhar Syndrome: Characteristics of this syndrome include a small midface and mandible, a lateral mouth cleft, weak facial muscles, external ear abnormalities, variable hearing loss, abnormal function of the tongue and palatal muscles and hypoplastic vertebrae. This is the bilateral manifestation of hemifacial microsomia. A genetic cause has not been identified. It is believed that most cases occur because of an unknown event that disrupts the normal development of the ear and jaw in early embryonic life. Surgery is needed for advancement of the midface and mandible. Also, the mouth cleft and ears are reconstructed within the first few years of life.
Hallerman Streiff Syndrome: This is a rare syndrome that includes dental, ear, eye and soft tissue abnormalities. Hallerman Streiff syndrome is transmitted as an autosomal recessive trait. The primary initial focus in treatment should be detecting any cardiac and visual abnormalities. As the child grows, dental issues will need to be addressed, and specific treatment will depend on the components of the syndrome that the child exhibits.
Hemifacial Microsomia: The characteristics, cause and treatments are similar to those associated with Goldenhar Syndrome, except hemifacial microsomia involves only one side of the face.
Moebius Syndrome: This syndrome exhibits characteristics that include an expressionless or mask-like facial appearance with a bilateral loss of facial nerve function. There is no known genetic link for Moebius syndrome. It is most often a sporadic event. Treatment commonly includes the use of gold weights to assist with eye closure and nerve and muscle grafting as indicated.
Pfeiffer Syndrome: This syndrome commonly exhibits characteristics including a flat face, premature cranial suture fusion, widely spaced eyes, a small nose, broad thumbs and great toes and syndactyly (webbed fingers). Pfeiffer syndrome has an autosomal dominant inheritance pattern. Treatment usually consists of cranial reconstruction, midface advancement, and repair of the finger skin bridges.
Saethre-Chotzen Syndrome: This syndrome is a primary disturbance in cranial development, which includes craniosynostosis, thickened skull, flattened forehead, shallow orbits, and widely spaced eyes. Other common characteristics include fingers and toes with webbed skin, the hand typically has a single upper palmar crease, the thumbs can be flattened and appear finger like, and the elbow can have only limited extension. Saethre-Chotzen syndrome has an autosomal dominant inheritance pattern. The treatment traditionally addresses the cranial and extremity deformities, depending on the amount of involvement.
Stickler Syndrome: This syndrome commonly exhibits characteristics including flattened facies with a depressed nose, prominent eyes, midface and mandibular hypoplasia, palatal clefts, a Pierre Robin sequence, deafness, dental abnormalities, hypotonia, hyperextensible joints, hip subluxation, and joint problems. Stickler syndrome has an autosomal dominant inheritance pattern. Typically, by age one the clefts are repaired. Midface and mandibular advancements are done later in childhood.
Treacher Collins Syndrome: The clinical characteristics for this syndrome includes a small midface, lower eyelid defects, and external ear abnormalities. Small mandibles may cause early airway problems. Treacher Collins syndrome has an inheritance pattern that is autosomal dominant. Treatment typically includes airway management, ear reconstruction, and midface and mandibular advancement.
Congenital Ear Deformities
Microtia: Ear abnormalities most often occur as a part of a syndrome, but do also occur in isolation. There is a range in the level of involvement from a simple skin tag to complete absence of the ear. Should a large portion of the ear require reconstruction, there is often two to three surgical stages performed using rib cartilage. The typical age for initiating surgery of this type is around 6 to 7 years of age.
Vascular Anomalies
Hemangioma: One in every 700 newborns is diagnosed with a hemangioma, with 10% to 12% of Caucasian children having some form of it by the age of one.
Child with hemangioma |
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Females are five times more likely to have a hemangioma than males, and low birth weight infants (weighing less than 2.2 lbs.) are 26 times more like to develop one. Hemangiomas are rarely full size at birth, and the actual cause is unknown. The clinical stages involve a rapid proliferation (growth), stabilization and the involution stage where they begin a slow regression. A majority of hemangiomas can simply be observed. Those requiring treatment early on are secondary to complications from the hemangioma itself such as bleeding, obstruction, and infection. Treatment may include excision, steroids, laser surgery, and interferon.
Vascular Malformations: The exact cause is unknown, but they are known to occur less frequently than hemangiomas. Vascular malformations are named for the type of blood vessel that predominates the growth. Examples of common malformations include capillary malformations (port-wine stains), venous malformations or lymphatic malformations. An accurate diagnosis is imperative, as it affects treatment. Treatment is not always required on vascular malformations, but should intervention be necessary, resection and reconstruction are common.
Soft Tissue Tumors
Nevus: A nevus, usually a brown patch of skin, is a lesion that may be present at birth. If the nevus were located in an area that is at risk for sun exposure, or is large in size, excision is recommended. If the nevus is too large for simple excision, tissue expansion to recruit additional tissue may be needed to allow for an excision to be possible.
Malignancy of the Head and Neck Region:
Head and neck tumors are rare in childhood, but usually necessitates a wide resection with reconstruction. Adjuvant therapy may also be needed for optimal results.
Pediatric Traumatic Deformities
Trauma is a frequent problem in the pediatric population. To best utilize the natural rapid healing seen in children, repairs need to be done in an expedient fashion. Early treatment helps decrease permanent scarring and minimizes secondary growth disturbances.
Glossary of Terms
Alveolar Ridge -- The bony ridge of the gumline containing the teeth.
Anesthesia -- Drugs provided during a surgical or dental operation that put the child to sleep.
Articulation -- Movements of the mouth and airway that produce speech.
Articulation Test -- An evaluation which provides information about how speech sounds are formed.
Audiogram -- A record of hearing levels or sensitivity.
Audiologist -- A person with a degree, license, and certification in audiology (science of hearing) who measures hearing, identifies hearing loss, and participates in rehabilitation of hearing impairment.
Columella -- The central, lower portion of the nose which divides the nostrils into right and left.
Communication Disorder -- An interference with a person's ability to comprehend others or express themselves (usually in verbal form).
Comprehension -- Knowledge or understanding of spoken or written language.
Congenital -- A disease, deformity, or deficiency existing at the time of birth.
Consonant -- Every letter sound except a,e,i,o,u.
Craniofacial Anomaly -- A visible, structural and/or functional difference affecting the head (cranium) and/or face.
Crossbite -- A dental condition where the upper teeth are behind the lower teeth rather than in front of them.
Crouzon Syndrome (Craniofacial Dysostosis) -- See Fact Sheet.
Denasality -- The quality of voice that lacks normal nasal resonance for /m /n/ ng ("head cold" sound).
Dental Arch -- The curved structure formed by the teeth in their normal position.
Dental Extraction -- Dental procedures performed to remove damaged, malformed, or malpositioned teeth.
Dental Restoration -- Dental procedures performed to repair or correct damaged, malformed, or missing teeth.
Eardrum -- Tympanic membrane which vibrates and transmits sound to the middle ear.
E.N.T. -- The abbreviation for ear, nose, and throat.
Eustachian Tube -- The air duct which connects the nasopharynx (back of the throat) with the middle ear; usually closed at one end, opens with yawning and swallowing; allows ventilation of the middle ear cavity and equalization of pressure on two sides of the eardrum.
Evaluation -- Assessment, test.
Expressive Language -- Communication of one's ideas, desires, or intentions to others, usually through speech or printed words.
Fistula -- An abnormal opening, usually referring to a hole in the palate after repair.
Genetics -- The science of heredity (how things pass from one generation to the next).
Hard Palate -- The front part of the roof of the mouth containing bone covered by mucosa (pink "skin").
Hearing Impairment -- A loss in hearing which may range from mild loss to complete deafness.
Heredity -- The total of the physical characteristics, abilities, and potentialities genetically derived from one's ancestors.
Hypernasality -- Speech that sounds overly "nasal," as if the person is "talking through his/her nose."
Hyponasality -- Denasality. A lack of normal nasal resonance during speech.
Language Disorder or Impairment -- Inability to communicate normally and effectively due to problems with comprehension or expression of language.
Malocclusion -- A deviation from normal occlusion, that is, incorrect positioning of the upper teeth in relation to the lower teeth.
Mandible -- The lower jaw.
Maxilla -- The upper jaw.
Middle Ear -- The portion of the ear behind the eardrum. It contains three small bones which transfer sound from the eardrum to the inner ear.
Myringotomy -- A minor surgical procedure in which a small slit is made in the ear-drum to allow fluid to drain from the middle ear.
Multidisciplinary Team -- A group of professionals who work together to help plan and carry out treatment for patients with cleft lip, cleft palate, and related disorders. The group usually includes surgeons, dental specialists, speech pathologist, and others who meet regularly to evaluate and discuss the patients under their care.
Nasal Emission or Nasal Escape -- An abnormal flow of air through the nose during speech. Usually indicative of an incomplete seal between oral and nasal cavities.
Nasal Septum -- The "wall" that divides the nose into right and left halves. It normally joins the roof of the hard palate like an "inverted 7."
Nasopharyngoscope -- A lighted telescopic instrument used for examining the passages in the back of the throat. Useful in assessing velopharyngeal function.
Occlusion -- Relationship between upper and lower teeth when they are in contact. Refers to the alignment of teeth as well as relationship of dental arches.
Oral Cavity -- The mouth bounded by the teeth in front and the soft palate at the back.
Oral Hygiene -- Care of the teeth and gums which is performed at home on a daily basis. This is performed first by the child's parent or guardian while the child is small and eventually by the child under continued supervision of the parent or guardian.
Oral-Maxillo Facial Surgery -- The specialty of dentistry concerned with management of dental and skeletal deformities.
Orofacial -- Relating to the mouth and face.
Orthodontics -- The specialty of dentistry concerned with the correction and prevention of irregularities and malocclusion of the teeth and jaws.
Orthodontic Care -- Dental visits designed to move the teeth into better alignment with one another to improve chewing, oral hygiene, and appearance.
Otitis Media -- Inflammation of the middle ear with accumulation of thick, mucous-like fluid - Ear infection.
Otolaryngologist -- An "ear, nose and throat" physician specializing in the diagnosis and management of head and neck disorders.
Palatal Insufficiency -- A lack or shortness of tissue preventing the soft palate from contacting the back of the throat (pharynx).
Palate -- The roof of the mouth including the front portion, or hard palate, and the back portion, or the soft palate (also called the velum).
Pediatrician -- A physician specializing in treatment of children.
Pediatric Dentistry -- The specialty of dentistry concerned with the care of children's teeth.
Pharyngeal Flap -- Surgical procedure designed to minimize hypernasality. A flap of skin creates a "bridge" between the soft palate and the back of the throat
Philtral Columns -- Normal ridges in the skin of the central upper lip connecting the peaks of the Cupid's bow to the back of the nose.
Pierre Robin Sequence -- See Fact Sheet.
Premaxilla -- The small bone in the upper jaw which contains the upper four front teeth.
Normally connected with the side segments of the upper jaw (maxilla) but separated in some clefts.
Preventative Dental Care -- Regular dental visits during which teeth are checked for cavities and cleaned.
Prolabium -- The central area of the upper lip beneath the center of the nose (columella) and between the philtral columns.
Prosthesis -- An artificial substitute for a missing body part.
Prosthetic Speech Aid -- A removable plastic appliance which provides a structural means of achieving velopharyngeal closure (separating the nose from the mouth).
Prosthodontist -- A dentist who specializes in providing prosthetic appliances for oral structures.
Psychologist -- An individual with the necessary academic training and experience to be licensed to practice psychology as a profession.
Radiography -- Photographic film or plate depicting images of internal body parts. X-ray.
Resonance -- Vocal quality associated with the vibration of air in the oral and nasal cavities.
Soft Palate -- The back part of the roof of the mouth containing muscles and mucosa (pink "skin"). The Latin name for the soft palate is "velum".
Speech-Language Pathologist -- An individual with the necessary academic training and experience to be certified or licensed to diagnose and treat disorders of speech, language, and communication.
Speech Defect -- Deviation of speech from the range of normal.
Speech Videofluoroscopy -- A tape recorded x-ray examination of the speech mechanism during function, focusing on the soft palate (velum) and walls of the throat (pharynx). Useful in assessing velopharyngeal function.
Sphincter Pharyngoplasty -- Surgical procedure designed to minimize hypernasality.
Submucous Clefts -- See Fact Sheet.
Surgery -- One of several medical specialties focused on the restoration and repair of various external defects.
Treacher Collins Syndrome (Mandibulofacial Dysostosis) -- See Fact Sheet.
Uvula -- Small, cone-shaped muscular process hanging at the back of the soft palate.
Velopharyngeal Closure -- The closing of the nasal cavity from the oral cavity which directs air used in speech through the mouth rather than the nose. It requires interaction of the muscles in the palate and the back of the throat.
Velopharyngeal Incompetence -- Inability to achieve adequate velopharyngeal closure despite structures that may appear normal.
Velopharyngeal Insufficiency -- A structural or functional disorder resulting in the inability to achieve adequate separation of the nasal and oral cavities.
Velum -- The Latin name for the soft palate.
Voice Disorder -- Speech problems such as hoarseness, low speaking volume, or strained voice quality.