November 17, 2011CleftsCraniofacial abnormalities: congenital malformations involving the head and face and affecting speechClefts: abnormal openings in anatomical structures necessary for speech in the oral tract (usually upper lip and soft palate); can also be when something does not closeVelopharyngeal inadequacy (VPI): velopharyngeal mechanism does not close adequately  air pressure cannot build up in oral tract  lots of articulation issues. Also affects swallowingClefts interfere with basic biological functioning (breathing, feeding) and communicationPhysical Challenges of Clefts Through the LifespanBirth (no surgery before 3 mos):Obstructed breathing— immediate medical attentionDifficulty with food intakeNo single feeding method is successful for infants with different types of clefts3 monthsClefts of the lip are surgically closedMonitored for middle ear infections9-12 monthsSurgeons close clefts of the hard and soft palate— has to do with physical development (additional growth of the neck and head has to occur before)First surgery at first year to minimize the impact of cleft on speech and language development. When structures can function properly, speech develops properlySecond surgery may be necessary later to treat difficulties with velopharyngeal closure2 yearsCorrection of dentitionLater orthodontic treatmentGenerally people can lead a fulfilling life after proper treatmentDevelopment of the Face and PalateFacial DevelopmentDuring the embryonic and fetal periods of life, humans are at a higher risk of death than any other period of life except extreme old age. Half of all conceptions are not recognized clinically, and approximately 15% of clinically recognized pregnancies result in miscarriages* Fig. 11.1 on page 3185-8 weeks gestation: face/anterior aspect of mouthMandibular processes: mandible/lower lip develops5th week: Frontonasal processes: Nasomedian processes and lateral nasal processesOlfactory pits: become the right and left nasal cavitiesNasal alae: flared portion of nostrilsMaxillary processes: maxilla and palatal shelves developTeratogens: chemical or environmental agents that produce congenital abnormalities  clefts of the lip are interruptedDevelopment of the secondary palate (structures that cover the oral tract— bony hard palate and soft palate)8-12 week gestation: processes of hard and soft palates fusePalatal shelves: wedge shaped tissue masses, grow downward from maxillary processesNasal septumClefts of the palate: fusion of the palatal shelf is interruptedCleft Lip and Palate Classification SystemsContemporary cleft palate classification systems are based on the embryological development of the face and palatal structuresVeau System (Table 11.1 on page 320)Quick general referenceNature and extent of cleftsKernahan’s Striped YVisual identification systemBased on locationSystem based by the ACPA focuses on primary and secondary palatesBased on anatomy and physiology of physical structures: location and which structure(s) is impactedClinical Features of CleftsClefts Commonly Classified as:1. Unilateral or bilateral cleft of the lip2. Unilateral cleft of the lip and palate3. Bilateral cleft of the lip and palate4. Submucous cleft: usually not detected until later; tissue covering a hollow hole— looks normal from the outside5. Bifid uvula: causes articulation issuesCleft of the LipInvolves vermilion of upper lip (vertical dent between lip and nose on normal person) and can extend to nostrilIncomplete cleft: some position of the vermilion is not closing on one side (V-shaped)Complete cleft: closure extends all the way up to oral cavity (continues through the upper lip into the floor of the nostril)Flattened nose, flaring nostrilColumella (strip of tissue that connect base of nose to tip of nose) short, misalignedMost commonly on the left side (unilateral) — do not know whyIf bilateral, usually cleft palate alsoIsolated cleft of the lip is rare (less than 5% of all cleft cases)Unilateral Cleft of the Lip and PalateUnilateral complete cleft of lip and palate extends: lack of fusion for areas that fall behind upper lip between upper gum and upper lip (external portion of upper lip, through alveolus, and through hard and soft palate)Clefts of secondary palate alone vary in severityBilateral Cleft of the Lip and PalateMost severe because of lack of tissue (nothing is there)— lip, teeth, and nose effectedFeatures:Lip and alveolar processes clefted under each nostrilAbnormal position of: prolabium (central portion of lip), alveolar process, premaxillaColumella usually absent: tip of nose attaches to lipNasal septum not attached to palatal shelvesSubmucous CleftCleft of the muscular region of the soft palateThin layer of mucosal tissue covers cleftMay not be detected until laterBifid uvula: uvula split in half (1 in 80 people)Zona pellucida: bluish color in the middle of soft palateNotch on posterior border of the hard palate can be feltVelopharyngeal incompetence— not connecting, no proper air flow restrictionEtiologies of CleftsGenetic Disorders: account for substantial percentage of cleftsSyndromes (combination of symptoms):Pierre Robin syndrome (Robin sequence): born with cranial facial abnormalities— micrognathia (underdeveloped mandible), retracted tongue structures, heart problems, missing toes and fingers, a lot of hearing lossTreacher Collins syndrome: malar hypoplasia (underdeveloped cheekbones, undeveloped mandible, malformation of the external ear and ear canal, conductive hearing loss, cleft palate, a projection of scalp hair onto the cheek)Velocardiofacial syndrome: have universal language deficits and learning disabilities in conjunction with palatal cleftSmall stature of with broad, flattened nose, underdeveloped cheekbones and heart problemsApert syndrome: craniosynostosis (premature closing of the structures of the skull that greatly disfigures forehead) and syndactyly ( webbing of the fingers and toes with bone fusion)Chromosomal AberrationsTrisomy 13: have an extra chromosome 13 (60-70% cleft lip with or without cleft palate; 1 in every 6,000 births)Multiple congenital abnormalitiesThalidomide caused thousands of birth defects, including clefting, in the 1960s when the drug was administered to pregnant women. As a result, the drug was outlawed for over 30 years. In 1998, the FDA approved its use for the treatment of certain serious conditions such as leprosy and some cancers associated with AIDSTeratogenically