Cleft Lip and Cleft Palate

Birth Defects Malformations Deformations Disruptions alterations in normal development Deformations abnormal mechanical force on an otherwise normal fetus Disruptions disruption of an otherwise normal developmental process

Introduction A TEAM APPROACH IS REQUIRED Pediatrician Surgeon OMFS Dentist ENT Psychiatrist Speech Nurse coordinator

Introduction The term cleft lip and palate is commonly used to represent two types of malformations, i.e. cleft lip with or without cleft palate (CL/P) and cleft palate (CP). Most common craniofacial malformation Asian populations have the highest frequency.

Definitions Cleft Lip: It is also called HARELIP. results in a unilateral or bilateral opening in the upper lip between the mouth and the nose. It is also called HARELIP.

Definitions CLEFT PALATE: It is birth defect characterized by opening in the roof of the mouth caused by lack of tissue development.

Embryology of Cleft Lip Weeks 4-7 frontonasal,maxillary, and mandibular processes form the face

Cleft Lip Complete closure at 35 days postconception: 7 wks from the LMP. Lateral nasal, median nasal, and maxillary mesodermal processes merge. Failure of closure can produce unilateral, bilateral, or median lip clefting.

Cleft Palate Lack of fusion of the palatal shelves. Abnormalities in programmed cell death may contribute to lack of palatal fusion(?). Isolated disruption of palate shelves can occur after closure of the lip Palatal closure is not completed until 9 weeks post-conception.

Etiology Heredity Environmental factors AD,AR, X- linked Maternal alcohol consumption Maternal cigarette smoking Folic acid defieciency Corticosteroids Anticonvulsant therapy

Genes Control cell patterning, cell proliferation, extracellular communication, and differentiation Clefting usually represents a genetically complex event Single Mendelian disorders associated with clefting are rare 2 to 20 genes are thought to interact to result in facial clefting

Genes Numerous studies of this type have found significant association to Transforming Growth Factor-alpha (TGFA) Transforming Growth Factor-beta 3 (TGFB3) Retinoic acid receptor-alpha (RARA) Homeobox gene MSX1 BCL3 proto-oncogene loci.

Genes 43% pairwise concordance rate in monozygotic twins 5% concordance in dizygotic twins

Genetics Unaffected parents who have If one parent is affected, one child with cleft lip/palate have an estimated recurrence risk of 4%, which rises to 9% with two affected children If one parent is affected, the risk of having a child with cleft lip/palate is also 4% increasing to 17% if there is already both an affected parent and an affected child

Genetics As the degree of familial relationship increases, recurrence risk decreases First-degree relatives 4% Second-degree relatives 0.7% Third-degree relatives 0.3% Recurrence risk increases with the severity of the cleft

Rollnick and Pruzansky identified other malformations in 35% of cleft lip/palate patients 54% of cleft palate patients. Boy > girl (CLCP) , Girl > Boy (CP) Left > Right

Anticonvulsant Therapy Medications —phenytoin, sodium valproate, methotrexate. Corticosteroids there is no evidence of an increase in malformations. Possible association could not be excluded

Smoking and Alcohol Cigarette smoking Alcohol Noted with mothers of children with facial clefting, both CL/P and CP. Teratogenesis has been attributed to hypoxia as well as a component of tobacco (cadmium). Alcohol Associated with an increased risk of fetal facial clefting. Alterations in cell membrane fluidity or reduced activity of specific enzymes such as superoxide dismutase.

Folate deficiency Contributes to a range of birth defects. Evidence is emerging for a similar association with the development of CL/P.

Racial Differences Cleft lip with or without cleft palate at birth (CL, CLP) Racial group In 1,000 live births Native Americans 3.6 Japanese 2.1 Chinese 1.7 Whites 1.0 Blacks 0.3

Prevalence of Cleft Lip & Palate Author Prevalence Years Country Rintala, 1986 1.74 1948-1975 Finland Tolarova, 1998 0.97 1974-1988 Israel Druschel, 1996 1.30 1983-1990 USA Vanderas, 1987 2.68 1948-1954 Japan Stoll, 2000 1.9 1974-1996 France Cooper, 2000 1.2 1980-1989 China Iregbulem, 1982 0.37 1976-1980 Nigeria

Frequency Majority of CL/Ps are isolated Majority of CPs are syndromic 6:3:1 Unilateral left to Unilateral right to Bilateral 2:1 CL/P male to female CP female to male 1.5-3:1 CL/P to CL 21% to 46% to 33% CL to CL/P to CP Majority of CL/Ps are isolated Majority of CPs are syndromic (McCarthy)

Predicted Occurrence (McCarthy) CL/P P One sibling affected 4 2 One parent affected 6 One sibling and one parent affected 17 15 Two siblings affected 9 1 One sibling plus family history 7 (McCarthy)

Prenatal Diagnosis Diagnosed until the soft tissues of the fetal face can be clearly visualized sonographically (13 to 14 weeks). The majority of infants with cleft lip also have palatal involvement: 85% of bilateral cleft lips 70% associated with cleft palate. Cleft palate with an intact lip comprises 27% of isolated CL/P

Detection of Cleft Lip: Ultrasound

Prenatal Diagnosis

Prenatal Diagnosis at 12 weeks

Symptoms Eating and drinking is difficult due to regurgitation of food and liquid through the nose. Speech problem is serious and tends to increase due to mental trauma. Defect in smelling It is due to the contamination of the nasal mucous membrane with the oral organism through the cleft palate

Symptoms Airway problems may arise in children with cleft palates,especially those with concomitant structural or functional anomalies Ear infection and respiratory tract infection

Symptoms Teeth ASSOCIATED ANOMALIES: The alveolar cleft interferes with the dental lamina and the upper lateral incisors may be small, absent or even duplicate. ASSOCIATED ANOMALIES: Congenital heart disease,polydactyly and syndactyly, hydrocephalus, microcephalus, supernumerary ear, spina bifida and mental deficiency.

Otitis Media Develops within first month of life. Frequency decreases with increasing age. Due to abnormalities of cartilage and muscles surrounding the eustachian tube

DEFINITIONS The primary palate consists of : premaxilla : anterior septum : soft tissues of the lip The secondary palate is separated from the primary palate by the incisive foramen

DEFINITIONS The secondary palate consists of the structures posterior (dorsal) to the incisive foramen, including : the remaining hard palate : the soft palate : the uvula

Anatomy

MORPHOLOGIC VARIETIES OF LABIAL CLEFTS Berkowitz : variations observed in cleft lip and palate anatomy may segregate into four general categories: 1. Clefts involving the lip and alveolus 2. Clefts involving the primary palate (lip) and secondary palate 3. Clefts in which only the secondary palate is affected 4. Clefts involving congenital insufficiency of the palate (non-cleft-related velopharyngeal dysfunction, submucous cleft palate)

Anatomy

Clefts Involving the Lip and Alveolus

Microform Cleft Lip The microform cleft lip variation has three components, although not all components need be present for the diagnosis to be established: small vermilion notch visible band of fibrous tissue extending from the edges of the red lip to the nostril floor irregularity of the ala on the side of the notch or band

Microform Cleft Lip

Unilateral Incomplete Cleft Lip and Cleft Alveolus Incomplete labial clefts may run all the way from the vermilion free border to the nose Sparing only a thin band of soft tissue (Simonart band) The bridge of tissue connecting the medial and lateral lip elements contains only : mucous membrane : skin : fibrous connective tissue

Unilateral Incomplete Cleft Lip and Cleft Alveolus Complete diastasis of the orbicularis oris muscle. The alveolar ridge may show partial expression of the clefting process with a notch. Alveolar notching may cause minor dental crossbite, but bone grafting at a later time is often unnecessary in these cases.

The orbicularis oris muscle

Unilateral Incomplete Cleft Lip and Cleft Alveolus

Unilateral Complete Cleft Lip and Cleft Alveolus Complete cleft lip and cleft alveolus (secondary palate intact) The premaxillary portion of the noncleft segment is rotated anterolaterally. The underlying alveolus is completely cleft Lateral displacement of the lateral alveolar segments

Bilateral Incomplete Cleft Lip In bilateral clefts, the prolabial-premaxillary segments may be tiny or large, outwardly rotated or relatively normally positioned The median prolabial portion of lip is isolated in the midline and remains attached to the premaxilla and the columella. The underlying alveolus is completely cleft : lateral displacement of the lateral alveolar segments

Bilateral Incomplete Cleft Lip

Clefts Involving the Lip and Palate

Unilateral Complete Cleft Lip and Cleft Palate Complete labial clefts The combination of osseous defects in both the alveolus and the palate contributes to : instability of the dental arch : sometimes collapse of the lateral segments

Unilateral Complete Cleft Lip and Cleft Palate

Bilateral Complete Cleft Involving The Lip, Alveolus, and Palate The premaxilla may be small or large, symmetric or asymmetric. The number of incisor teeth contained in the premaxillary segment is directly related to the size and shape of the premaxilla. When cleft lip is complete on both sides (i.e., bilateral) : the premaxilla projects considerably forward from the facial aspect of the maxilla : less evident if the lip is incompletely cleft on one or both sides

Bilateral Complete Cleft Involving The Lip, Alveolus, and Palate

Bilateral Complete Cleft Involving The Lip, Alveolus, and Palate The columella appears to be deficient The alar cartilages are flattened on both sides. Complete bilateral cleft lip and palate : both nasal chambers are in direct communication with the oral cavity. The nasal septum forms a midline structure

Classification of Cleft Types Kernahan's striped Y

Sequence of Interventions Prenatal-1st few weeks – plastic surgeon and nurse/coordinator; ?orthodontist 3 months – hearing test 3-6 months – lip repair +/- BMT 10-18 months – palate repair +/- BMT 2-3 years -dental and speech evaluations

Sequence of Interventions (cont.) 5 years – initial team conference 7-9 years – team reassessment re lip and nose revision, orthodontia and bone graft, speech and pharyngoplasty 9-14 years – orthodontia +/- bone graft Adolescence - lip and nose revision , team conference if necessary

Presurgical Intervention

When to Treat weight at least 10 pounds Hb at least 10 g Cleft lip : the rules of ten: weight at least 10 pounds Hb at least 10 g WBC count less than 10,000/mm3 age more than 10 weeks

Cleft Lip Repair Old rule of 10’s – Hb, age, weight Fetal or newborn – risks Muscle and vertical height Nasal tip - when?

Historical Surgical Aspect

Objectives of Palate Repair Normal speech Preservation of facial growth Preservation of hearing Separation of oral/nasal cavities Normal dental occlusion Normal swallowing

Surgery

Primary veloplasty (Schweckendiek)

Bipedicled Flap Palatoplasty (Von Langenbeck)

Orthodontia and Alveolar Bone Grafting

Pierre Robin Sequence Micrognathia Glossoptosis Horseshoe cleft palate 17% non- syndromic 34% Stickler (eyes, joints); 11% VCF Positioning > tongue-lip adhesion, floor of mouth release, tracheostomy or mandibular distraction

Feedings Infants with CL/P have few feeding problems. If the cleft involves the hard palate, the infant is usually not able to suck efficiently. Experiment (special nipples or alternate feeding positions) The infant should be held in a nearly sitting position during feeding Prevents flowing to the back into the nose. Should be burped frequently, (q 3-4min).

Feedings It is important to keep the cleft clean Breastfeeding is extremely challenging.

Feeding squeeze bottles with cross-cut nipples Aerophagia fail to gain weight excessive aerophagia Frequent burping Haberman feeder Palatal obturator

Haberman Feeder Activated by tongue and gum pressure. Milk cannot flow back. Replenished continuously as the baby feeds. Prevents the baby from being overwhelmed with milk. A gentle pumping action to the body of the nipple will increase flow.

Tom Brokaw Jesse Jackson American television journalist. Jesse Jackson Politician, professional civil rights activist and Baptist minister Peyton Manning NFL quarterback Annie Lennox Scottish pop musician and vocalist Mark Hamill Actor Tutankhamun Egyptian Pharaoh who may have had a cleft lip according to diagnostic imaging