Cleft Lip and Palate Dr. Gutmann

Introduction:Cleft Lip and Palate Embryology Epidemiology Etiology Genetics Plastic Surgery Hearing and speech Psychology Orthodontics Anthropology Dr. Gutmann

Embryological facial development Frontal View Dr. Gutmann

Embryology(Sperber,1992) 4th- 8th week –closure of Primary Palate(Frazer, 1970) 4th week- Stomodeum(involution of ectomesenchyme) Maxillary and Mandibular processes 5th week- Primary palate formation- fusion of maxillary and frontonasal process. (Lateral and Medial Nasal Swellings/Nasal pits) 6th-10thweek –closure of Secondary Palate(Christensen,1992) 6th week- Palatine Shelves/ muscle of soft palate Dr. Gutmann

Cleft lip w/- w/o Palate Cleft anterior to Incisive Foramen(Sperber, 1992) Mesenchymal cells do not penetrate the Nasolacrimal Grooves Cleft lip w/ palate- Primary Palate defect Cleft posterior to Incisive Foramen(Langman, 1981) Palatine Shelves do not fuse. Dr. Gutmann

Embryological palate development Frontal view Dr. Gutmann

Embryological palate development Inferior view Dr. Gutmann

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 Dr. Gutmann

Epidemiology Cleft lip w/ or w/o Palate:0.6-2 : 1,000 Births Japan 1.7/ Whites- 1.0 / Blacks- 0.4 Dr. Gutmann

Epidemiology Males: More Cleft Lip w/- w/o Palate Females:More Cleft Palate-later fusion Palatine plates /longer period/greater exposure time(Burdi,1969) (Cooper, 2000) Dr. Gutmann

Etiology of Cleft Lip and Palate Multifocal Midline facial defect (developmental) Growth hormone defect/Teeth development defect Genetic(Wyszynski, 1996) - Mendelian/- Multifactorial Twins study (Keush, 1991)- 33%- identical/ 7%- non-identical Dr. Gutmann

Etiology of Cleft Lip and Palate (continue) Environmental factors: Humans: Alcohol, smoking, antiepileptic meds Animal experimentation: Cortizol/ Steroids(Richtsmeir, 1994) Bixler, 1991) Anti- Asthmatic/ X-ray (Sa’ad, 1994) Dr. Gutmann

Multifactorial inheritance Siblings- (one sibling) Bilateral cleft lip and palate- 5.7% Unilateral cleft lip and palate-4.2% Cleft lip w/o palate- 2.5% (Bixler, 1981/ Fraser, 1970) 2 siblings affected- additional (9.0%) (Wyszynski, 1996) Relatives- (Balgir,1984) First degree- 4% Uncles- 0.6% Cousins(First degree)-0.4% Dr. Gutmann

Frequency 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) Dr. Gutmann

Predicted Occurrence, % 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) Dr. Gutmann

Examples of Cleft Palate Cleft of Back Soft Palate Cleft of Soft Palate Cleft of Soft and Hard Palate Cleft of Soft and Hard Palate and Cleft Lip Dr. Gutmann

Examples of Cleft lip: Unilateral and Bilateral Normal/ Unilateral/ Bilateral Dr. Gutmann

Repair of cleft lip Dr. Gutmann

Repair of cleft palate Dr. Gutmann

Dr. Gutmann