cleft lip and palate

Dr. Gutmann1

Cleft Lip and Palate

Dr. Gutmann2

Introduction:Cleft Lip and Palate

Embryology Epidemiology Etiology Genetics Plastic Surgery

Hearing and speech

Psychology Orthodontics Anthropology

Dr. Gutmann3

Embryological facial development

Frontal View

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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. Gutmann5

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. Gutmann6

Embryological palate development

Frontal view

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Embryological palate development

Inferior view

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Prevalence of Cleft Lip & Palate

Country Years Prevalence Author

Finland 1948-1975 1.74 Rintala, 1986

Israel 1974-1988 0.97 Tolarova, 1998

USA 1983-1990 1.30 Druschel, 1996

Japan 1948-1954 2.68 Vanderas, 1987

France 1974-1996 1.9 Stoll, 2000

China 1980-1989 1.2 Cooper, 2000

Nigeria 1976-1980 0.37 Iregbulem, 1982

Dr. Gutmann9

Epidemiology

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

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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)

Epidemiology

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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. Gutmann12

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)

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Multifactorial inheritanceSiblings- (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%

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Frequency

Unilateral left to Unilateral right to Bilateral

6:3:1

CL/P male to female 2:1

CP female to male 2:1

CL/P to CL 1.5-3:1

CL to CL/P to CP 21% to 46% to 33%

Majority of CL/Ps are isolatedMajority of CPs are syndromic )McCarthy(

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Predicted Occurrence, %

)McCarthy(

CL/P P

One sibling affected 4 2

One parent affected 4 6

One sibling and one parent affected 17 15

Two siblings affected 9 1

One sibling plus family history 4 7

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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

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Examples of Cleft lip: Unilateral and Bilateral

Normal/ Unilateral/ Bilateral

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Repair of cleft lip

Dr. Gutmann19

Repair of cleft palate