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The Spectrum of Orofacial Clefting

Overview

  • Incidence
  • Embryology
  • Classification
  • Genetic Factors
  • Environmental Factors
  • Genetic-Environmental Interactions
  • Orofacial Cleft Types

Onyi Chidomere

Mercedez Hernandez

Eppley, Aalst, Robey, Havlik, Sadove (2003)

Conclusion

Orofacial Cleft Types

Environmental Factors

Unilateral CL-CP

Bilateral CL-CP

Median Cleft Lip

Incidence

  • Complex relationship: genetics and environment

  • Universal classification scheme non-existent

  • Implications for Future Studies:

Discern subtle relationships between genetics-environment and orafacial clefts

Lateral Facial Clefts

Median Mandibular Cleft

Oblique Facial Clefts

Classification

  • Incidence rates are increasing

  • Most common:

Unilateral and bilateral CL-CP

  • 2/3 of major facial malformations
  • 80% of orofacial cleft types

Two Models:

  • Van der Meulen
  • Embryological

  • Tessier's classification
  • Anatomical

Tessier's Classification

Example

Van der Meulen: Nasomaxillary dysplasia

Tessier's Classification: Tessier no. 1

Thank You!

Genetic Variabilities and Factors

Embryology

Two Genetic Variabilities:

1. Syndromic

  • Associated with an additional malformation

Ex: Van der Woude Syndrome

2. Nonsyndromic

  • Isolated anomaly without an additional malformation

Genetic Factors:

  • Gene MSX1 on Chromosome 4
  • Transforming growth factors on Chromosome 14 and 19

Cleft Lip Cause:

Failure of medial nasal process and lateral nasal and maxillary processes to either contact or maintain contact

Cleft Palate Cause:

Secondary palate fails to fuse completely

Genetic-Environmental Interactions

  • Presence of:
  • Transforming growth factor alpha genotype
  • Maternal cigarette use

Increases risk by 6x

  • MSX1
  • Maternal alcohol consumption/maternal cigarette use

Also increases incidence

ECG

62

bpm

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