Orofacial Clefts
Oral Pathology

Author: Alessio Parrotta
Date: 25/06/2010



Orofacial clefts are congenital malformations characterized by incomplete formation of structures separating the nasal and oral cavities: lip, alveolus, hard and soft palate.

We can find three variations of this disease:

  • Cleft lip (cheiloschisis, CL)
  • Cleft palate (palatoschisis, CPO)
  • Cleft lip and palate (cheilopalatoschisis, CLP)

The Diseases DatabaseURL
OMIM single geneURL


The average incidence of CLP is 1-2 per 1000 live births.

Epidemiological studies in Italy has demonstrated that cleft palate as well as right sided clefts are more frequent in females, while left sided clefts are more frequent in males.

Literature sources:

Carinci F, Rullo R, Farina A, Morano D, Festa VM, Mazzarella N, Del Viscovo D, Carls PF, Becchetti A, Gombos F. , Non-syndromic orofacial clefts in Southern Italy: pattern analysis according to gender, history of maternal smoking, folic acid intake and familial diabetes. J Craniomaxillofac Surg. 2005 Apr;33(2):91-4.


Orofacial clefts are usually identifiable at birth as an opening or split in the upper lip, the palate or both.

Other symptoms includes:

  • Swallowing problems
  • Feeding problems
  • Flow of milk through nasal passages during feeding
  • Recurrent ear infections
  • Speech difficulties
  • Misaligned teeth
  • Change in nose shape


Prenatal diagnosis includes:

  • MRI
  • Ultrasounds
  • Amniocentesis to check for chromosomal abnormalities

After birth a physical examination of the mouth, nose, and palate confirms a cleft lip or cleft palate.

Embryological signs

Development of the face


Oral cleft is a defect of formation of the frontonasal proces by wich nose, superior lip, maxilla and primary palate take origin, or is a defect of the fusion of the frontonasal proces with the two maxillary processes. These two anomalies are caused by defects of neural tube.

The pathogenesis of cleft lip and cleft palate is complex; the most widely accepted model is the multifactorial inheritance (Carter, 1969;Fraser, 1970), according to wich this pathology is connected to the interaction of genetic and environmental factors.

Genetic Factors:

Environmental Factors:

Prevention Factors

Literature sources:

  1. Maternal dietary B vitamin intake
  2. “Folate intake
  3. Folic acid on prevention of orofacial cleft


  • Feeding problems

  • Psychosocial issues
  • Infections (otitis media, pneumonia, bronchopneumonia)


  • Plastic surgery
  • Oral and maxilofacial surgery

Alessio Parrotta – Giorgia Corrias

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