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Cleft lip and palate is a fissure type embryopathy extending across the upper lip, nasal base, alveolar ridge and the hard and soft palate.
ORPHA:199306Classification level: Disorder
- Alveolar cleft lip and palate
- Cleft lip and palate
- Cleft lip-alveolus-palate syndrome
- Prevalence: 1-5 / 10 000
- Inheritance: Multigenic/multifactorial
- Age of onset: Infancy, Neonatal
- ICD-10: Q37.0 Q37.1 Q37.2 Q37.3 Q37.4 Q37.5 Q37.8 Q37.9
- OMIM: 119530 129400 225060 600625 600757 602966 608371 608864 608874 610361 612858 613705 616788 618149
- UMLS: C0158646
- MeSH: -
- GARD: -
- MedDRA: 10009260
The annual incidence ranges from 1/2,000 to 1/5,000 births. Cleft lip and palate is seen twice as commonly in boys.
The malformation is the association, in varying degrees, of cleft lip/alveolus and cleft palate (see these terms). The lip and alveolus anomaly is paramedian and is located at the philtrum level for the lip and at the level of the upper lateral incisors for the alveolar ridge. It involves a cutaneous, muscular and mucosal interruption in the lip in addition to a nostril and nasal septum deformity and a gap in the alveolar bone and dental arch. Clinical forms range from a simple midline groove in the lip to a complete cleft lip and palate reaching the incisive foramen with an opening in the base of the nostril. The cleft seen in cleft palate is median. The clinical forms range from a simple bifid uvula (see this term) to a complete cleft palate reaching the incisive foramen. Cleft palate can disrupt sucking-swallowing in newborns. In addition, Eustachian tube malformation can lead to incomplete drainage of the middle ear with recurrent otitis and transmission hypoacousia. The maxillary lateral incisor, at the site of the alveolar cleft, can present with anomalies in shape, number (duplication or agenesis) and position. There is no correlation seen between temporary (primary) and permanent dentition.
Cleft lip and palate is an embryopathy that appears, for the cleft lip, in the 5th and 7th week of pregnancy, following an error in fusion of the frontal processes, and for the cleft palate in the 7th and 12th week of pregnancy following an error in fusion of the palatine process. Cleft lip and palate is an isolated, non-syndromic anomaly in 70% of cases and the remaining 30% of cases are seen in about 300 syndromes. Non-syndromic clefts are believed to be caused by a combination of genetic and environmental factors. Factors such as exposure to teratogenic substances during pregnancy (alcohol, tobacco or drugs) can have an influence on genetic susceptibility.
The diagnosis is clinical.
The presence of associated malformations allows for differentiation between isolated and syndromic forms.
Antenatal diagnosis is often made during prenatal ultrasound. The case is submitted to a multidisciplinary center for prenatal diagnosis in order to establish if it is an isolated anomaly.
Management and treatment
Management requires multidisciplinary medical and surgical intervention from birth until the end of development. It involves primary followed by secondary surgery (maxilla-facial and plastic). Speech therapy management involves guidance and rehabilitation from an early age as well as a pharyngoplasty before entering primary school, if necessary. In the presence of a hypomaxilly, due to an error in maxillary growth, an intermediate bone and/or orthognatic surgery on the maxillae is necessary. Treatment of an alveolar cleft most often requires a maxillary bone graft and, in the presence of permanent lateral incisor agenesis, a dental implant at the end of growth. ENT management involves the monitoring of sero-mucosal pathologies (otitis), hearing, phonation and breathing. Breathing difficulties can occur due to malformation of the nostril as well as deviation of the vomer and nasal septum and turbinate hypertrophy.
The prognosis depends on the quality of initial management and regular follow-up. Cleft palate can have functional, esthetic and psychological consequences that require management in a specialized health center.