• Several developmental syndromes may be associated with orofacial clefts.
• In 15–30% of patients, there is a family history of similar congenital defects.
Occurrence
• The prevalence of cleft palate varies from 0.29 to 0.56 per 1000 births in children, while the prevalence of cleft lips is about one per 9000 births.
• A considerable ethnic association with the prevalence of orofacial clefts has been reported.
• Cleft lip and cleft palate occur in 0.52–1.34 per 1000 births.
Localization
• Lips, hard and soft palate, uvula, maxilla, mandible.
Clinical features
• Cleft lip is characterized by a defect that usually involves the upper lip (Figs. 2.1, 2.2). About 75–80% of cleft lips are unilateral, and the left side is more often affected than the right. Isolated cleft lip occurs less often than a combination with cleft palate and cleft jaw defects. Missing and, rarely, supernumerary teeth may be observed.
• Cleft palate is characterized by a defect in the midline of the palate that varies in severity and may involve the hard palate, soft palate, or both (Fig. 2.3).
• Maxillary anterior alveolar clefts are characterized by a bony defect in the maxilla, usually between the central and lateral incisors (Fig. 2.4).
• Bifid uvula is a minor expression of cleft palate, and may occur alone or in combination with more severe defects (Fig. 2.5).
Treatment
• Plastic surgical repair. Prosthetic and orthodontic appliances are also necessary.
Fig. 2.1 Cleft lip, bilateral
Fig. 2.2 Cleft lip, bilateral
Fig. 2.3 Cleft lip and palate
Fig. 2.4 Maxillary anterior alveolar cleft
Bifid Tongue
Definition
• Bifid tongue is a developmental malformation of the tongue caused by lack of fusion of the lateral halves and resulting in cleavage of the tongue.
Occurrence
• Rare.
Localization
• Tip of the tongue, midline of the dorsum of the tongue.
Clinical features
• The complete form is very rare, and may result in the formation of two complete tongues.
• The incomplete form appears either as an asymptomatic deep groove in the midline of the dorsum of the tongue, or as a double ending of the tip of the tongue (Fig. 2.6). Neither form has any clinical significance.
• Bifid tongue may coexist with the orofaciodigital syndrome.
Treatment
• The incomplete form requires no treatment.
• The complete form needs surgical reconstruction.
Ankyloglossia
Definition
• Ankyloglossia or tongue-tie is a developmental malformation in which the tongue is abnormally fixed to floor of the mouth or lingual aspect of the gingiva, due to a short and malpositioned lingual frenulum.
Occurrence
• Rare. Approximately one per 1000 births.
Clinical features
• The lingual frenulum is short, thick or thin, and fibrous (Figs. 2.7, 2.8).
• The malformation may cause partial or complete immobility of the tongue.
• Mild cases are asymptomatic, and may go unnoticed for a long time. Severe cases may cause problems with speaking, eating and breast-feeding.
Treatment
• Surgical clipping of the frenulum in severe cases.
Fig. 2.5 Bifid uvula
Fig. 2.6 Bifid tongue
Fig. 2.7 Ankyloglossia
Fig. 2.8 Ankyloglossia
Lip Frenulum Anomalies
Definition
• Lip frenulum is a normal connective tissue structure extending from the lips to the alveolar process of the teeth.
Clinical features
• Rarely, the central frenulum of the upper and lower lips may be thick, broad and long, with an adhesion to the marginal gingiva.
• In severe cases, a large gap between the central incisors, or gingival regression or tooth movement may occur (Figs. 2.9, 2.10).
Treatment
• Surgical correction.
Congenital Lip Pits
Definition
• Congenital lip pits or paramedian lip pits are developmental invaginations, which may occur alone or in combination with commissural pits, cleft lip, or cleft palate.
Etiology
• They may be inherited as an autosomal dominant trait.
• They develop through incomplete regression of the lateral sulci of the lower lip during embryonic development.
Occurrence
• Rare.
Localization
• A few millimeters from the midline of the vermilion border of the lower lip, usually bilateral.
• Labial commissures.
Clinical features
• Clinically, they present as bilateral or unilateral depressions (Fig. 2.11).
• The size varies from 1