Cleft Lip & Cleft Palate

Key Features

Essentials of Diagnosis

• Cleft lip is more common in males, cleft palate in females

• Cleft lip and palate may be isolated defects (nonsyndromic) or associated with other anomalies as part of a genetic disorder (syndromic)

• Pierre Robin sequence, the association of cleft palate, micrognathia, and glossoptosis may lead to severe airway complications in young infants, necessitating tracheostomy

General Considerations

• From a genetic standpoint, cleft lip with or without cleft palate is distinct from isolated cleft palate

• Although both can occur in a single family, particularly in association with certain syndromes, this pattern is unusual

• Racial background is a factor in the incidence of facial clefting

• The prevalence of facial clefting per 10,000 births is 10.2 in the United States, 12.1 in Western Europe, and 20.0 in Japan

Clinical Findings

• A cleft lip may be unilateral or bilateral and complete or incomplete. It may occur with a cleft of the entire palate or just the primary (anterior and gingival ridge) or secondary (posterior) palate.

• An isolated cleft palate can involve only the soft palate or both the soft and hard palates. It can be a V-shaped or a U-shaped cleft.

• When the cleft palate is associated with micrognathia and glossoptosis (a tongue that falls back and causes respiratory or feeding problems), it is called the Pierre Robin sequence.

• Among individuals with facial clefts—more commonly those with isolated cleft palate—the incidence of other congenital abnormalities is increased, with up to a 60% association with other anomalies or syndromes.

• The incidence of congenital heart disease, for example, is 1–2% in liveborn infants, but among those with Pierre Robin sequence it can be as high as 15%

• Associated abnormalities should be looked for in the period immediately after birth and before surgery

Differential Diagnosis

Nonsyndromic

• Considered a classic example of polygenic or multifactorial inheritance

• Several recent studies have suggested that one or more major autosomal loci, both recessive and dominant may be involved

• Empirically, however, the recurrence risk is still in the range of 2–3% because of nonpenetrance or the presence of other contributing genes

Syndromic

• Cleft lip, with or without cleft palate, and isolated cleft palate may occur in a variety of syndromes that may be environmental, chromosomal, single gene, or of unknown origin

• Environmental

  • Maternal seizures, anticonvulsant usage (CL/CP or CP)

  • Fetal alcohol syndrome (CP)

  • Amniotic band syndrome (CL/CP)

• Chromosomal

  • Trisomies 13 and 18 (CL/CP)

  • Wolf-Hirschhorn or 4p– syndrome (CL/CP)

  • Shprintzen or 22q11.2 deletion syndrome (CP)

• Single-gene disorders

  • Treacher-Collins syndrome, autosomal dominant (CP)

  • Stickler syndrome, autosomal dominant (CP—particularly Pierre Robin)

  • Smith-Lemli-Opitz, autosomal recessive (CP)

• Unknown cause

  • Moebius syndrome (CP)

Diagnosis

• A complete family history must be taken, and the patient and ...