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Key Features

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Essentials of Diagnosis
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  • 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

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General Considerations
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  • 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

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Clinical Findings

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  • 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

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Differential Diagnosis
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Nonsyndromic
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  • 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

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Syndromic
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  • 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)

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Diagnosis

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  • A complete family history must be taken, and the patient and both parents must be examined

  • Choice of laboratory ...

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