• Cleft lip may result from failure of the medial nasal and maxillary processes to join in utero, or possibly from lack of adequate mesenchymal reinforcement, leading to subsequent breakdown and separation. Cleft palate results from failure of the palatal shelves to fuse.
• Lower-than-expected incidence of CL and CP has been noted with prenatal dietary supplementation with folic acid and vitamin B₆. Folic acid supplementation has also been clearly associated with a decreased incidence of neural tube defects.

• One-third of patients with cleft lip and/or palate have a positive family history; positive family history is noted twice as often in CL with or without CP as in CP alone.
• Two-thirds of cases have no clear genetic basis and are presumed to be environmental. Clefting may be present as a feature of a number of recognized patterns of malformations attributable to alcohol, anticonvulsants (phenytoin), and isotretinoin. Isolated clefting has not been associated with prenatal exposure to a single substance.

• The most common is Stickler syndrome (17.5% of syndromic clefts), characterized by autosomal dominance, CP, epicanthal folds, flat facies, severe myopia, retinal detachment, and glaucoma, caused by a mutation of the gene for type 2 collagen (chromosome 12q).
• Other syndromes linked to specific chromosomal abnormalities include velocardiofacial (22q11), Van der Woude (autosomal dominant, CP and/or CL, lower lip pits, 1q32), and Smith-Lemli-Opitz (defect in cholesterol synthesis, 7q34).

• Incidence of CL with or without CP is 1 in 700 births.
• Racial heterogeneity noted in CL and CP (Asians, 2.1 in 1,000 births; whites, 1 in 1,000; blacks, 0.41 in 1,000)
• Isolated CP is in 1 in 2,000 births across races.
• Bilateral CL is associated with CP in 86% of cases, and unilateral CL is associated with CP in 68% of cases.
• CL1CP is more common on the left side, particularly in boys.
• Incidence of CL with or without CP increases with parental (especially paternal) age greater than 30 years. Some association with low socioeconomic class may be nutrition-related.

• Airway obstruction and feeding disorders, particularly with Pierre-Robin sequence (micrognathia, glossoptosis, airway obstruction, with or without CP)
• Chronic otitis media
• Speech problems
• Associated defects
• About one-third of patients with CP have associated anomalies, with isolated having the highest. CNS, cardiac, and urinary tract malformations and club foot are commonly associated with clefting.

• Incomplete or complete cleft of lip, alveolus, hard and soft palate, or uvula. Soft palate and uvula clefts are always midline, while lip, alveolar, and hard palatal clefts can be unilateral or bilateral.
• A bifid uvula may indicate a submucous cleft.
• A small mandible and retropositioned tongue may indicate a risk for airway obstruction.
• Look for associated anomalies of the face, heart, and extremities that may indicate a clefting syndrome.

• Complete ophthalmologic examination to check for myopia, glaucoma, retinal detachment
• Pulse oximetry to check for desaturation while feeding or while supine
• Polysomnography to distinguish central from obstructive apnea
• Increased serum 7-dehydrocholesterol and decreased serum cholesterol to rule out Smith-Lemli-Opitz syndrome
• Karyotype to rule out specific genetic abnormalities
• Echocardiography, renal ultrasound, IV pyelography if indicated

• Significant airway obstruction and desaturation in the neonatal period refractory to prone positioning may indicate the need for a tongue-lip adhesion, release of the floor of the mouth musculature, or tracheostomy.
• Wide clefts of the lip may benefit from preliminary lip adhesion at 23 months of age. Timing of definitive lip repair varies from 2 to 6 months of age.
• Palate repair is generally done prior to 1 year of age to decrease speech and language difficulties.
• Otitis media is more common with CP, and bilateral myringotomy tubes can be inserted at the time of cleft repair.
• Correction of secondary deformities may include lip scar revision, cleft nasal deformity correction (infancy to adulthood), alveolar bone grafts (usually when permanent canines are erupting), pharyngoplasty for soft palate—pharyngeal incompetence, closure of palatal fistulas, and orthognathic surgery for severe jaw deformities.

• Pediatrician
• Plastic surgeon
• Speech pathologist
• Orthodontist
• Pediatric dentist
• Psychologist
• Social worker
• Nurse practitioner
• Anthropologist (facial growth specialist)
• Geneticist
• Support groups

• Hypernasal quality with vowel sounds and nasal air emission during consonant production may indicate velopharyngeal incompetence or palatal fistula. Thirty percent of patients may require additional palatal or pharyngeal surgery following initial palate repair.
• Multiple ear infections may require prolonged use of myringotomy tubes to prevent hearing impairment.
• Delays in speech and language development may require detailed evaluation, early intervention programs, and speech therapy.
• Poor dentition, occlusal problems (crossbite), gingivitis, and crowding have been noted. Behavior disorders and psychosocial adjustment disorders may require attention.

• Failure to diagnose life-threatening airway problems in the neonate can be fatal.
• Failure to diagnose associated anomalies may lead to missed syndromes and inaccurate genetic counseling.
• A submucous cleft palate can be easily missed until hypernasal speech is noted later in life.

Q: What is our risk of having a second child with a cleft, if neither of us has a cleft?
A: Two percent.

Q: What is my child’s risk of later having a child with a cleft?
A: Four percent.

Q: What is our risk of having a third child with a cleft, if we have two affected children, but neither of us is affected?
A: Nine percent.

Q: What is our risk of having a second child with a cleft, if one of us also has a cleft?
A: Seventeen percent.

FOR NONSYNDROMIC ISOLATED CP

Q: What is our risk of having a second child with a cleft, if neither of us has a cleft?
A: Two percent.

Q: What is my child’s risk of later having a child with a cleft?
A: Six percent.

Q: What is our risk of having a third child with a cleft, if we have two affected children, but neither of us is affected?
A: One percent.

Q: What is our risk of having a second child with a cleft, if one of us also has a cleft?
A: Fifteen percent.

Q: Will my child look normal?
A: All cleft lip repairs will leave some type of permanent scar, with potential asymmetry that may benefit from later additional lip scar revision. The goal is to create a lip that does not attract undue attention. The nose is often the most difficult to correct, because of asymmetry in cartilage and skin contour.

Q: Will my child speak normally?
A: Most children will achieve velopharyngeal competence and normal speech, but may require additional speech therapy to achieve this goal.

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Hardesty RA, ed. Advances in the management of cleft lip and palate. Clin Plast Surg 1993;20(4):597–821.

Hobar PC. Cleft lip II: secondary deformities. Select Read Plast Surg 1994;7(22):1–28.

Hodges PL, Pownell PH. Cleft surgery and velopharyngeal function. Select Read Plast Surg 1994;7(23):1–36.

Kaufman FL. Managing the cleft lip and palate patient. Pediatr Clin North Am 1991;38(5):1127–1147.

Witt PD, Marsh JL. Advances in assessing outcome of surgical repair of cleft lip and cleft palate. Plastic Reconstr Surg 1997;100(7):1907–1917.