Cleft lip and cleft palate

Cleft lip and cleft palate

Cleft Lip and Cleft Palate Robert Brayden, MD, and Sondra Valdez, BSN Cleft lip with or without cleft palate (CL 6 P) and cleft palate only (CPO) are...

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Cleft Lip and Cleft Palate Robert Brayden, MD, and Sondra Valdez, BSN

Cleft lip with or without cleft palate (CL 6 P) and cleft palate only (CPO) are common malformations. The prevalence of CL 6 P is approximately 1 in 1000 individuals. CPO occurs in 1 in 2500 individuals. Cleft lip results from the lack of fusion of the maxillary and nasomedial processes. The palate separates the naso-oral pharynx, impacting eustachian tube function, and plays a critical role in speech, as well as feeding. Numerous combinations and varying degrees of severity exist, ranging from unilateral cleft lip to bilateral cleft lip associated with or without clefting of the palate. Cleft palate results from incomplete or absence of the palatal shelves fusing. The extent of palatal clefting ranges from involvement of the entire length of the palate to something as minor as a bifid uvula with normal velopharyngeal functioning. Women with a family history of cleft lip and palate or a history in their partner’s family should be advised to begin taking 0.4 mg/day folic acid 3 months before conception to reduce the risk for recurrence in offspring. A. The following elements of history are relevant to cleft lip or palate: Prenatal history: parental ages and health status; gestation and duration; results of diagnostic procedures (ultrasonography, amniocentesis); complications (bleeding, high fever); fetal movement; and teratogen exposures (e.g., anticonvulsants, retinoids, alcohol and illegal drugs [cocaine, amphetamine]). Family history: any cleft lip or palate in the first-degree or second-degree relatives (Table 1); other birth defects, developmental delays, or learning disabilities; genetic anomalies; multiple miscarriages or stillbirths. Delivery history: gestational age at onset of labor; complications of labor; fetal presentation; mode of delivery; neonatal status and Apgar scores. Birth history: newborn course (feeding, other obvious anomalies, complications) and physical growth (height, weight, head circumference) (Table 2). Developmental history: early milestones, results of formal psychometric testing, and current therapies. Medical history: general health; growth; illnesses; frequency of ear infections; surgical procedures; special studies, including brain imaging, echocardiography, abdominal ultrasonography; audiology, otolaryngology, plastic, dental, and ophthalmologic evaluation. B. The physical examination of children with clefting concerns focuses on evidence of airway obstruction and/or the presence of Pierre Robin sequence (PRS). PRS results from a small mandible, which displaces the tongue, thus preventing the palatal shelves from fusing during embryologic development. PRS may result in respiratory 564

Table 1.  Recurrence Risk Relationship to Index Case

CL 6 P (%)

CPO (%)

Sibling (overall risk) 2 affected siblings Sibling and one affected parent Anomaly Bilateral cleft lip and palate Unilateral cleft lip and palate Unilateral cleft lip General population

4.0 10.0 10.0

1.8 8.0

5.7 4.2 2.5 0.1

0.04

CL 6 P, cleft lip with or without cleft palate; CPO, cleft palate only.

Table 2.  Acceptable Growth by Age of Child Age (months)

Weight Gain (g/day)

Birth to 3 3–6 6–9 9–12 12–18 18–25

20–30 15–20 10–15 6–11 5–8 3–7

obstruction from the posterior displacement of the tongue, sometimes requiring intubation at birth. Avoiding the supine position and placing these infants in the lateral or prone position will decrease the incidence of obstructive events. Feeding infants with PRS is often challenging and requires an upright or prone position. In addition, infants with PRS have an increased incidence of gastroesophageal reflux disease. Severely symptomatic children may require surgical intervention. Cardiac anomalies are somewhat more likely to occur when a child has a cleft of the palate. A number of genetic syndromes are responsible for the structural components that result in the formation of the midline structures of the palate and heart muscle. A careful examination can detect whether a cardiac defect is present. Facial characteristics may give further evidence to genetic abnormalities. A small but rounded face and a narrowness of the alae nasi are signs of 22q11.2 deletion or DiGeorge syndrome. The shape of the skull, the positioning of the eyes, and the eyelid openings may give evidence for the presence of syndromic associations with a cleft. Facial anomalies may also suggest amniotic band syndrome that can result in clefting. Vertebral bodies are also midline structures and can, on occasion, be affected when clefting syndromes are present. Likewise, the penile shaft is more susceptible to hypospadias when a male has a cleft of the lip or palate.

Patient with CLEFT LIP AND/OR CLEFT PALATE

A

History

B

Physical examination

Consider: Preconceptual folic acid Cytogenetic analysis

C

Consult the cleft palate team for multidisciplinary evaluation

D

Evalute breathing, feeding, growth and vaccination status

(Cont’d on p 567)

C. A multidisciplinary approach that integrates audiology, dentistry, genetics, orthodontics, otolaryngology, plastic surgery, primary care pediatrics, psychology, social work, and speech pathology is provided in many centers. D. Primary care pediatricians and occupational therapists will review the approach to feeding with the family and will closely monitor the infant’s weight gain and feeding difficulties. Problems such as coughing, choking, reflux through the nose, and extended feeding time lasting longer than 20 minutes should be addressed. Some babies with particularly large palatal clefts may benefit from the early construction and placement of a palatal obturator prosthesis. This device provides an acrylic hard structure that, if accepted by the infant, can facilitate feeding.

For babies with cleft lip only, breast-feeding is usually possible. Babies with clefts of palatal structures rarely have successful breast-feeding. Babies with a cleft palate will usually need a specialized feeding system, such as the Haberman, Mead Johnson, or Pigeon bottle, and can receive pumped breast milk or formula. Immunizations should be given at the usual times with one exception. The live virus vaccines replicate in the body and theoretically may interfere with wound healing because of the predilection to find sites of enhanced blood flow. An interval of 6 weeks either before or after live virus injected vaccines (MMR [mumps, measles, and rubella], varicella) and surgery is an ample separation.

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E. Middle-ear effusions and hearing deficits should be closely monitored, especially early in life. Children with clefting of the palate and/or anomalies of the hearing apparatus, such as hemifacial microsomia or Goldenhar syndrome, should receive early and thorough evaluation of hearing and needed interventions to maximize hearing potential. F. Surgical care may involve a plastic surgeon, otolaryngologist, and/or oral surgeon. Cleft lip malformations are usually closed at about 3 months of life. Repairing a bilateral cleft lip may require more than one operation. Cleft palate surgery is usually performed between 6 and 15 months of age. Good postoperative care is essential. Educate the parents carefully on proper incision care, diet restrictions (full liquid or soft diet), and guidelines for the safe use of arm restraints. When additional surgery is needed, there is usually a 4- to 6-month healing period between procedures. As the child grows, additional surgery may be indicated to improve palatal function. Indications for additional surgery include speech problems related to incomplete closure of the palate, airway obstruction, and breakdown of the initial repair. G. Reflecting the influence of genetic, developmental, and environmental factors in its occurrence, CPO is more often syndromic and seen in association with other anomalies compared with CL 6 P. However, both isolated and syndromic forms of each occur, and the general diagnostic approach is the same. Decide initially whether structural anomalies are pre­sent (Table 3). Determining whether a cleft lip or palate is isolated versus syndromic is important. Cytogenetic testing is important for many children with clefts. Clefting may occur in chromosomal disorders (e.g., 22q11.2 deletion, trisomy 13, trisomy 18) or single-gene disorders (van der Woude syndrome, ectrodactyly-ectodermal dysplasia-clefting syndrome). Individuals with 22q11.2 deletion syndrome have a range of findings that may include congenital heart disease, palatal abnormalities, characteristic facial features, and learning difficulties. Hypocalcemia and

immune deficiency, although less common, are also seen. The severe end of the 22q11.2 deletion spectrum is known as DiGeorge syndrome. Palatal clefts may be primary or secondary. Secondary clefting usually results from PRS. As described previously, PRS may be an isolated anomaly, or it may occur as part of a skeletal, muscular, connective tissue, or chromosomal syndrome. Stickler syndrome is a single-gene disorder that is sometimes associated with clefting of the palate based on a small mandible. Stickler syndrome is a disorder of collagen and also leads to hearing problems, vision disorders including early and severe myopia, and joint problems. The risk rate for recurrence of CL 6 P after one affected child is in the range of 4% (see Table 1). However, with a history of two affected first-degree relatives, the recurrence risk rate is about 10%. For isolated cleft palate, the recurrence risk rate after one affected child is 1.8%, increasing to 8% after two affected siblings. H. Dental care should address problems that may be associated with clefts of the palate. An obturator may need to be fabricated to facilitate feeding. Nasal alveolar molding may be recommended; this presurgical appliance repositions the premaxilla and aligns the cleft edges, decreasing the number of surgeries required. The dentist also provides anticipatory guidance relating to missing or malformed teeth, crowding, spacing, and alveolar abnormalities. Children with clefts are at a greater risk for dental caries, and good oral hygiene should be promoted, starting when the first tooth erupts. I. Speech therapy is important for the prevention and treatment of speech disorders. Therapy for clefting conditions most commonly is focused on expressive language and articulation skills and the development of a home-based parent–child program. J. See the Child with Special Health Care Needs (p. 548) overview chapter for a discussion of family assets and needs, and behavioral and mental health services.

Table 3.  Common Genetic Anomalies Associated with Cleft Lip with or without Cleft Palate and Cleft Palate Only Genetic Anomalies

Clinical Description

Single-Gene Defects Stickler syndrome van der Woude syndrome Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome Roberts syndrome Fryns syndrome Oral-facial-digital

Severe myopia, spondyloepiphyseal dysplasia Lip pits, hypodontia Ectrodactyly, ectodermal dysplasia Microcephaly, hypomelia, hypotrichosis, facial hemangioma Diaphragmatic abnormalities, coarse face, digital hypoplasia Oral frenula, hypoplasia of the alar cartilage, digital asymmetry

Chromosomal Anomalies 22q11.2 deletion Trisomy 13 4p–syndrome

Cardiac defects, velopharyngeal incompetence, dysmorphic facial features Holoprosencephaly, polydactyly, cardiac defects, eye abnormalities Hypertelorism, broad nose, microcephaly, low set ears

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Patient with CLEFT LIP AND/OR CLEFT PALATE (Cont’d from p 565)

E

Diagnose and manage hearing deficits, middle ear effusion CL/CP algorithm

F

Surgical intervention and follow-up

Consider: Timing Minimum growth

G

Evaluate development and genetics

Consider: Risk of recurrence

H

Coordinate dental/orthodontic management

I J

Coordinate speech therapy

Assess and manage psychological needs

References Jones KL, editor. Smith’s recognizable patterns of human malformation. 6th ed. Philadelphia: WB Saunders; 2006. Losee JE, Kirschner RE, editors. Comprehensive cleft care. New York: McGraw Hill; 2009.

Wilcox AJ, Lie RT, Solvoll K, et al. Folic acid supplements and risk of facial clefts: a national population based case-control study. BMJ 2007; 334:462. doi:10.1136/BMJ.39079.618287.OB.

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