Cleft and Craniofacial Disorders

1

Who cares for children with cleft lip and palate?

It is generally agreed that a multidisciplinary team best treats children with cleft lip and palate. This team is usually composed of a diverse group of clinicians including otolaryngologists, plastic surgeons, pediatric dentists, orthodontists, occupational therapists, pediatricians, speech therapists, audiologists, social workers, geneticists, psychologists, and feeding specialists/nutritionists. Each team member provides expertise in an area needed in the treatment of children who are born with a cleft.

2

Are there guidelines regarding the care of children with cleft lip and/or palate?

A report about children with special needs issued in 1987 by the Surgeon General of the United States stressed that the care of children with clefts should be comprehensive, coordinated, culturally sensitive, specific to the needs of the individual, and readily accessible. The Maternal and Child Health Bureau recognized that children with clefts and/or other craniofacial anomalies have special needs and in 1991 provided funding to the American Cleft Palate–Craniofacial Association (ACPA) to develop standards for their health care. As part of these parameters of care, it has been recommended that treatment of cleft and craniofacial conditions occur in a team setting. In 1993, the ACPA released Parameters for Evaluation and Treatment of Patients With Cleft Lip/Palate or Other Craniofacial Anomalies . These parameters have been revised several times, most recently in 2018, and serve as a basis for cleft teams to achieve and maintain accreditation.

3

Summarize the guidelines for the cleft palate team.

• The team should consist of an operating surgeon, orthodontist, speech-language pathologist, and at least one additional specialist from otolaryngology, audiology, pediatrics, genetics, social work, psychology, and general pediatric or prosthetic dentistry, who meet face-to-face at least six times per year to evaluate and develop treatment plans for the team’s patients.

• The team should evaluate at least 50 patients per year.

• The team should have at least one surgeon who operates on at least 10 primary cleft lips and/or palates per year.

• The team should coordinate treatment and ensure that a primary care physician evaluates each patient.

• The team should ensure that its members attend periodic, continuing education programs about cleft lip and palate.

• Fig. 53.1 demonstrates example times/ages when specific concerns are most often addressed.

  

4

Describe the difference in frequency of clefting in regard to race and sex.

The overall reported frequency of children being born with a cleft lip and/or palate is approximately 1:700. A higher frequency of cleft lip and palate occurs in Native Americans, those of Asian descent, and those of Latin American descent (1:400). The lowest frequency is reported in African Americans (1:1500 to 2000). Cleft palate alone is fairly consistent among ethnic groups at 1:2000. There is a male predominance in cleft lip and palate and a female predominance in cleft palate alone.

5

What are some of the causes of cleft lip/palate?

Clefts can be generally classified as syndromic or nonsyndromic. Single gene transmissions, chromosomal aberrations, teratogenic effects, or environmental exposures can cause syndromic clefting. Over 400 syndromes are associated with cleft lip/palate. Nonsyndromic clefts have a non-Mendelian inheritance pattern. There is not a clear understanding of the factors involved in the occurrence of cleft lip/palate. Concordance rates in monozygotic and dizygotic twins are 40% to 60% and 5%, respectively. These findings indicate a major genetic component, but environmental factors are also implicated. Recurrence rates for cleft lip/palate and isolated cleft palate range from 1% to 16% in cases of families with children born with nonsyndromic cleft lip and/or palate.

6

Name some of the more common syndromes in which cleft lip/palate is a characteristic.

• Apert’s syndrome

• Stickler’s syndrome

• Treacher-Collins syndrome

• 22q11 deletion syndrome (previously named velocardiofacial syndrome, Shprintzen syndrome, or DiGeorge complex syndrome)

• Van der Woude syndrome

• Goldenhar syndrome or hemifacial microsomia

7

What is Pierre Robin or Robin (pr. Rō-bāń) sequence?

Pierre Robin sequence was first described in the early 1800’s but bears the name of Robin, a French stomatologist who wrote extensively on and drew attention to the constellation of findings beginning in 1923. It is usually described as micrognathia (small mandible), relative glossoptosis (tongue of normal size but relatively large compared to the small mandible), and airway obstruction. The constellation of findings is thought to occur from a single embryologic event that occurs between 6.5 and 10 weeks of embryologic development, resulting in a small mandible. The relative macroglossia causes the tongue to sit high and posterior in the oropharynx, leading to upper airway obstruction at birth. A wide U-shaped cleft palate is present in most, but not all, patients due to inability of the palate to close normally because the tongue impedes it. Robin sequence is rarely isolated and can occur in a variety of craniofacial syndromes.

8

What is the ratio of cleft lip to cleft lip and palate?

Cleft lip and palate is the most common occurrence, accounting for 50% of patients. Left unilateral cleft lip and palate is the most common, followed by right unilateral cleft lip and palate and then bilateral cleft lip and palate. Cleft palate alone occurs in 35% and is more often syndromic than cleft lip and palate or cleft lip alone. Cleft lip alone occurs in 15%.

9

Distinguish between complete cleft lip and incomplete cleft lip.

The distinction between complete and incomplete cleft lip is controversial. Generally, a complete cleft lip is defined as a cleft with muscular diastasis of the orbicularis oris. This condition can usually be best determined by observing nostril symmetry or appearance with facial movement. A complete cleft may be present with a Simonart’s band.

10

What is a Simonart’s band?

A Simonart’s band is a thin remnant of tissue in the floor of the nasal vestibule bridging the medial and lateral lip elements across the cleft. The tissue may consist of skin and/or mucosa and subcutaneous tissue with or without a small amount of muscle fibers. The origin of the term is obscure, but many attribute it to Pierre Joseph Cécilien Simonart, a Belgian obstetrician (1817–1847).

11

What is the primary palate and the secondary palate?

The primary and secondary palates are separated by the incisive foramen. The primary palate consists of the lip, alveolar arch, and palate anterior to the incisive foramen (the premaxilla). The secondary palate consists of the soft palate and the hard palate posterior to the incisive foramen ( Fig. 53.2 ).

12

How is the primary palate formed?

Primary palate formation occurs between weeks 4 and 7. The development of the primary palate is largely complete prior to formation of the secondary palate. During week 4 the frontonasal prominence forms, including nasal placodes. The nasal placode consists of ectodermal thickenings located on the lateral aspect of the prominence. By week 5 the frontonasal prominence elevates and forms medial and lateral nasal prominences around the nasal placode. Next, the placode invaginates and forms nasal pits. During weeks 6 and 7, the maxillary prominences enlarge and grow medially. This growth forces the medial nasal prominences toward the midline. With the fusion of both medial nasal prominences, the tip of the nose, central upper lip, and philtrum of the upper lip are formed. The lateral portion of the upper lip and maxilla is formed by fusion of the medial nasal prominence and maxillary prominence. Finally, the nasal alae are formed by fusion of the lateral nasal prominences with the maxillary prominence.