TITLE: Cleft Lip and Palate
SOURCE: UTMB Dept. of Otolaryngology Grand Rounds
DATE: January 28, 1998
RESIDENT PHYSICIAN: Greg Young, M.D.
FACULTY: Ronald Deskin, M.D.
SERIES EDITOR: Francis B. Quinn, Jr., M.D., F.A.C.S.
"This material was prepared by physicians in partial fulfillment of
educational requirements established for Continuing Postgraduate
Medical Education activities and was not intended for clinical use
in its present form. It was prepared for the purpose of stimulating
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does not necessarily reflect the current or past opinions of
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INTRODUCTION
Cleft lip and palate represents the second most frequently
occurring congenital deformity (after clubfoot deformity).
Cleft lip, cleft palate or both affects approximately 1 in 750
births. Clefting is associated with many problems including
cosmetic and dental abnormalities, as well as speech, , hearing
and facial growth difficulties. The otolaryngologist is
uniquely qualified to identify and manage many of these
problems, and holds a key role on the cleft palate team.
ANATOMY
The palate consists of the hard palate and soft palate, which
together form the roof of the mouth and the floor of the nose.
The palatine processes of the maxilla and horizontal lamina of
the palatine bones form the hard palate. Its blood supply is
mainly from the greater palatine artery, which passes through
the greater palatine foramen. The nerve supply is via the
anterior palatine and nasopalatine nerves. The soft palate is a
fibromuscular shelf made up of several muscles attached like a
sling to the posterior portion of the hard palate. It closes
off the nasopharynx by tensing and elevating, thereby contacting
Passavants ridge posteriorly. The soft palate consists of the
tensor veli palatini, the levator veli palatini, the musculus
uvulae, the palatoglossus, and palatopharyngeus muscles. CN V
supplies the tensor veli palatini, while CN IX and CN X
innervate the others. The levator veli palatini is the primary
elevator of the palate.
EMBRYOLOGY
The primary and secondary palates are delineated according to
embryological development. The primary palate or premaxilla is
a triangular area of the anterior hard palate extending from
anterior to the incisive foramen to a point just lateral to the
lateral incisor teeth. It includes that portion of the alveolar
ridge containing the four incisor teeth. The secondary palate
consists of the remaining hard palate and all of the soft
palate. The primary palate forms during the 4th to 7th weeks of
gestation as the two maxillary swellings merge and the two
medial nasal swellings fuse to form the intermaxillary segment.
The intermaxillary segment is composed of a labial component
(forms the philtrum), a maxilla component (forms alveolus and 4
incisors), and palatal component (forms the triangular primary
palate). Normally during development of the primary palate, a
cleft does not exist (unlike the secondary palate in which cleft
formation occurs as a natural stage of development). The
secondary palate forms during the 6th to 9th weeks of gestation,
as the palatal shelves change from a vertical to horizontal
position and fuse. The tongue must migrate away from the
shelves in an antero-inferior direction for palatal fusion to
occur.
CLEFT FORMATION
In general, patients with clefts have a deficiency of tissue and
not merely a displacement of normal tissue. A cleft lip occurs
when an epithelial bridge fails, due to lack of mesodermal
delivery and proliferation from the maxillary and nasal
processes. Clefts of the primary palate occur anterior to the
incisive foramen. Clefts of the secondary palate are due to
lack of fusion of the palatal shelves, and always occur
posterior to the incisive foramen. The secondary palate closes 1
week later in females, which may explain why isolated clefts of
the secondary palate are more common in females. A cleft of the
lip increases in probability of a cleft palate developing. The
cleft of the lip occurs earlier and inhibits tongue migration,
which may then prevent horizontal alignment and fusion of the
palatal shelves. In the unilateral cleft lip, the floor of the
nose communicates freely with the oral cavity, the maxilla on
the cleft side is hypoplastic, the columella is displaced to the
normal side, and the nasal ala on the cleft side is laterally,
posteriorly, and inferiorly displaced. The lower lateral
cartilage of the nose is lower on the cleft side, its lateral
cruz is longer, and the angle between the medial and lateral
cruz in more obtuse. The muscles of the orbicularis oris do not
form a complete sphincter but instead are directed superiorly to
the ala nasi laterally and the base of the columella medially.
In the bilateral cleft lip, the central portion of the alveolar
arch is rotated anteriorly and superiorly. The medial or
prolabial segment of skin contains no muscle or vermillion. In
palatal clefts, the muscles of the soft palate are hypoplastic
and insert in the posterior margin of the remaining hard palate
rather than the midline raphe. Associated dentition
abnormalities include supernumerary teeth (20%), dystrophic
teeth (30%), congenitally missing teeth (50%), and malocclusion
(almost 100%).
GENETICS
Nonsyndromic inheritance of facial clefting is multifactorial.
Familial inheritance of both cleft lip and palate occurs with
varying frequency, depending on whether a parent or sibling is
affected. For cleft lip with or without cleft palate, the risk
rate for future offspring is 2% with only one parent affected,
4% with only one sibling affected, 9% with two siblings
affected, and 10-17% with one parent and one sibling affected.
For cleft palate alone, the risk rate for future offspring is 7%
with only one parent affected, 2% with only one sibling
affected, 1% with two siblings affected, and 17% with one parent
and one sibling affected. Chromosome aberrations such as
trisomy D and E have increased incidence of clefts. Facial
clefts are associated with a syndrome 15-60% of the time. More
than 200 recognized syndromes may include a facial cleft as a
manifestation. Common syndromes with cleft palates include
Apert's, Stickler's and Treacher Collins. Van der Woude's and
Waardenberg's syndromes are associated with cleft lip with or
without cleft palate.
EPIDEMIOLOGY
Clefts of the lip and combined lip and palate are twice as
common in males. Isolated cleft palates are twice as common in
females. Cleft lips, with or without cleft palate, are most
common in Native Americans, then Orientals and Caucasians, and
least common in Blacks. Conversely, the rate of isolated cleft
palate is constant among ethnic groups. Environmental factors
found to cause clefts in humans are ethanol, rubella virus,
thalidomide, and aminopterin. Maternal diabetes mellitus and
amniotic band syndrome are associated with clefts. Increased
paternal, but not maternal age is also associated with clefts.
Combined cleft lip and palate is the most common presentation
(50%), followed by isolated cleft palate (30%), isolated cleft
lip (20%) and least common is cleft lip and alveolus (5%).
MANAGEMENT
A team approach is needed to manage the wide variety of problems
common to the patient with cleft lip and palate. In addition to
the reconstructive surgeon, a typical team consists of an
otolaryngologist, dentist, speech pathologist, audiologist,
geneticist, nurse, psychiatrist, social worker, and
prosthodontist. Teams may vary depending on available resources
and individual interest. The otolaryngologist has a pivotal
role in the diagnosis and management of all disorders relating
to the head and neck. Cleft lip and palate patients are
particularly prone to speech disorders and ear disease, and may
have significant airway abnormalities. The otolaryngologist is
uniquely qualified to oversee the management of these disorders,
and at times is the primary reconstructive surgeon as well.
INITIAL HEAD AND NECK EXAMINATION
The otolaryngologist performs a complete head and neck
examination on new patients in the cleft palate clinic. The
head is inspected for symmetry, the auricle and external canal
for development and location. A facial analysis is helpful to
identify abnormalities of facial symmetry and harmony. Otologic
examination includes pneumatic otoscopy and tuning forks.
Anterior and posterior rhinoscopy will identify clefting, septal
abnormalities, intranasal masses, and choanal atresia. Oral
cavity examination will identify any cleft, dental arch
abnormalities and tongue anomalies such as bifid tongue,
macroglossia, glossoptosis, or lingual thyroid. In addition,
malocclusion, hemifacial hypertrophy or atrophy, and facial
clefting are documented. The upper airway tract is evaluated by
assessing the adequacy of phonation, cough, and deglutition, and
by auscultating and palpating the neck.
SPEECH DISORDERS
Errors in articulation are common in cleft palate patients,
especially those involving affricates and fricatives. Other
errors include stop, glides, and nasal semivowels.
Velopharyngeal incompetence is associated with an audible escape
of air from the nose during production of pressure sounds and is
termed nasal emission or snort. It is estimated that 75% of
patients have velopharyngeal competence following primary cleft
palate surgery, and this can be increased to 90-95% with
directed secondary procedures. Velopharyngeal competence is the
most important determinant of articulation performance and
listener understanding of speech in cleft palate patients.
Others factors include dentition, associated hearing loss, and
muscular and neurologic deficits. Velopharyngeal competence can
be estimated by direct examination of the nasopharyngeal depth,
palatal length, and palate movement during phonation. Flexible
fiberoptic nasopharyngoscopy has the added advantage of direct
visualization of palatal motion and pharyngeal wall motion with
both single sounds and connected speech.
EAR DISEASE
Patients with an isolated cleft lip have an incidence of hearing
loss similar to that in the normal population. In contrast,
cleft palate is very often associated with eustachian tube
dysfunction and a resulting conductive hearing loss. Eustachian
tube dysfunction in these patients is due to an abnormal
insertion of the levator and tensor veli palatini muscles into
the posterior margin of the hard palate. In addition to middle
ear effusion, the patients also appear to have an increased
incidence of cholesteatoma (7%). With increasing age, the
incidence of eustachian tube dysfunction decreases, and in many
cases normal eustachian tube function develops by mid
adolescence. Otologic goals in the cleft palate patient are to
provide adequate hearing, maintain ossicular continuity and
adequate middle ear space, and prevent deterioration of the
tympanic membrane. Patients with eustachian tube dysfunction
are evaluated every 3-4 months until it resolves. Indications
for myringotomy and tube insertion include a significant
conductive hearing loss or persistent middle ear effusion,
recurrent otitis media, or tympanic membrane retraction. In
practice, almost all patients with cleft palate will require
multiple sets of tubes from 3-4 months of age until the
beginning of the second decade of life. In contrast, patients
with an isolated cleft lip do not have a significantly increased
rate of myringotomy and tubes.
AIRWAY PROBLEMS
Airway problems may arise in children with cleft palates,
especially those with concomitant structural or functional
anomalies. For example, Pierre-Robin sequence is the
combination of micrognathia, cleft palate, and glossoptosis.
Affected patients may develop airway distress from their tongue
becoming lodged in the palatal defect.
SURGICAL REPAIR
Cleft Lip
Cleft lips are repaired at about 10 weeks of age at most
institutions. Lip adhesions can be performed at 2 weeks of age.
They convert a complete cleft to an incomplete cleft, and serve
as a temporizing measure for those infants with certain feeding
problems. Adhesions may interfere with definitive lip repair
and are less often needed in recent years due to the wider
variety of specialty feeding nipples available. The rotation
advancement method of cleft lip repair is the most commonly used
in The United States. Initially, nine landmarks on the lip are
identified with a vital dye. These are
1) the non-cleft side nasal ala base,
2) The non-cleft side high point of lateral cupid's bow,
3) The low point of cupid's bow,
4) The non-cleft side high point of medial cupid's bow (equal to
distance between #2 and #3),
5) the cleft side high point of cupid's bow (placed where white
roll attenuates along vermillion-cutaneous junction),
6) superior extent of advancement flap(length of #5 to #6 equal
height of non-cleft lip(#4 to #8),
7) point on cleft side alar crease such that length of #5 to #7
equals length of #1 to #2,
8) And 9) the superior extent of the rotation incision.
Through and through cuts are made for the non-cleft side
rotation flap, allowing # 4 to drop down with # 2. (The small
remaining triangular tissue attached to the columella is
Millard's C flap). The cleft side advancement flap is now made,
with distance #5 to #6 corresponding to distance #8 to #4 in its
newly rotated position. Next, the cleft and non- cleft lip
segments are separated in a supraperiosteal plane from the
maxilla. The cleft side nasal ala incision is then made (#6 to
#7), and the external and vestibular skin is separated from the
cleft side lower lateral cartilage. Next, the tip of the
advancement flap (#6) is brought to point #9(base of the
columella). The remaining sutures are then placed to complete
the repair. Bilateral cleft repair, although more complex, is
performed using similar principles.
Cleft Palate
Several techniques for cleft palate repair have been developed
over the past 3 decades. The current trend is toward procedures
that involve less denuding and scarring of the hard palate, and
less tension on the soft palate. Although controversial, many
authors believe there is a relationship between scar formation
of the palatal repair and the impaired mid-facial growth that is
observed in most patients with cleft palate. Bony abnormalities
that develop include collapse of the alveolar arches, midface
retrusion, and malocclusion. Facial growth may also be affected
by the age when the repair is performed. Some surgeons advocate
later repair, because facial growth is less affected when
surgery is delayed until 18-24 months of age. Others advocate
an earlier repair, stating that feeding, speech and
socialization are improved if the surgery is performed by the
1st year of life, and that facial growth problems can be
minimized with less traumatic palate repairs. Several methods
of cleft palate repair have been described.
The two-flap techniques, such as those described by Bardach or
Furlow are used commonly in the United States today. In the
Bardach repair, a single posteriorly based mucoperiosteal flap
is developed over each palatal shelf. In this repair, medial
incisions are made which separate the oral and nasal mucosa, and
lateral incisions are made at the junction of the palate and
alveolar ridge. The mucoperiosteal flaps are elevated, taking
care to identify and preserve the neurovascular bundle
containing the greater palatine artery. Next, the velar muscle
is detached from its attachment to the posterior border of the
palatal shelves. The palate is then closed in three layers, 1st
nasal mucosa, then velar muscle, and finally oral mucosa. The
lateral palate incisions are closed loosely. Bilateral cleft
palate repairs are performed in similar fashion. Cleft palate
patients at high surgical risk or who refuse surgical treatment
may use a dental obturator to obtain velopharyngeal competence.
Disadvantages of dental obturators include the necessity of
wearing a prosthesis and the need for modification of the
prosthesis as the patient grows.
BIBLIOGRAPHY
1. Bardach J, Morris HL, eds. Multidisciplinary management of
cleft lip and palate. Philadephia: WB Saunders, 1990.
2. Bumsted RM. Cleft lip and palate. In: Cummings CW, et
al.,eds. Otolaryngology-Head and Neck Surgery. St. Louis: CV
Mosby, 1988.
3. Crockett DM, Seibert RW, and Bumsted RM. Cleft lip and
palate: the primary deformity. In: Bailey BJ, et al, eds. Head
and Neck Surgery- Otolaryngology. Philadelphia: Lippincott Co.,
1993.
4. Crockett DM. Velopharyngeal incompetence. In: Healy GB, ed.
Common problems in pediatric otolaryngology. Chicago: Year
Book, 1990.
5. Holt GR and Watson MJ. The otolaryngologist's role in the
craniofacial anomalies team. Otolaryngol Head Neck Surg 92:406,
1984.
6. Seibert RW. Lip adhesion in bilateral cleft lip. Arch Otol
Head Neck Surg 109:434, 1983.