Cleft Lip & Palate

Eduardo D. Rosas Blum, MD

August 7, 2007

While on call

25yo G1 P1 delivers a full-term infant

after 12hrs of uneventful labor.
The infant was found to have a cleft
lip and palate.
How should the care for this infant,
and his mother, be?

Birth defects

Malformations

Deformations

alterations in normal development

abnormal mechanical force on an
otherwise normal fetus

Disruptions

disruption of an otherwise normal

developmental process

Introduction

Most common craniofacial

malformation
Cleft lip with or without cleft palate
(CL/P) or isolated cleft palate (CP).
CL/P and CP differ with respect to

Embryology, etiology, candidate genes,

associated abnormalities, and
recurrence risk.

Unilateral incomplete

Incomplete cleft palate

Unilateral complete

Unilateral complete lip and

palate

Bilateral complete

Bilateral complete

Prevalence

CL/P is more common than CP and varies

by ethnicity.
CL/P
High in American Indians and Asians (1/500
newborns)
Low in American blacks (1/2000 newborns)
Intermediate level in Caucasians (1/1000
newborns)

Isolated CP occurs in only 1/2500

newborns and does not display variation
by ethnicity.

Cleft Lip

Complete closure at 35 days

postconception:
7 weeks from the LMP.
Lateral nasal, median nasal, and maxillary
mesodermal processes merge.

Failure of closure can produce unilateral,

bilateral, or median lip clefting.
Left side unilateral cleft is the most
common.

Cleft lip Severity

Mild, involving only the lip

Extend into the palate and midface

thereby affecting the nose, forehead,
eyes, and brain.

Cleft Palate

Lack of fusion of the palatal shelves.

Abnormalities in programmed cell
death may contribute to lack of
palatal fusion(?).
Isolated disruption of palate shelves
can occur after closure of the lip
Palatal closure is not completed until
9 weeks post-conception.

Etiology

Genes
Control cell patterning, cell
proliferation, extracellular
communication, and differentiation
Clefting usually represents a genetically
complex event
Single Mendelian disorders associated
with clefting are rare
2 to 20 genes are thought to interact to
result in facial clefting

Etiology

Dlx gene

Sonic hedgehog gene

Direct the destination of the distal skeletogenic

mesenchyme elements to the palate.
Mutations of these genes result in isolated palatal
defects.
Protein that mediates ectodermal functions, might
regulate the outgrowth and fusion of the facial
domains.

TGF-alpha variant

Receptor ligand, usually a rare variant of TGF-alpha

Family histories of cleft defects
Additive teratogenic effect with agents such as
cigarette smoking and alcohol

Etiology

TGF-beta-3 gene
Expressed just prior to palatal fusion.
Results in isolated cleft palate.

IRF 6

Identified in autosomal dominant van

der Woude syndrome.

Environmental
agents

Several agents that are associated with

an increased frequency of midfacial
malformation.
Medications phenytoin, sodium
valproate, methotrexate.
With corticosteroids there is no
evidence of an increase in
malformations.

Possible association could not be excluded

Etiology

Cigarette smoking

Alcohol

Noted with mothers of children with facial

clefting, both CL/P and CP.
Teratogenesis has been attributed to hypoxia as
well as a component of tobacco (cadmium).
Associated with an increased risk of fetal facial
clefting.
Alterations in cell membrane fluidity or reduced
activity of specific enzymes such as superoxide
dismutase.

Folate deficiency

Contributes to a range of birth defects.

Evidence is emerging for a similar association
with the development of CL/P.

Prenatal Diagnosis

Diagnosed until the soft tissues of the

fetal face can be clearly visualized
sonographically (13 to 14 weeks).
The majority of infants with cleft lip
also have palatal involvement:
85% of bilateral cleft lips
70% associated with cleft palate.
Cleft palate with an intact lip comprises
27% of isolated CL/P

Prenatal Diagnosis

The sensitivity is highest when is associated

with other structural anomalies.
Isolated CL/P in a low risk population, the
sensitivity may only reach 50 percent.
Cleft palate with an intact lip is the most
difficult orofacial malformation to diagnose
prenatally.
Detected in only 13 of 198 cases in one large
series.
Three-dimensional ultrasound, can provide a
clear image of the malformation

Prenatal Diagnosis

Syndrome ?

A thorough examination of the

newborn or stillbirth is always
warranted.
Orofacial clefting is noted in over
300 syndromes.
3 deserve additional comment.

frequency, variable presentations, and

modes of inheritance

Deletion of
chromosome 22q11

DeGeorge syndrome.
Spectrum in addition to cleft palate:

Conotruncal cardiac defects, thymic

hypoplasia, and velopharyngeal webs.

Majority of cases represent a new

microdeletion
In families with conotruncal
malformations and/or CP, further
evaluation is appropriate.

Oral-facial-digital
syndrome, type I

X-linked dominant syndromes.

Manifestations in affected females
are variable and subtle:
hyperplastic frenula
cleft tongue
cleft lip/palate
digital anomalies

Treacher-Collins
syndrome

Autosomal dominant disorder

Downward slanting palpebral fissures,
micrognathia, dysplastic ears, and
deafness.

Mental development is normal.

The mutations appear to increase cell

death in the prefusion neural folds.
A family history with deafness, ear
abnormalities, or CP.

Obstetrical
Management

Amniocentesis for karyotype should be

offered.

high rate of chromosomal defects

Difficulty in prenatal sonographic

diagnosis supports chromosomal
evaluation
As of January 2002, "in utero" correction
had been attempted only once in Mexico

The child delivered prematurely and died at

two months of life

Recurrent Risk
Affected relative

Risk in child, percent

Cleft lip with or without cleft palate

Parent

2%

Sibling

4 7%

Parent and Sibling

11 14%

Two Siblings

10%
Cleft palate only

Parent

7%

Sibling

2 5%

Parent and sibling

14 17%

Postnatal
Management

The Care will entail attention, not only to

surgical repair, but also more immediate needs
such as feeding.
Primary lip repairs can often be undertaken at
three months of age with palatal repairs around
six months.
Additional surgeries as well as speech and
orthodontic therapies are often needed.
The cleft Lip and Palate Association
(www.clapa.com/) provides support and
information for parents.

Cleft lip repair. The edges of the cleft between the lip and nose are cut (A and B).
The bottom of the nostril is formed with suture (C). The upper part of the lip
tissue is closed (D), and the stitches are extended down to close the opening
entirely (E).

Feedings

Infants with CL/P have few feeding

problems.
If the cleft involves the hard palate, the
infant is usually not able to suck
efficiently.

The infant should be held in a nearly

sitting position during feeding

Experiment (special nipples or alternate

feeding positions)

Prevents flowing to the back into the nose.

Should be burped frequently, (q 3-4min).

Feedings

It is important to
keep the cleft clean

Breastfeeding is
extremely
challenging.

Haberman Feeder

Activated by tongue and

gum pressure.
Milk cannot flow back.
Replenished
continuously as the
baby feeds.
Prevents the baby from
being overwhelmed
with milk.
A gentle pumping
action to the body of the
nipple will increase
flow.

Family Care

Have a family meeting with both parents

present.
Infant should be brought to the parents as
soon the mother and the infant are in
satisfactory condition.
Allow the parents to observe, react and ask
questions about the infant.
Explained the defect and the how the
surgeon will most likely correct the clefts.
Before and after pictures are helpful.

Family Care

Emphasize as possible to the parents

the normal healthy features of the
baby.
The baby should be present when the
defect is explained, as ugly as the
cleft might be.
Training the mother about feeding
techniques and avoiding
complications.

Tom Brokaw

American television journalist.

Jesse Jackson

Politician, professional civil rights

activist and Baptist minister

Peyton Manning

NFL quarterback

Annie Lennox

Scottish pop musician and vocalist

Mark Hamill

Actor

Tutankhamun

Egyptian Pharaoh who may have had

a cleft lip according to diagnostic
imaging

References

Klaus & Fanaroff. Care of the high-risk neonate.

Saunders. 5th edition. 2001 USA.
Colin D. Rudolph Rudolphs Pediatrics McGraw-Hill.
21st edition. 2002. USA.
Christensen, K, et al. Cleft-twin sets in Finland 19481987. Cleft Palate Craniofac J 1996; 33:530.
Clementi, M, et al. Evaluation of prenatal diagnosis of
cleft lip with or without cleft palate and cleft palate by
ultrasound: experience from 20 European registries.
EUROSCAN study group. Prenat Diagn 2000; 20:870.
Milerad, J, et al. Associated malformations in infants
with cleft lip and palate: a prospective, populationbased study. Pediatrics 1997; 100:180.
Cockell, A, Lees, M. Prenatal diagnosis and
management of orofacial clefts. Prenat Diagn 2000;
20:149.