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
How should the care for this infant, and his
alterations in normal development
abnormal mechanical force on an otherwise normal
disruption of an otherwise normal developmental
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 Unilateral complete Bilateral complete
Incomplete cleft palate Unilateral complete lip and Bilateral complete
CL/P is more common than CP and varies by
High in American Indians and Asians (1/500
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.
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.
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
Control cell patterning, cell proliferation,
extracellular communication, and differentiation
Clefting usually represents a genetically complex
Single Mendelian disorders associated with
clefting are rare
2 to 20 genes are thought to interact to result in
Direct the destination of the distal skeletogenic mesenchyme
elements to the palate.
Mutations of these genes result in isolated palatal defects.
Sonic hedgehog gene
Protein that mediates ectodermal functions, might regulate
the outgrowth and fusion of the facial domains.
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
Expressed just prior to palatal fusion.
Results in isolated cleft palate.
Identified in autosomal dominant van der Woude
Several agents that are associated with an
increased frequency of midfacial malformation.
Medications —phenytoin, sodium valproate,
With corticosteroids there is no evidence of an
increase in malformations.
Possible association could not be excluded
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.
Contributes to a range of birth defects.
Evidence is emerging for a similar association with the
development of CL/P.
Diagnosed until the soft tissues of the fetal face
can be clearly visualized sonographically (13 to
The majority of infants with cleft lip also have
85% of bilateral cleft lips
70% associated with cleft palate.
Cleft palate with an intact lip comprises 27% of
The sensitivity is highest when is associated with other
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
A thorough examination of the newborn or
stillbirth is always warranted.
Orofacial clefting is noted in over 300
3 deserve additional comment.
frequency, variable presentations, and modes of
Deletion of chromosome
Spectrum in addition to cleft palate:
Conotruncal cardiac defects, thymic hypoplasia, and
Majority of cases represent a new microdeletion
In families with conotruncal malformations
and/or CP, further evaluation is appropriate.
X-linked dominant syndromes.
Manifestations in affected females are variable
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.
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
Affected relative Risk in child, percent
Cleft lip with or without cleft palate
Sibling 4 – 7%
Parent and Sibling 11 – 14%
Two Siblings 10%
Cleft palate only
Sibling 2 – 5%
Parent and sibling 14 – 17%
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
Infants with CL/P have few feeding problems.
If the cleft involves the hard palate, the infant is
usually not able to suck efficiently.
Experiment (special nipples or alternate feeding
The infant should be held in a nearly sitting
position during feeding
Prevents flowing to the back into the nose.
Should be burped frequently, (q 3-4min).
It is important to keep
the cleft clean
Activated by tongue and
Milk cannot flow back.
Replenished continuously as
the baby feeds.
Prevents the baby from
being overwhelmed with
A gentle pumping action to
the body of the nipple will
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.
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
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
Klaus & Fanaroff. “Care of the high-risk neonate”. Saunders”.
5th edition. 2001 USA.
Colin D. Rudolph “Rudolph’s Pediatrics” McGraw-Hill. 21st
edition. 2002. USA.
Christensen, K, et al. “Cleft-twin sets in Finland 1948-1987”.
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, population-based study”.
Pediatrics 1997; 100:180.
Cockell, A, Lees, M. “Prenatal diagnosis and management of
orofacial clefts”. Prenat Diagn 2000; 20:149.