Congenital Anomalies Associated With Cleft Lip and Palate—An Analysis of

1623 Consecutive Patients

P.S. Sekhon, M.D.S., M. Ethunandan, M.D.S., F.R.C.S., F.D.S.R.C.S., A.F. Markus, F.R.C.S., F.D.S.R.C.S.,
Gopal Krishnan, M.D.S., F.D.S.R.C.S., C. Bhasker Rao, M.D.S., F.D.S.R.C.S.

Objective: To document the frequency and nature of associated anomalies in

cleft lip and/or palate patients from a craniofacial center in India.
Setting: Craniofacial Surgery & Research Centre, SDM College of Dental
Sciences & Hospital, Dharwad, India.
Patients/Participants: A total of 1623 consecutive patients with cleft lip and/or
cleft palate treated in a 40-month period.
Main Outcome Measure: Frequency and nature of associated anomalies,
analyzed according to the cleft type and principal organ system and/or area
affected.
Results: The overall male to female ratio was 1.8:1. Unilateral cleft lip with
cleft palate (41%) was the most frequent cleft subtype, followed by cleft lip and/
or cleft alveolus (33%); isolated submucous cleft palate (1%) was the least
frequent. A total of 240 (14.8%) patients had associated anomalies, and these
were more frequent in males (M:F = 1.4:1). Per patient, anomalies were most
frequent in the submucous cleft group (mean, 0.53) and least common in the
cleft lip with or without cleft alveolus (mean, 0.14). Anomalies were most
frequent in the facial region (21%), followed by the ocular (17%), central nervous
(15%), gastrointestinal (3%), and urogenital (2%) systems. Thirty-four patients
(2%) had recognized nonchromosomal syndromes; this was more common in
the cleft palate group.
Conclusions: Associated anomalies are not uncommon in patients with cleft
lip and/or palate, though the frequency varies with the cleft type and organ
system affected.

KEY WORDS: cleft lip, cleft palate, congenital anomalies, congenital malforma-
tions, submucous cleft

Cleft lip and/or cleft palate (CL/P) is a common birth
defect and often occurs in isolation with a prevalence of
approximately 9.1 per 10,000, varying with the specific type
of cleft, geographic location, ethnic group, and socioeco-
nomic conditions (Calzolari et al., 2007). Though its
association with other malformations has been long
recognized, with a reported frequency between 3% and
63%, these variations are often considered a reflection of
the peculiarities of data collection (Åbyholm, 1978a, 1978b;
Dr. Sekhon is postgraduate student, SDM College of Dental Sciences
and Hospital, Dharwad, India. Dr. Ethunandan is Consultant, Oral and
Maxillofacial Surgery, St. Richard’s Hospital, Chichester, United
Kingdom. Dr. Markus is Consultant, Oral and Maxillofacial Surgery,
Poole General Hospital, Poole, United Kingdom. Dr. Krishnan and
Dr. Rao are Professors, Oral and Maxillofacial Surgery, SDM College of
Dental Sciences and Hospital, Dharwad, India.
Submitted January 2010; Accepted June 2010.
Address correspondence to: Dr. M. Ethunandan (Dr. A.F. Markus),
Department of Oral and Maxillofacial Surgery, Poole General Hospital,
Longfleet Road, Poole, Dorset, BH15 2JB, United Kingdom. E-mail
mgethu@hotmail.com.
DOI: 10.1597/09-264
Pashayan, 1983; Shprintzen et al., 1985; Lilius, 1992;
Kallen et al., 1996; Hagberb et al., 1997; Milerad et al.,
1997; Christensen, 1999; Yi et al., 1999; Rajabian and
Sherkat, 2000; Stoll et al., 2000; Natsume et al., 2001; Shafi
et al., 2003; Al Omari and Al Omari, 2004; Sarkozi et al.,
2005; Wyszynski et al., 2006; Calzolari et al., 2007; Rittler
et al., 2007; Alijohar et al., 2008; Rawashdeh and Abu-
Hawas, 2008; Beriaghi et al., 2009).
Establishing an accurate relationship between CL/P and
other malformations is important for several reasons. It can
improve screening, evaluation, and, therefore, appropriate
treatment of these conditions in departments dealing
with CL/P due to increased vigilance on the part of the
providers. In addition, corroboration of CL/P with asso-
ciated congenital anomalies may lead to a greater under-
standing of the embryonic phenomena underlying the
malformation process.
Most reports in the literature emanate from Europe and
North America, with a great paucity of information from
Asia (Yi et al., 1999; Rajabian and Sherkat, 2000; Natsume
et al., 2001; Shafi et al., 2003; Alijohar et al., 2008;
Rawashdeh and Abu-Hawas, 2008) and specifically the
Indian subcontinent. Recent studies suggest that between

371
372 Cleft Palate–Craniofacial Journal, July 2011, Vol. 48 No. 4
27,000 and 33,000 infants are born with CL/P every year in
India (Mossey and Little, 2009), but there is no reliable
information about the frequency of associated anomalies in
this population. Furthermore, it is currently unknown if
there are any similarities in the type and frequency of
anomalies in the Asian population.
The aim of this study was to report the frequency of
associated anomalies in a large group of consecutive CL/P
patients treated in a craniofacial unit in India, paying
particular attention to the specific types of anomalies and
syndromes and their frequency in the various cleft
subtypes.
MATERIALS AND METHODS
We undertook a retrospective analysis of a prospectively
collected database of all CL/P patients managed in the
Craniofacial Surgery and Research Centre at the SDM
College of Dental Sciences and Hospital, Dharwad, India,
during a 40-month period between August 2001 and
December 2004. Many of these patients were managed in
the unit under the auspices of the Smile Train project.
Local ethics committee approval was obtained for the
study.
A total of 1623 patients were treated during the 40-
month period and form the basis of the study. Data
collected included the sex of the patient, type of cleft, and
presence of associated anomalies and syndromes. All
patients with craniofacial anomalies without CL/P were
excluded, as were patients with recognized chromosomal
abnormalities. Dental malformations were not included in
the evaluation data set.
A simple descriptive classification was used to record the
cleft type, and the CL/P patients were divided into cleft lip
with or without cleft alveolus, unilateral and bilateral cleft
lip with cleft palate, isolated cleft palate, and submucous
cleft palate.
The associated malformations were classified according
to the principal organ system and/or area affected (facial,
ocular, central nervous system, cardiovascular, auricular,
upper and lower extremity, urogenital, gastrointestinal, and
miscellaneous). The frequency of nonchromosomal syn-
dromes was documented also. A multiple malformation
was deemed to be present if more than two organ systems
were affected.
The diagnosis of learning difficulties was based on the
clinical impressions and expert opinions of the pediatri-
cians, anesthetists, psychologists, and speech therapists on
the team, and with older children, their parents assisted as
well.
The evaluation of associated malformations was based
on a thorough history and physical examination, hemato-
logical investigation, evaluation of chest x-ray by a
radiologist in addition to two-dimensional echocardio-
gram, computed tomography, and/or MRI scans, as
indicated by preliminary evaluation.
RESULTS
A total of 1623 CL/P patients were managed during the
study period. There were 1035 (64%) males and 588 (36%)
females, with a male to female ratio of 1.8:1.
The demographic details and frequency of the various
clefts are highlighted in Table 1. Unilateral cleft lip with
cleft palate (669 patients, 41%) was the most frequent
subtype, followed by cleft lip with or without a cleft
alveolus (533 patients, 33%). Submucous cleft palate (15
patients, 1%) was the least frequent cleft type.
There were 240 (14.8%) patients with associated malfor-
mations, which were more frequent in males (139 patients,
58%; M:F 5 1.4:1). Associated anomalies were most
frequent in the unilateral cleft lip with palate group (89
patients, 37%), followed by isolated cleft palate (54
patients, 23%); they were least common in the submucous
cleft group (eight patients, 3%) (Table 1).
The total number of malformations in this group was
434, with a single anomaly present in 79 patients, two
anomalies in 105 patients, and three or more anomalies in
56 patients. Anomalies per patient were most frequent in
the submucous cleft group (mean, 0.53), followed by the
bilateral cleft lip and palate group (mean, 0.51); patients
who had cleft lip with or without cleft alveolus had the least
number of anomalies (mean, 0.14) (Table 2).
The different organ systems affected by associated
anomalies are outlined in Tables 3 through 12, in relation
to the cleft subtype. Anomalies were most frequent in the
facial region (93 patients, 21%), followed by the ocular (75
patients, 17%), central nervous (65 patients, 15%), and
gastrointestinal (12 patients, 3%) systems. Anomalies were
least common in the urogenital system (nine patients, 2%)
(Tables 2 through 12).
Thirty-four patients were found to have 14 different
recognized nonchromosomal syndromes and accounted for
2% of all patients (Table 13). Of these, 21 were in the cleft
palate group, and 13 were in the cleft lip with or without
cleft palate group.
DISCUSSION
The frequency and type of associated anomalies in a
patient with a CL/P can have significant implications for
the management of the particular individual and the care
provided for the whole group. The reported incidence of
associated anomalies in the literature varies from 1.5% to
63% (Åbyholm, 1978a, 1978b; Pashayan, 1983; Shprintzen
et al., 1985; Lilius, 1992; Kallen et al., 1996; Hagberb et al.,
1997; Milerad et al., 1997; Christensen, 1999; Yi et al.,
1999; Rajabian and Sherkat, 2000; Stoll et al., 2000;
Natsume et al., 2001; Shafi et al., 2003; Al Omari and Al
Omari, 2004; Calzolari et al., 2007; Alijohar et al., 2008;
Rawashdeh and Abu-Hawas 2008). In the present study the
frequency of associated anomalies was 14.8% and is
comparable with the 11.5%, 18%, and 14.3% reported by
 Sekhon et al., CONGENITAL ANOMALIES WITH CLEFT LIP/PALATE 373

TABLE 1 Demography of Cleft Types and Associated Anomalies

No. (%) With Clefts (N 51623) No. (%) With Associated Anomalies (N 5 240)

Male Female Total Male Female Total

Cleft lip with or without cleft

alveolus 302 (19) 231 (14) 533 (33) 29 (12) 12 (5) 41 (17)
Unilateral cleft lip with cleft palate 510 (31) 159 (10) 669 (41) 63 (26) 26 (11) 89 (37)
Bilateral cleft lip with cleft palate 148 (9) 59 (4) 207 (13) 31 (13) 17 (7) 48 (20)
Submucous cleft palate 6 (0.4) 9 (0.6) 15 (1) 2 (0.8) 6 (3) 8 (3)
Isolated cleft palate 69 (4) 130 (8) 199 (12) 14 (6) 40 (17) 54 (23)
Total 1035 (63) 588 (37) 1623 (100) 139 (57) 101 (43) 240 (100)

Åbyholm (1978a, 1978b), Al Omari and Al Omari (2004),
and Rawashdeh and Abu-Hawas (2008), respectively, but
less than the 63.4%, 22.3%, 21%, 36.7%, 29%, 29.2%, and
29.5% reported by Shprintzen et al. (1985), Hagberg et al.
(1997), Milerad et al. (1997), Stoll et al. (2000), Shafi et al.
(2003), Calzolari et al. (2007), and Alijohar et al. (2008),
respectively.
When our results (14.8%) were compared with studies
from Asia, the frequency of associated anomalies was
similar to the 18% and 14.3% reported by Al Omari and Al
Omari (2004) and Rawashdeh and Abu-Hawas (2008),
respectively, but less than the 20% and 20.5% in reports by
Shafi et al. (2003) and Alijohar et al. (2008), respectively,
and more than the 1.5% and 7.7% reported by Yi et al.
(1999) and Rajabian and Sherkat (2000), respectively.
There does not seem to be any obvious similarities in the
frequency of associated anomalies among the studies from
Asia.
It has long been recognized that methodological factors
could account for the variations in the reported frequency
of associated anomalies in cleft patients. Wyszynski et al.
(2006) concluded that the differences could be due to (1)
differences in case definition and inclusion/exclusion
criteria; (2) length of time after birth that cases are
examined; (3) variability of clinical expression of associated
anomalies; (4) knowledge and technology available to
produce syndrome delineation; (5) selection of patients,
sources of ascertainment, and sample size; and (6) true
population differences and changes in frequency over time.
The shortcomings of our study include the absence of a
designated dysmorphologist to assess the patients, varying
ages at presentation, and inability to assess changes in
frequency of anomalies over a time period. By documenting
a nonselected consecutive series of 1623 patients with CL/P,
this study would have overcome at least some of the case
selection bias. Though hospital-based studies have often
reported a higher frequency of associated anomalies in the
cleft population, our study from a craniofacial unit is more
in keeping with the reports from population-based studies.
This is unlikely to be a result of underreporting because the
data were prospectively collected in a unit treating a large
number of CL/P patients, with specialists from different
disciplines seeing the patients and with appropriate access
to additional investigations. The difference is more likely to
represent the designation of and diligence in reporting an
anomaly. A multicenter study can mitigate some of the
shortcomings but is also prone to bias, and a population-
based prevalence study with appropriate support remains
the criterion standard.
Our study confirms a tendency toward overall male
predominance (M:F 5 1.8:1), in addition to a male
predominance in the CL/P group (2.1:1) and a female
predominance in the cleft palate–only group (M:F 5 1:1.9).
This is similar to previous reports in the literature (Lilius,
1992; Hagberg et al., 1997; Al Omari and Al Omari, 2004;
Calzolari et al., 2007; Alijohar et al., 2008; Rawashdeh and
Abu-Hawas, 2008). Associated anomalies were more
frequent in males (M:F 5 1.4:1) in our study, and the
ratio differs from the 1:1, 1:1.1, 0.9:1, and 1:1.3 reported by
Lilius (1992), Hagberg et al. (1997), Shafi et al. (2003), and
Rawashdeh and Abu-Hawas (2008), respectively.
A total of 434 anomalies were detected in 240 patients in
our study, a mean 1.8 anomalies per proband, similar to the
frequencies reported by Åbyholm (1978a, 1978b; 260
anomalies in 178 patients; mean, 1.5) and Lilius (1992;
560 anomalies in 345 patients; mean, 1.6) but fewer than
the frequency reported by Calzolari et al. (2007; 4367 in
1589 patients; mean, 2.7).
The organ system/area most commonly affected by
associated anomalies in a CL/P patient varies in the
reported literature. In the present study, facial anomalies
(21%) were most frequently detected, followed by ocular
(17%), central nervous system (15%), lower and upper
extremities (15%), and cardiovascular (10%). In general,
most studies reported associated anomalies to be more
frequent in the extremities, cardiovascular and central
nervous systems, and the facial region, though the specific
frequency of the individual system/area involved varied
(Åbyholm, 1978a, 1978b; Shprintzen et al., 1985; Lilius,
1992; Milerad et al., 1997; Stoll et al., 2000; Shafi et al.,
2003; Calzolari et al., 2007; Alijobar et al., 2008;
Rawashdeh and Abu-Hawas, 2008). It is therefore imper-
ative that particular attention be focused on these areas
when assessing a CL/P patient.
When the frequency of individual cleft subtypes was
analyzed in patients with associated anomalies, we found
them to be most frequent in unilateral cleft lip and palate
patients (37%), followed by patients with isolated cleft
palate (23%), bilateral cleft lip with palate (20%), cleft lip
with or without alveolus (17%), and submucous cleft palate
374 Cleft Palate–Craniofacial Journal, July 2011, Vol. 48 No. 4

(3%), which was the smallest group. This may be a

reflection of the differences in the total number of cases in

Anomalies
each category. When the frequency of associated malforma-

8.3
8.3
6.2
9.4
2.8
2.1
9.2
21.4
17.3
% of

15

100
tions was analyzed according to the specific cleft subtype,
submucous cleft patients (53%) were most often affected,
followed by isolated palate (27%), bilateral cleft lip and
palate (23%), unilateral cleft lip and palate (13%), and cleft
lip with or without alveolus (7.7%). These findings are
of Anomalies
Total No.

similar to those reported previously (Shprintzen et al., 1986;

93
75
65
36
36
27
41
12

40
434
9
Milerad et al., 1997; Stoll et al., 2000; Shafi et al., 2003;
Alijohar et al., 2008; Rawashdeh and Abu-Hawas, 2008) and
confirm the tendency for associated malformations to be
more frequent in patients with cleft palate compared with
isolated cleft lip without cleft palate. Rittler et al. (2008)
Cleft Palate

reported positive associations between oral clefts and

Isolated

0.42
anencephaly, encephaloceles, club feet, and ear anomalies
24

14

85
7

9
8
8
6
1
1
7

and found negative associations with other anomalies. They

reported that the differing pattern of defects associated with
cleft lip (CL) and cleft lip with palate (CLP) suggest that CL
and CLP reflect more than just variable degrees of severity
Cleft Palate
Submucous

and that distinct pathways might be involved. Though not

0.53

specifically analyzed, this pattern of associated anomalies

1
0
3
1
1
0
2
0
0
0
8

was not obvious in our study.

The number of anomalies per patient was most frequent
in the submucous cleft palate group (mean, 0.53), followed
by patient groups bilateral cleft lip and palate (mean, 0.51),
Bilateral Cleft Lip
With Cleft Palate

isolated cleft palate (mean, 0.42), and unilateral cleft lip

0.51

with cleft palate (mean, 0.23). The lowest frequency was

106
9
9
9

4
4
9
23
18

10
11

found in the group with the least severe cleft deformity,

cleft lip with or without cleft alveolus (mean, 0.14). Lilius
(1992) also found that patients with isolated cleft lip
without cleft palate had the least number of associated
Lip With Cleft Palate

anomalies (mean, 0.14), with patients with bilateral (mean,

Unilateral Cleft

1.04) and unilateral (mean, 0.42) cleft lip and palate having
0.23

the most anomalies. However, unlike our study, there was a

156
7

4
4
29
30
24
14
12

17

15

smaller frequency of associated anomalies in submucous

cleft palate patients (mean, 0.21).
Thirty patients (2.1%) in our study were found to have
Summary Cleft Types and Associated Anomalies

recognized nonchromosomal syndromes: 13 (0.8%) in the

Without Cleft Alveolus
Cleft Lip With or

cleft lip with or without a cleft palate group and 21 (1.3%)

in the cleft palate group. This is similar to the overall
0.14

frequencies of 2.6% and 3.2% reported by Milerad et al.

16
20
15

79
3
6
2
5
3
0
9

(1997) and Stoll et al. (2000), respectively, but less than the
8.4% reported by Lilius (1992). Our study also confirms the
increased frequency of recognized nonchromosomal syn-
dromes in the cleft palate group compared with the cleft lip
Miscellaneous (including neck and chest)

group (Shprintzen et al., 1985; Lilius, 1992), though the

frequency of syndromes in the cleft palate group was less
than those reported in the literature (Shprintzen et al.,
Site of Anomalies

1985; Lilius, 1992).

Central nervous system

Total no. of anomalies

The 13 different recognized nonchromosomal syndromes

were identified in the present study, of which the most
Lower extremities
Upper extremities

Gastrointestinal
Cardiovascular

common were Pierre-Robin (eight), hemifacial microsomia

TABLE 2

Urogenital

(six), and van der Woude syndrome (five). This is similar to

Auricular
Ocular

reports from previous studies (Lilius, 1992; Milerad et al.,

Facial

Mean

1997).
 Sekhon et al., CONGENITAL ANOMALIES WITH CLEFT LIP/PALATE 375

TABLE 3 Facial Anomalies

Cleft Lip With or Unilateral Cleft Lip Bilateral Cleft Lip Submucous Isolated
Without Cleft Alveolus With Cleft Palate With Cleft Palate Cleft Palate Cleft Palate

Dysmorphic facial features 2 2 5 1 4

Hydrocephalus 0 0 2 0 1
Skull defects 1 2 1 0 2
Hypertelorism 3 8 4 0 3
Microcephaly 0 2 1 0 0
Hemifacial microsomia 0 1 1 0 2
Nasal deformities 0 1 1 0 1
Craniosynostosis 0 0 2 0 0
Macroglossia 1 1 0 0 3
Frontal bossing 1 2 1 0 0
Telecanthus 1 4 1 0 1
Delayed closure of fontanelle 1 1 0 0 0
Brachycephaly 1 1 0 0 0
Bifid nose 2 0 0 0 1
Mandibular retrognathia 0 1 0 0 5
Midface hypoplasia 1 0 0 0 0
Mongoloid features 0 2 2 0 0
Antimongoloid slant 0 0 2 0 1
Macrocephaly 1 1 0 0 0
Hypotelorism 1 0 0 0 0
Total 16 29 23 1 24

CONCLUSION of medical and surgical care to the patient with a cleft

The available data and studies on associated malforma-
tions in children with clefts from Asia in general and India
in particular are few and inadequate. Some of these mal-
formations and anomalies, if undetected, can prove poten-
tially life threatening, particularly during administration
deformity.
The significantly higher risk of associated malformations
in children with clefts needs to be highlighted and
disseminated to health professionals involved in looking
after children with clefts. The presence of facial dysmorphic
features along with ocular anomalies in a child with cleft lip

TABLE 4 Ocular Anomalies

Cleft Lip With or Without Cleft Unilateral Cleft Lip With Bilateral Cleft Lip With Submucous Cleft Isolated Cleft
Alveolus Cleft Palate Cleft Palate Palate Palate

Anopthalmia with agenesis of

lacrimal duct 0 1 0 0 0
Agenesis of lacrimal duct 0 1 0 0 0
Dacryostenosis 1 1 0 0 0
Ptosis 2 1 0 0 0
Strabismus 7 7 2 0 2
Epicanthus 1 1 0 0 0
Limbal dermoid with
coloboma 1 0 0 0 0
Cataract 1 2 0 0 0
Anophthalmia 1 0 0 0 1
Anophthalmia and
blepharophimosis 0 1 0 0 0
Coloboma 2 2 1 0 0
Bilateral coloboma 0 2 2 0 0
Blepharophimosis 1 1 1 0 0
Myopia 0 1 0 0 1
Exophthalmos 0 0 1 0 0
Dermoid 1 3 1 0 0
Glaucoma 0 0 2 0 0
Microphthalmia 0 2 2 0 1
Blindness 1 0 2 0 2
Corneal opacity 0 4 2 0 0
Absent conjuctiva 0 0 1 0 0
Dystopia 1 0 0 0 0
Amblyopia 0 0 1 0 0
Total 20 30 18 0 7
376 Cleft Palate–Craniofacial Journal, July 2011, Vol. 48 No. 4

TABLE 5 Central Nervous System Anomalies

Cleft Lip With or Unilateral Cleft Lip Bilateral Cleft Lip Submucous Cleft Isolated Cleft
Without Cleft Alveolus With Cleft Palate With Cleft Palate Palate Palate

Learning difficulties 6 9 2 1 4
Epilepsy 3 4 0 1 2
Encephalocele alone 0 0 0 0 1
Cerebral and cerebellar dysgenesis 0 1 0 0 0
Holoprosencephaly 2 0 0 0 0
Cerebellar hypoplasia 0 0 1 0 0
Agenesis of corpus callosum 1 0 0 0 0
Meningomyelocele 0 1 0 0 2
Spina bifida 0 1 1 0 1
Spasticity 0 1 1 0 0
Congenital deafness 0 2 2 1 2
Cerebral atrophy 0 2 0 0 1
Delayed milestones 2 3 1 0 1
Cerebral palsy 1 0 0 0 0
Total 15 24 9 3 14

TABLE 6 Auricular Anomalies

Cleft Lip With or Without Unilateral Cleft Lip Bilateral Cleft Lip Submucous Isolated Cleft
Cleft Alveolus With Cleft Palate With Cleft Palate Cleft Palate Palate

Deformed auricle and atresia of external meatus 0 2 0 1 0

Atresia of the external meatus alone 0 0 1 0 0
Deformed auricle alone 1 3 2 0 4
Preauricular tag 1 2 1 0 2
Low-set ears 1 7 4 0 2
Agenesis of auricle 0 0 1 0 0
Auricular asymmetry 0 0 0 0 1
Total 3 14 9 1 9

TABLE 7 Upper Limb Anomalies

Cleft Lip With or Without Unilateral Cleft Lip Bilateral Cleft Lip Submucous Cleft
Cleft Alveolus With Cleft Palate With Cleft Palate Palate Isolated Cleft Palate

Syndactyly 1 2 2 0 2
Aplasia of radius 0 1 1 0 0
Constriction bands around hand 0 0 2 0 0
Polydactyly 1 3 0 0 4
Clinodactyly 0 1 2 0 0
Deformed digits 0 2 0 1 0
Fingernail deformities 0 0 0 0 2
Simian crease 3 3 1 0 0
Ectrodactyly 1 0 0 0 0
Cleidocranial dysostosis 0 0 1 0 0
Total 6 12 9 1 8

TABLE 8 Lower Limb Anomalies

Cleft Lip With or Without Unilateral Cleft Lip Bilateral Cleft Lip Submucous Cleft Isolated Cleft
Cleft Alveolus With Cleft Palate With Cleft Palate Palate Palate

Constriction bands around legs 0 0 2 0 0

Club foot 1 2 3 0 1
Syndactyly 1 1 0 0 2
Polydactyly 0 3 0 0 1
Ectrodactyly 0 0 2 0 0
Deformed toes 0 0 2 0 1
Deformed foot 0 1 1 0 1
Deformed toenails 0 0 0 0 2
Total 2 7 10 0 8
 Sekhon et al., CONGENITAL ANOMALIES WITH CLEFT LIP/PALATE 377

TABLE 9 Cardiovascular Anomalies

Cleft Lip With or Without Unilateral Cleft Lip Bilateral Cleft Lip Submucous Cleft Isolated Cleft
Cleft Alveolus With Cleft Palate With Cleft Palate Palate Palate

Acyanotic heart disease

Atrial septal defect 0 4 2 0 3
Ventricular septal defect 0 3 2 1 0
Persistent ductus arteriosis 0 0 2 0 0
Cyanotic heart disease
Tetralogy of Fallot 2 0 2 1 1
Ebstein anomaly 1 1 0 0 0
Congenital valvular disease
Mitral valve prolapse 1 0 1 0 0
Pulmonary aneurysm 0 1 0 0 0
Pulmonary stenosis 1 0 0 0 0
General
Dextrocardia 0 2 0 0 2
Ventricular hypertrophy 0 4 1 0 0
Pleuropericardial cyst 0 1 0 0 0
Cardiac tumor with ventricular hypertrophy 0 1 0 0 0
Cardiomegaly 0 1 1 0 0
Total 5 17 11 2 6

TABLE 10 Gastrointestinal Anomalies

Cleft Lip With or Without Unilateral Cleft Lip Bilateral Cleft Lip Submucous Cleft Isolated Cleft
Cleft Alveolus With Cleft Palate With Cleft Palate Palate Palate

Diaphragmatic hernia 1 1 1 0 0
Anal fistula 0 1 1 0 1
Megacolon 0 0 1 0 0
Umbilical hernia 2 2 0 0 0
Total 3 4 4 0 1

TABLE 11 Urogenital Anomalies

Cleft Lip With or Without Unilateral Cleft Lip Bilateral Cleft Lip Submucous Cleft Isolated Cleft
Cleft Alveolus With Cleft Palate With Cleft Palate Palate Palate

Cryptorchism 0 1 1 0 1
Micropenis 0 1 1 0 0
Congenital pelvic uterine dysjunction 0 1 0 0 0
Polycystic kidney 0 0 1 0 0
Horseshoe kidney 0 1 0 0 0
Dysplastic kidney 0 0 1 0 0
Total 0 4 4 0 1

TABLE 12 Miscellaneous Anomalies

Cleft Lip With or Without Unilateral Cleft Lip Bilateral Cleft Lip Submucous Cleft Isolated Cleft
Cleft Alveolus With Cleft Palate With Cleft Palate Palate Palate

Lobulated spleen 0 0 0 0 1
Hypoplastic lung 1 0 0 0 0
Cervical rib 5 7 2 0 2
Hemivertebrae 2 4 3 0 1
Fused vertebrae 1 0 0 0 1
Scoliosis 0 1 0 0 0
Kyphoscoliosis 0 1 2 0 1
Synostosis of ribs 0 1 0 0 1
Deformed vertebrae 0 0 1 0 0
Hypoplastic rib 0 1 0 0 0
Calcified costal cartilage 0 0 1 0 0
Total 9 15 9 0 7
378 Cleft Palate–Craniofacial Journal, July 2011, Vol. 48 No. 4

TABLE 13 Clefts Associated With Recognized REFERENCES

Nonchromosomal Syndromes
Åbyholm FE. Cleft lip and palate in Norway. Scand J Plast Reconstr
No. With Cleft Lip No. With Any
(With or Without Form of Cleft Total No. Surg. 1978a;12:29–34.
Syndrome Cleft Palate) Palate (%) Åbyholm FE. Cleft lip and palate in a Norwegian population.
Scand J Plast Reconstr Surg. 1978b;12:35–43.
Amniotic band syndrome 2 0 2 (0.12) Al Omari F, Al-Omari IK. Cleft lip and palate in Jordan: birth prevalence
Bencze 0 1 1 (0.06)
rate. Cleft Palate Craniofac J. 2004;41:609–612.
Blepharophimosis 1 0 1 (0.06)
Cleidocranial dysostosis 1 0 1 (0.06) Beriaghi S, Myers SL, Jensen SA, Kaimal S, Chan CM, Schaefer GB.
Ectodermal dysplasia 0 2 2 (0.12) Cleft lip and palate: association with other congenital malformations.
Hemifacial microsomia 3 3 6 (0.37) J Clin Pediatr Dent. 2009;33:207–210.
Klippel-Feil 0 2 2 (0.12) Calzolari E, Pierini A, Astolfi G, Bianchi F, Neville AJ, Rivieri F,
Median cleft 2 0 2 (0.12) EUROCAT working group. Associated anomalies in multi-malformed
Oro-facial-digital 1 0 1 (0.06) infants with cleft lip and palate: an epidemiologic study of nearly 6
Pierre Robin 0 8 8 (0.5) million births in 23 EUROCAT registries. Am J Med Genet A.
Treacher Collins 0 2 2 (0.12) 2007;143A:528–537.
Ulrich-Frietigen 1 0 1 (0.06)
Christensen K. The 20th-century Danish facial cleft population—
Van der Woude 2 3 5 (0.3)
Total 13 21 34 (2.1) epidemiological and genetic-epidemiological studies. Cleft Palate
Craniofac J. 1999;36:96–104.
Hagberg C, Larson O, Milerad J. Incidence of cleft lip and palate and
risks of additional malformations. Cleft Palate Craniofac J. 1997;35:
or palate should raise suspicion of an associated malfor- 40–45.
mation. Close cooperation among several specialists is of Kallen B, Harris J, Robert E. The epidemiology of orofacial clefts. 2.
Associated malformations. J Craniofac Genet Dev Biol. 1996;16:
importance in order to comprehensively cover all aspects of 242–248.
these often complicated cases. Routine screening for Lilius GP. Clefts with associated anomalies and syndromes in Finland.
various malformations (especially cardiac, central nervous Scand J Plast Reconstr Hand Surg. 1992;26:185–196.
system, ocular, and facial defects) may need to be Mazzola RF. Congenital malformations in the frontonasal area: their
pathogenesis and classification. Clin Plast Surg. 1976;3:573–609.
considered in infants with clefts.
Milerad J, Larson O, Hagberg C, Ideberg M. Associated malformations in
In the present study it was observed that the incidence of infants with cleft lip and palate: a prospective, population-based study.
anomalies decreased along the cephalocaudal gradient, Pediatrics. 1997;100:180–186.
indicating the complexity of craniofacial embryogenesis Natsume N, Niimi T, Furukawa H, Kawai T, Ogi N, Suzuki Y, Kawai T.
and morphogenesis in which a single, disruptive factor Survey of congenital anomalies associated with cleft lip and/or palate
in 701,181 Japanese people. Oral Surg Oral Med Oral Pathol Oral
could lead to multiple, cascading, detrimental effects. Also, Radiol Endod. 2001;91:157–161.
a specific relationship between the type of cleft and the Pashayan HM. What else to look for in a child born with a cleft of the lip
accompanying anomaly could not be established, suggest- and/or palate. Cleft Palate J. 1983;20:54–82.
ing that the facial clefts and the associated malformations Rawashdeh MA, Abu-Hawas BJ. Congenital associated malformations in
a sample of Jordanian patients with cleft lip and palate. J Oral
could occur in any permutation and combination with one
Maxillofac Surg. 2008;66:2035–2041.
another. Rittler M, Lopez-Camela JS, Castilla EE, Bermejo E, Cocchi G,
Genetic counseling and studies are important in every Correa A, Csaky-Szunyogh M, Danderfer R, De Vigan C, De Walle
case of cleft, especially so those in which associated H, da Graca Dutra M. Preferential association between oral cleft and
anomalies are present. It is also important for research on other major congenital anomalies. Cleft Palate Craniofac J. 2008;45:
525–532.
the etiology of clefts that the clefts with associated Sarkozi A, Wyszynski DF, Czeizel AE. Oral clefts with associated
anomalies and syndromes be reported separately from the anomalies: findings in the Hungarian Congenital Abnormality
solitary clefts, because they differ in their etiologies and Registry. BMC Oral Health. 2005;5:4–15.
pathogenesis, with altered treatment approaches for the Shafi T, Khan MR, Atiq M. Congenital heart disease and associated
malformations in children with cleft lip and palate in Pakistan.
two.
Br J Plast Surg. 2003;56:106–109.
Further progress and studies in any field are possible Shprintzen RJ, Siegel-Sadewitz VL, Amato J, Goldberg RB. Anomalies
only by substantial observation, documentation, and associated with cleft lip, cleft palate or both. Am J Med Genet.
analysis of clinical data. The development of craniofacial 1985;20:585–595.
surgery was promoted by major studies, such as those by Stoll C, Alembik Y, Dott B, Roth MP. Associated malformations in cases
with oral clefts. Cleft Palate Craniofac J. 2000;37:41–47.
Tessier (1976) and Mazzola (1976). The present study Tessier P. Anatomical classification facial, cranio-facial and later-facial
attempts to contribute to the emerging body of literature. It clefts. J Maxillofac Surg. 1976;4:69–92.
is hoped that it will provide a platform for advanced Wyszynski DF, Sarkozi A, Czeizel AE. Oral clefts with associated
research on chromosomal, genetic, familial, or any other anomalies: methodological issues. Cleft Palate Craniofac J. 2006;43:
1–6.
study related to cleft patients that will guide and help many
Yi NN, Yeow VK, Lee ST. Epidemiology of cleft lip and palate in
clinicians to provide comprehensive care for the benefit of Singapore—a 10-year hospital-based study. Ann Acad Med Singapore.
these patients and their families. 1999;28:655–659.
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