Edited by: Tecnológico Superior Corporativo
Edwards Deming
January - March Vol. 6 - 2 - 2023
https://revista-edwardsdeming.com/index.php/es
e-ISSN: 2576-0971
Received: December 08, 2022
Approved: May 22, 2023
Page 54-68
Cleft lip and palate. Review of the literature.
Fisuras labio palatinas. Revisión de la literatura
Jessica Paola Duchi Valdez
*
Viviana Daniela Abad Freire
*
Mariela del Carmen Ramírez Velásquez
*
ABSTRACT
Cleft lip and palate are among the most frequent congenital
malformations worldwide. In Latin America, their
prevalence is approximately 1 in 1000 live births. The aim
of this article is to provide specific information on the
etiology, classification, complications, diagnosis and
treatment of cleft lip and palate. An electronic search was
performed in: PubMed, Lilacs, SciELO and Google Scholar,
the following keywords were used for the search: "cleft
palate", "cleft lip", "cleft lip and palate" "congenital
anomalies" obtained from Decs, and related with Boolean
operators AND and OR. The results show that the
malformation develops within the first trimester of
gestation, during craniofacial development and is produced
by the lack of fusion between the facial prominences, its
etiology is multifactorial and is related to genetic and
environmental factors, and because this alteration affects
several anatomical structures, its treatment should be
multidisciplinary to avoid various complications that occur
in these children during their first months of life. In
conclusion, it is important that the health professional has
previous knowledge and is able to make a timely diagnosis,
in addition to educating pregnant mothers.
Keywords: Cleft palate, cleft lip, cleft lip and palate,
congenital anomalies.
* Odontóloga, Carrera de Odontología, Universidad Católica de Cuenca,
Azogues, Ecuador. jpduchiv18@est.ucacue.edu.ec
https://orcid.org/0000-0002-4669-0815
* Especialista en Odontopediatría, Carrera de Odontología, Universidad
Católica de Cuenca, Azogues, Ecuador. viviana.abad@ucacue.edu.ec
https://orcid.org/0000-0002-1347-8148
* Doctora en Ciencias Odontológicas, Carrera de Odontología, Universidad
Politécnica Salesiana del Ecuador, Cuenca, Ecuador. mcramirez70@yahoo.es
https://orcid.org/0000-0001-7041-4346
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e-ISSN: 2576-0971
RESUMEN
Las fisuras labio palatinas se encuentran dentro de las
malformaciones congénitas más frecuentes a nivel mundial.
En Latinoamérica, su prevalencia es aproximadamente de 1
en 1000 nacidos vivos. El objetivo de este artículo es
brindar información concreta sobre la etiología,
clasificación, complicaciones, diagnóstico y tratamiento de
las fisuras labio palatinas. Se realizó una búsqueda
electrónica en: PubMed, Lilacs, SciELO y Google Scholar,
se utilizaron para la pesquisa las palabras clave: “Fisura del
paladar”, “Labio hendido”, “labio y paladar fisurado”
“anomalías congénitas” obtenidas de los Decs, y
relacionados con operadores booleanos AND y OR. Los
resultados demuestran que la malformación se desarrolla
dentro del primer trimestre de gestación, durante el
desarrollo craneofacial y se produce por la falta de fusión
entre las prominencias faciales, su etiología es multifactorial
y está relacionada con factores genéticos y ambientales, y
debido a que esta alteración afecta varias estructuras
anatómicas, su tratamiento debe ser multidisciplinario para
evitar diversas complicaciones que se presentan en estos
niños durante sus primeros meses de vida. Concluyendo
que es importante que el profesional de la salud tenga
conocimientos previos y sea capaz de realizar un
diagnóstico oportuno, además de educar a las madres
gestantes.
Palabras clave: Fisura del paladar, Labio hendido, labio y
paladar fisurado, anomalías congénitas.
INTRODUCTION
Since the end of the 20th century, diseases with a genetic component have been a major
cause of disease and death in the Western world.1.
An adequate embryonic and fetal development is mandatory to avoid different
pathologies that are associated with childhood, for example, congenital anomalies, which
have a high mortality rate. For this reason, during this period it is necessary to maintain
an adequate gestational control, since these disorders can be diagnosed during
pregnancy.2.
The World Health Organization (WHO) determined that orofacial clefts affect
approximately 1 in every 1,000 live newborns in the world.
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e-ISSN: 2576-0971
the world, showing a great predominance at world level3. In 2015, a systematic study
was conducted about the global prevalence of oral cleft births, in which study it was
determined that there are 0.99 to 1 cases of cleft lip and palate (FLP) in South America
per 1,000 live births. It is important to mention that most underdeveloped countries do
not have surveillance systems for congenital defects and orofacial clefts, which is why
they do not obtain accurate data and may be subject to biases, which is why it is
recommended to develop these systems to prevent congenital defects.4.
Cleft lip and palate is a congenital malformation that affects the anatomical,
morphological and functional structure of the fetus and is detected during gestation, at
birth or later in life.5This malformation occurs most frequently in the craniofacial massif
and constitutes alterations in the structure of the embryo as a result of the poor fusion
that occurs between some craniofacial structures that form the primary and secondary
palate from the sixth and eighth gestational week.6.
This anomaly is of multifactorial etiology and produces several complications in the baby,
such as feeding problems (breastfeeding, malnutrition), dental anomalies, nasal voice,
hearing, etc.7. In addition to being a facial malformation, it will represent biological and
psychological problems in the individual, which seriously affects the family nucleus, as
well as the patient's relations with the social environment.8. Its treatment is
multidisciplinary, due to the complexity of the maxillofacial deformity.9For the treatment
of FLP, pre-surgical and surgical procedures are performed; and it is important to
mention that there is a growing demand for surgical care to repair orofacial cleft
defects.10.
Therefore, it is essential for professionals to have basic knowledge on the subject, since
there is a high prevalence of cleft lip and palate in South America. Therefore, the aim of
the manuscript is to provide the professional with a broad overview of this
malformation, its etiology, classification, complications, diagnosis and treatment.
MATERIALS AND METHODS
A bibliographic, documentary study was carried out by searching for original scientific
articles in meta-search engines such as: PubMed, Lilacs, SciELO and Google Scholar. For
the research, the following DeCS in Spanish were used as search strategy: "cleft lip and
palate", "cleft lip", "cleft palate", "orofacial cleft", "cleft lip", "cleft palate", "congenital
anomalies", "cleft lip", and MeSH in English "Cleft lip", "Cleft lip and palate", "Cleft palate",
"Congenital Abnormalities"; together with the Boolean operators AND and OR.
A total of 545 possible articles were identified, by keyword search, the search was
limited to manuscripts published between 2012 to 2022, in English, Spanish and
Portuguese, 133 articles were identified for reading titles and abstracts, finally 69 articles
were selected for full text reading, open access and 23 articles were excluded among
duplicates, non-relevant articles, theses, monographs, letters to the editor, clinical cases.
After critical reading, 46 articles with relevance to the development of the topic were
selected.
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In addition, it is important to mention that for the development of this article it was
necessary to consider information obtained from official web pages of governmental and
world institutions that deal with the subject of study.
RESULTS
3.1 Development of the lip and palate
The development of the face is established between the 4th and 10th week after
conception.
11
From the fifth week of gestation, when the embryo is 3 mm long, the ectoderm
near the neural plate folds in on itself to form the neural tube, then the special cells of the neural
crest differentiate to form a special ectomesenchyme, then the ectomesenchyme migrates over
and around the head and participates in the formation of the 5 facial prominences that will
surround the stomodeum or primitive oral cavity.
12
. These prominences that will form the face
are: a frontonasal (central) prominence and paired maxillary and mandibular prominences.
13
.
Later, within the fifth week, the nasal placodes will develop and as these widen until the sixth
week, the center of the placode invaginates, thus dividing the frontonasal prominence into the
medial and lateral nasal process.
14
. These processes will continue to grow until the seventh week
and then fuse to form the intermaxillary process; this will eventually give rise to the philtrum
(forms the middle part of the upper lip), the premaxillary component of the maxilla (originating
the upper incisors) and the primary palate; subsequently the lateral nasal process will give rise
to the alar base and nasal wings.
13,15
.
At this time, the palatal processes also extend medially from the paired maxillary prominences,
hence the fusion of these palatal processes will give rise to the secondary palate as early as the
9th embryonic week.
15
however, the upper lip and primary palate must complete their formation
before secondary pathogenesis begins.
13
.
The formation of the palate involves the growth of the palatine processes, their elevation, their
fusion and the elimination of the epithelial raphe at the fusion site. The lateral palatine processes,
which are the precursors of the secondary palate, develop from the maxillary processes during
the sixth week and at first these will grow medially and downward; on each side of the
tongue
14,16
. As the mandible grows downward and forward, the position of the tongue will
descend and the palatine processes will have to rotate to a position horizontal to the tongue
and then undergo intramembranous ossification to form the palatine process of the maxilla and
the palatine bone.
11
.
After elevation, the palatine processes begin their fusion rapidly behind the incisive foramen and
extend posteriorly to close the palate like a "zipper" and terminate at the uvula.
13
.
It is important to mention that any error during fusion of these anatomical structures during the
first trimester of pregnancy will result in a cleft lip or palate, morphological errors of formation
leading to cleft palate include inadequate growth of the palatal processes, failure of elevation and
fusion of the process, and secondary degradation after fusion.
17
.
On the other hand, cleft lip occurs due to the lack of fusion of the frontonasal and maxillary
processes, which results in a cleft of variable extension through the lip, alveolus and nasal floor.
It should be noted that the common term for this condition is "cleft lip", however, this term has
fallen into disuse due to its degrading connotation of inferiority, since it is related to the term
hare, for this reason the most appropriate terms for the defect are cleft lip or cleft lip.
18
3.2 Etiology
The etiology of cleft lip and palate is multifactorial and can be affected by both genetic and
environmental factors.
19
. The likelihood of recurrence of cleft lip or cleft palate in a family is high
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e-ISSN: 2576-0971
and depends on the number of family members with one or more abnormalities, and the timing
and magnitude of exposure to environmental risk factors.
20
.
Several mutations and genetic diseases are the cause of facial defects, for this reason, it is
important to mention that orofacial clefts can also present with different syndromes
21
such as
Pierre Robin syndrome, Sticklers syndrome, Treacher Collins syndrome, Velocardiofacial
syndrome, Patau syndrome, Edwards syndrome, Down syndrome, Van Der Woude syndrome,
hemifacial microsomia, ectodermal dysplasia, among others.
21,22
.
On the other hand, environmental factors such as tobacco, alcohol, drugs, deficiency of folic
acid, zinc, vitamins and other microelements have a great effect on pregnancy during the first
trimester of gestation.
21
. Some medications related to clefts are retinoids, steroids and
anticonvulsants, such as phenobarbital and phenytoin, some anti-inflammatory drugs,
antineoplastic drugs.
13
. maternal diseases such as: threatened miscarriage, bronchial asthma,
diabetes Mellitus
23
diabetes mellitus
24
Exposure to chemicals, solvents and radiation may increase
the risk of having a child with FLAP. Other factors related to the increase of orofacial clefts are
low socioeconomic status and level of education.
25
.
3.3 Classification
Orofacial clefts involve several structures such as: the soft palate, the hard palate, the alveolar
process and the lip; on the other hand, it must be taken into account that this congenital
malformation can manifest unilaterally, bilaterally, combined or isolated.
9
. A proper classification
is essential because the different types of oral clefts can be variably associated with additional
anomalies and chromosomal disorders; thus, over the years, several different classification
systems have been presented, based on the morphological, anatomical or pathological
characteristics of the orofacial clefts.
11
. Thus, we have several classifications used in the past,
such as the classification of Davis and Ritchie 1992
26
, Veau Victor 1931
9
, Kernahan and Stark
1958 and 1971
17
Otto Kriens 1989
12
among others.
There is also a current classification presented by the WHO and it is the Classification of
International Classification of Diseases and Related Health Problems, 10th edition (ICD-10) ,
which is presented below.
Lip, mouth and palate malformations .
27
.
(Q35) Cleft palate.
• (Q35.0) Cleft hard palate, bilateral.
• (Q35.1) Cleft hard palate, unilateral.
• (Q35.2) Cleft soft palate, bilateral.
• (Q35.3) Cleft soft palate, unilateral.
• (Q35.4) Cleft hard palate and soft palate, bilateral.
• (Q35.5) Cleft hard palate and soft palate, unilateral.
• (Q35.6) Cleft palate, midline.
• (Q35.7) Fissure of the uvula.
• (Q35.8) Bilateral cleft palate, not otherwise specified.
• (Q35.9) Unilateral cleft palate, not otherwise specified.
(Q36) Cleft lip.
• (Q36.0) Cleft lip, bilateral.
• (Q36.1) Cleft lip, midline.
• (Q36.9) Cleft lip, unilateral.
(Q37) Cleft palate with cleft lip