ORIGINAL ARTICLE
Facial Clefts and Facial Dysplasia: Revisiting
the Classification
Riccardo F. Mazzola, MD* and Isabella C. Mazzola, MDÞ
Abstract: Most craniofacial malformations are identified by their
appearance. The majority of the classification systems are mainly
clinical or anatomical, not related to the different levels of devel-
opment of the malformation, and underlying pathology is usually
not taken into consideration. In 1976, Tessier first emphasized
the relationship between soft tissues and the underlying bone stating
that ‘‘a fissure of the soft tissue corresponds, as a general rule, with a
cleft of the bony structure’’. He introduced a cleft numbering sys-
tem around the orbit from 0 to 14 depending on its relationship to
the zero line (ie, the vertical midline cleft of the face). The classi-
fication, easy to understand, became widely accepted because the
recording of the malformations was simple and communication
between observers facilitated. It represented a great breakthrough in
identifying craniofacial malformations, named clefts by him. In the
present paper, the embryological-based classification of craniofa-
cial malformations, proposed in 1983 and in 1990 by us, has been
revisited. Its aim was to clarify some unanswered questions regarding
apparently atypical or bizarre anomalies and to establish as much
as possible the moment when this event occurred. In our opinion,
this classification system may well integrate the one proposed by
Tessier and tries at the same time to find a correlation between
clinical observation and morphogenesis.
Terminology is important. The overused term cleft should be
reserved to true clefts only, developed from disturbances in the
union of the embryonic facial processes, between the lateronasal
and maxillary process (or oroYnasoYocular cleft); between the
medionasal and maxillary process (or cleft of the lip); between the
maxillary processes (or cleft of the palate); and between the max-
illary and mandibular process (or macrostomia).
For the other types of defects, derived from alteration of bone
production centers, the word dysplasia should be used instead. Facial
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From the *Departments of Clinical Sciences and Community Health, Fondazione
Ospedale Maggiore Policlinico IRCCS, Milan, Italy.
Received May 31, 2013.
Accepted for publication June 15, 2013.
Address correspondence and reprint requests to Riccardo F. Mazzola, MD,
Department of Specialistic Surgical Sciences, Fondazione Ospedale
Maggiore Policlinico IRCCS, Via Marchiondi 7, 20122 Milan, Italy;
E-mail: riccardo.mazzola@fastwebnet.it
The authors report no conflicts of interest.
Copyright * 2014 by Mutaz B. Habal, MD
ISSN: 1049-2275
DOI: 10.1097/SCS.0b013e3182a2ea94
26 The Journal of Craniofacial Surgery
Copyright © 2014 Mutaz B. Habal, MD. Unauthorized reproduction of this article is prohibited.
dysplasias have been ranged in a helix form and named after the
site of the developmental arrest. Thus, an internasal, nasal, naso-
maxillary, maxillary and malar dysplasia, depending on the involved
area, have been identified.
The classification may provide a useful guide in better under-
standing the morphogenesis of rare craniofacial malformations.
Key Words: Craniofacial malformations, craniofacial
malformations classification, craniofacial development
(J Craniofac Surg 2014;25: 26Y34)
A new classification is needed from time to
time as scientific evolution proceeds. It is usually
based on new theories, but it remains always
provisional. Johann Wolfgang von Goethe
(1749Y1832) Schriften zur Naturwissenschaft.
Stuttgart: Cotta, 1820.
U sually, the term cleft or clefting refers to a failure of fusion of
2 adjacent embryonic facial processes. The processes approach
each other, the epithelial contact is established, and the remaining
ectodermal groove, which was formed between them, obliterated as
soon as fusion takes place. Union occurs because the epithelial plate
of Hochstetter, covering the facial processes, degenerates allowing
the mesoderm of one process to merge into the other. If for any
reason the epithelium between the borders of the facial processes
does not regress spontaneously, in other terms no degeneration oc-
curs, fusion of facial processes will not take place. Hence, cell de-
generation has a key role in facial development.1
A distinction should be made between primary and sec-
ondary clefts. Primary or true clefts arise at an early stage of facial
development, before 17 mm C-RL, and in 4 specific areas: between
the lateronasal and maxillary process, the so-called oroYnasoYocular
cleft (Fig. 1); between the medionasal and maxillary process, usually
named cleft of the lip (Fig. 2); between the maxillary processes,
better known as cleft of the palate (Fig. 3); and between the maxillary
and mandibular process, known as macrostomia (Fig. 4).1,2 Clef-
ting of the oral commissure, or macrostomia, is essentially a soft-
tissue defect affecting skin, mucosa, and orbicularis muscle. In the
majority of cases, it is unilateral and varies from minor division of
the buccal angle to a wide cleft reaching the tragus.
& Volume 25, Number 1, January 2014
The Journal of Craniofacial Surgery & Volume 25, Number 1, January 2014
FIGURE 1. Primary or true cleft due to lack of fusion between the lateronasal
and maxillary process. It is usually named oroYnasoYocular cleft
(or nasomaxillary dysplasia).
Secondary or pseudo-clefts originate at a later stage of de-
velopment, when facial processes have fused and mesenchymal
differentiation into bone, cartilage, and facial muscle has begun. The
most important event during the late development of the face is the
degree of outgrowth of the bone production centers. These centers
approach each other and at the site of contact sutures develop. Al-
tered differentiation of bone production center is the causative factor
for abnormal ossification. If the development arrests in the middle,
while growth continues normal in the adjacent tissues, a so-called
hourglass deformity may take place (Fig. 5).3 This zone behaves
like a scar and prevents the surrounding tissues from expanding
normally. The vertical distance between the upper lip and the or-
bital rim shortens. According to this theory, a series of V-shaped
anomalies, pseudoclefts, colobomas, and peaks will form affecting
the nose, the maxilla, the lips, the eyelids, and the hairline. They
appear predominantly orientated in a craniocaudal direction, and
FIGURE 2. Primary or true cleft developed between the medionasal and
maxillary process, the so-called cleft of the lip.
* 2014 Mutaz B. Habal, MD
Copyright © 2014 Mutaz B. Habal, MD. Unauthorized reproduction of this article is prohibited.
Facial Clefts Classification
FIGURE 3. Primary or true cleft due to failure of fusion between the maxillary
processes, the so-called cleft of the palate.
their phenotypic aspect varies depending on the area of skeletal
involvement and the nature of adjacent tissues.
Bone production has a key role in craniofacial morphogene-
sis. Normal facial growth is based on a synergic, harmonious de-
velopment of the different ossification centers. However, this process
may be interrupted giving rise to a break in skeletal, muscular, and
cutaneous continuity. Once formed, the bone is composed of the
minimum amount of osseous tissue necessary to withstand the func-
tional stress applied by the neuromuscular activity. Change in muscle-
bone interaction is followed by remodeling in structure and shape of
the bone itself (Wolff law).4,5
Although the developmental arrest responsible for secondary
clefts occurs after fusion of the facial processes has taken place, the
relationship between the different skeletal parts has not yet been
achieved and the final position is still subject to changes induced by
constant interaction between unrestricted growth on one hand and
failure or absence of differentiation on the other. The effect of a
differentiation defect on skeletal development is best demonstrated
FIGURE 4. Primary or true cleft resulting from lack of fusion between the
maxillary and mandibular process, usually known as macrostomia.
27
Mazzola and Mazzola The Journal of Craniofacial Surgery
FIGURE 5. The formation of the so-called hourglass deformity. The
development arrests in the middle, where the bone center is located, while
it continues normal in the adjacent tissues. This zone behaves like a scar
and prevents the surrounding tissues from expanding normally.
in median and paramedian clefts of the face. In median clefts the
normal converging movement of the facial halves toward the mid-
line is arrested by unknown factors. As a result, failure of differ-
entiation involving the internasal area prevents not only narrowing
but also the forward growth of the nasal septum. In paramedian
clefts due to nasomaxillary, maxillary, and nasal dysplasia, the sit-
uation is different. The forward growth of the nasal structures is
normally controlled by the maxilla, whereas the position of the naso-
maxillary complex by the malar bone. If a skeletal or muscular de-
velopmental arrest takes place in these areas, a separation between
the central and lateral parts of the skeleton will appear, responsi-
ble for the cranial drift of the nose, frequently observed in these
cases. Deficient skeletal development will affect topography as well
as the ossification centers.
FIGURE 6. First attempt of classifying craniofacial malformations by orientating
clefts along constant axes of the face, according to Sömmering (1791).6
28
Copyright © 2014 Mutaz B. Habal, MD. Unauthorized reproduction of this article is prohibited.
& Volume 25, Number 1, January 2014
Starting from Sömmering (1791),6 who, as far as we know,
first noticed that the orientation of clefts follows constant axes
along the face, ie, through the midline of the nose, nostrils, eyebrows,
and maxilla (Fig. 6), numerous classifications of craniofacial mal-
formations and clefts have appeared over the years.7Y18
In 1976, Tessier proposed a classification of craniofacial mal-
formations emphasizing for the first time the relationship between
soft tissues and the underlying bone stating that ‘‘a fissure of the
soft tissue corresponds, as a general rule, with a cleft of the bony
structure. The converse is also possible’’.14 However, the extent of
involvement of the soft and bony tissue is variable. He also pro-
posed the use of the term cleft as a common denominator in all
craniofacial anomalies and considered the orbit a landmark transi-
tion between the overlying cranium and the underlying facial skel-
eton. In order to make the nomenclature simple and workable, he
devised a system in which the site of each malformation is assigned
a number from 0 to 14, along constant axes or lines around the
eyebrows, the maxilla, the nose, and the lip, where 0 passes through
the vertical midline of the face. The system became widely accep-
ted in a very short time because the recording of the malformations
was made easier and communication between observers facilitated.
In 1983, we have developed an embryological-based classi-
fication derived from the observation of a large number of pa-
tients affected by craniofacial malformations.2 The classification
was further improved and expanded in 1990.3 In an attempt to
furnish an answer, whenever possible, to the different anomalies
sometimes bizarre, sometimes even out of any logical explanation,
we included an embryologist (V-KC) among the authors. The idea
was to range malformations following an order, which could es-
tablish a relationship between the topographic location and the
chronology of morphogenesis, in other terms the site where an
anomaly appears and the stage of the development at which the
alteration may originate. Keeping the outgrowth of bone centers
concept in mind as the key element in craniofacial morphogenesis,
the reader may understand apparently unexplainable findings of
bony and overlying soft-tissue defects.
FIGURE 7. The craniofacial ossification centers ranged in the form of a helix.
An altered differentiation of a bone production center gives rise to a
malformation called dysplasia. The following dysplasias have been identified:
sphenofrontal (1), frontal (2), frontonasal (3), internasal (4), nasal (5),
nasomaxillary (6), maxillary (7), zygomatic (8), temporozygomatic (9),
temporoauricular (10), temporoYauriculoYmandibular (11), mandibular (12),
and intermandibular (13).
* 2014 Mutaz B. Habal, MD
The Journal of Craniofacial Surgery & Volume 25, Number 1, January 2014 Facial Clefts Classification

FIGURE 8. Internasal dysplasia, minor degree. Bifidity of the nasal tip, median cleft of the lip (left) and duplication of the labial frenulum (right).

The present paper aims at revisiting the embryological-based In less severe cases, the anomaly is characterized by midline
classification of craniofacial malformations, discussing the termi- fistula, bifidity of the nasal tip, dorsum, and duplication of the
nology and trying to establish a relationship between the Tessier caudal end of the cartilaginous septum (Fig. 8, left). Occasionally,
classification and ours. a median cleft of the lip (Fig. 8, left), a midline notching of the
cupid bow, or a duplication of the upper frenulum (Fig. 8, right)
may appear.13,20,21 In major cases, the nasal halves are completely
divided and orbital hypertelorism is always present (Fig. 9).11,13,18Y20
PATIENTS AND METHODS The premaxilla can be hypoplastic and bifid. The maxilla may show
The present retrospective study is based on the observation a keel-shaped appearance with the incisors separated and rotated
and review of photographs, medical charts, and data of 455 pa- upwards (Fig. 8, right). From time to time, a median cleft of the
tients with craniofacial malformations seen at the Department of palate is also found and this may extend to the cribiform plate as
Plastic Surgery of Milan University Hospital, headed by Prof. an inverted V.20,21 The distance between the palate and the cranial
Sanvenero Rosselli. Cases were ranged and classified according to base is short and the remaining internasal space is occupied by a
the embryological-based classification developed by us in 1990.3 cartilaginous mass, partially duplicated. The wider the cleft is, the
The architectural design of the craniofacial skeleton can be
associated with a helix, symbol of life in some cultures and here
compared with the letter ‘‘S’’ (Fig. 7). The ossification centers,
numbered from 1 to 13, are scattered along the helix, which starts
on the lateral aspect of the craniofacial skeleton at the superior border
of the external orbital pillar and ends on the midline of the man-
dible.1Y3 In the upper third of the cranium, the ossification centers,
numbered from 1 to 3, provide the formation of the anterior wall of
the brain; in the middle third, numbered from 4 to 11, they consti-
tute the nose, the orbital cavity, and the auditory meatus; whereas
in the lower third, numbered from 12 to 13, they give rise to the
lateral and anterior wall of the oral cavity. If an arrest in their de-
velopment occurs, an anomaly will result. The spectrum of cranio-
facial malformations is dominated by the disorders located in the
middle section of the helix, named clefts by the majority of the
authors. However, the term cleft or clefting has been overused to
identify and classify these anomalies. In our opinion, it should be
confined to true clefts only, related to failure of fusion of the em-
bryonic facial processes (see above). For other anomalies, the term
dysplasia, which includes the concept of abnormal development or
growth, should be used instead. Thus, we distinguish an internasal,
nasal, nasomaxillary, maxillary, and malar dysplasia depending on
the involved area.

CLASSIFICATION OF FACIAL DYSPLASIAS

Internasal Dysplasia
Known as Tessier type 0, internasal dysplasia refers to a de-
velopmental arrest before the union between the 2 nasal halves has
completed. Depending on the moment the insult occurs, a wide FIGURE 9. Internasal dysplasia, major degree. Complete separation of the
spectrum of abnormalities can be observed. nasal halves, median cleft lip, and orbital hypertelorism.

* 2014 Mutaz B. Habal, MD 29

Copyright © 2014 Mutaz B. Habal, MD. Unauthorized reproduction of this article is prohibited.
Mazzola and Mazzola The Journal of Craniofacial Surgery & Volume 25, Number 1, January 2014

FIGURE 10. Nasal dysplasia. Developmental arrest of the nasal ossification center and defective differentiation of the mesenchyme into alar cartilage, giving
rise to a coloboma of the ala in less severe cases (left) or a complete absence of the entire half of the nose, associated with a snout-like appendage, called
proboscis lateralis, in more severe forms (right).

greater is the interorbital distance, the shorter is the nose, and the
more arched is the maxillary vault.
Nasal Dysplasia
Known as the Tessier type 1 cleft, nasal dysplasia includes
malformations due to lack of union between the lateral and medial
nasal process, resulting from alteration of the development of the
nasal ossification center or defective differentiation of the mesen-
chyme into alar cartilage.1,13 In less severe cases, the anomaly is
characterized by a notch or coloboma of the ala (Fig. 10, left). The
nasal septum and cavity are usually not involved. In more severe
situations, the entire half of the nose, nasal bone, and maxillary sinus
are missing. A tubular fleshy snout-like appendage, hanging free
from the inner canthus, the so-called proboscis lateralis, may be
associated (Fig. 10, right). A combination of nasal and internasal
dysplasia may be observed. In these cases, an asymmetric orbital
hypertelorism is present (Fig. 11).
Nasomaxillary Dysplasia (or Naso-ocular Cleft)
The malformation corresponds to the Morian type I or the
Tessier type 3 cleft. Nasomaxillary dysplasia refers to cases in-
volving developmental arrest before fusion between the lateronasal
and maxillary process takes place. In other terms, these malforma-
tions fall into the group of true or primary clefts, thus the term cleft
can correctly be applied.22 An incomplete or naso-ocular cleft oc-
curs when the alteration in fusion mechanism regards the lateronasal
and maxillary processes. In these patients, the lip develops normally.
On the contrary, a complete cleft (or oroYnasoYocular cleft) arises
when fusion between the medionasal and maxillary processes is
altered. A cleft between the medial and lateral incisors, if present,
can be explained by one of the following dental anomalies, so
common in patients with cleft lip, such as agenesis or supernu-
merary elements.
According to the moment the insult occurred, a wide variety
of abnormalities and variations can be observed. The appearance of

FIGURE 11. Combination of nasal and internasal dysplasia. Orbital hypertelorism, symmetric (left), or asymmetric (right) may occur.

30 * 2014 Mutaz B. Habal, MD

Copyright © 2014 Mutaz B. Habal, MD. Unauthorized reproduction of this article is prohibited.
The Journal of Craniofacial Surgery & Volume 25, Number 1, January 2014 Facial Clefts Classification

FIGURE 12. Nasomaxillary dysplasia. These anomalies are true clefts, as they result from lack of fusion between the lateronasal and maxillary process
(naso-ocular cleft) or between the medionasal and maxillary process (oroYnasoYocular cleft). In the first case, the lip is not affected (left), whereas
in the second a typical cleft of the lip is present (right).

the incomplete as well as the complete clefts depends upon the
period in which development was inhibited. If the arrest took place
before the processes have merged (17 mm C-RL), the lacrimal duct
fails to form and a primary defect will ensue. If the alteration oc-
curred after closure of the ectoderm of the face has been completed
and the duct has been formed, a secondary or differentiation defect
will result.1,23
In incomplete nasomaxillary dysplasia (or naso-ocular cleft),
the defect goes from the alar base to the medial canthus, which is
usually downwards dislocated. A lacrimal fistula may appear along
the tract of the junction between the 2 processes. The upper lip is
generally not affected. The entire half of the nose may be absent
(Fig. 12, left). In complete nasomaxillary dysplasia (or oroYnasoYocular
cleft), the alteration goes from the upper lip, like a cleft of the lip, but
lateral to the cupid bow and the philtrum, passes through the nasal
aperture, skirts, or may even involve the foot of the distorted alar
base, and continues towards the medial canthus, which is always
displaced caudally (Fig. 12, right). In most severe cases, the cleft
enters the orbital cavity in its lower middle third. Microphthalmia
is frequently associated (Fig. 1). There is a retrusion of the ipsi-
lateral maxilla medial to the infraorbital foramen, and the frontal
process is either hypoplastic or even absent. Caudal displacement

FIGURE 13. Medial maxillary dysplasia. The unilateral cleft goes from the orbital rim, medial to the infraorbital foramen, to the alveolar bone. Unilateral (left) and
bilateral (right) case.

* 2014 Mutaz B. Habal, MD 31

Copyright © 2014 Mutaz B. Habal, MD. Unauthorized reproduction of this article is prohibited.
Mazzola and Mazzola The Journal of Craniofacial Surgery
FIGURE 14. Lateral maxillary dysplasia. Mild case with external deformities less
pronounced. The defect begins in the right lip, close to the oral commissure,
and arches upward giving rise to a coloboma in the outer part of the lower
eyelid. The skeletal defect appears lateral to the infraorbital foramen.
of the orbit due to its hypodevelopment may be observed. An
asymmetric orbital hypertelorism is often present. If the malforma-
tion shows a cleft of the upper lip, the division passes through
the alveolar bone between the lateral incisor and the canine. The
lateral incisor is usually missing.22 Cleft of the palate coexists in
the majority of cases. The nasolacrimal apparatus is either hypo-
plastic or absent.
FIGURE 15. Malar dysplasia. Patient with the typical features of a complete Berry-Treacher Collins syndrome. Front view (left) and lateral view (right).
32
Copyright © 2014 Mutaz B. Habal, MD. Unauthorized reproduction of this article is prohibited.
& Volume 25, Number 1, January 2014
Medial Maxillary Dysplasia
The malformation is known as the Morian type II or the
Tessier type 4 cleft. Medial maxillary dysplasia is caused by a de-
velopmental arrest of the ossification centers located in the medial
third of the maxillary bone. The resulting secondary cleft extends
from the lip, midway between the philtrum and the oral commissure,
proceeding laterally from the intact, but superiorly dislocated, nasal
pyramid and ending at the lower lid level. The maxilla, medial to
the infraorbital foramen, is always hypoplastic, causing a severe
retrusion of the rim of the piriform aperture and a funnel-shaped
concavity of the medial part of the orbital rim and floor (Fig. 13, left).
A cleft in the alveolar bone between the lateral incisor and the
canine is noticeable, more rarely between the 2 incisors, as repor-
ted by Morian.9 In bilateral cases, the nose appears hypodeveloped
(Fig. 13, right). However, the case described by Morian presented
a supernumerary incisor lateral to the alveolar cleft. Cleft of the
palate, whether complete or partial, is sometimes associated. On
the contrary, malformations of the nasolacrimal duct are present in
the majority of patients. Morphogenesis of this dysplasia can be
explained on the basis of the embryological development.23 The fact
that the nasal pyramid appears slightly hypoplastic only proves that
fusion between facial processes took place normally, thus the de-
velopmental arrest has occurred after the 17 mm C-RL stage, when
the ectodermal grooves between facial processes have obliterated.1
The resulting secondary or differentiation defect may produce the
typical hourglass deformity (see above), with the developmental
arrest occurring in the middle. The vertical distance between the
upper lip and the orbital rim is shortened, and a coloboma on both
ends is noticeable (Fig. 5).
Lateral Maxillary Dysplasia
The malformation is known as the Morian type III or the
Tessier type 5 cleft. Lateral maxillary dysplasia is due to a devel-
opmental arrest in the lateroposterior part of the maxillary ossifi-
cation centers, giving origin to a secondary cleft. In this case, the
cleft begins in the lip, close to the oral commissure, and arches
upward giving rise to a coloboma in the outer part of the lower
* 2014 Mutaz B. Habal, MD
The Journal of Craniofacial Surgery & Volume 25, Number 1, January 2014
eyelid (Fig. 14). The skeletal defect appears lateral to the infraor-
bital foramen, whereas in the alveolar bone it appears between the
canine and the first molar. The cleft extends into the infraorbital
fissure and the alveolar process is not involved. Unilateral or
bilateral anomalies have been reported, but they are rare and often
poorly documented. However, the malformation may appear not so
rare if one considers the striking resemblance with malar dysplasia
(Treacher Collins syndrome), where the defect is located in the malar
bone. In the case described by Chavane, a malar dysplasia was ob-
served on one side, whereas a lateral maxillary dysplasia appeared on
the contralateral side.24
Malar Dysplasia
Known as the Tessier type 6, 7, and 8 cleft or Berry, Treacher
Collins, and Franceschetti syndrome,25Y27 malar dysplasia is an
autosomal dominant congenital disorder, usually bilateral. Pheno-
typic hallmarks include deficiency or absence of malar bone, flat-
tening of the cheeks, antimongoloid slant of the palpebral fissures,
displacement of the lateral canthi in a caudal direction, and notching
or coloboma of the lateral third of the lower eyelids. The coloboma
occasionally continues as a groove that may extend toward the
angle of the mouth or more laterally. Dystopic cilia along the edges
of this groove, absence or deficiency of the medial two thirds of
the eyelashes of the lower eyelid, and atresia of the lacrimal duct
may also be present. The hallmark of exophthalmia may appear
when the eyelid coloboma is severe. In contrast, an enophthalmic
appearance may be produced by protrusion of the nose and the
maxilla and the absence of the malar contour. The forward projection
of the maxilla is caused by the skeletal disruption. The posterior
maxillary height is decreased, whereas the anterior height is in-
creased, resulting in a steep anteroinferior cant. Retrusion of the
malar region, flattening of the nasofrontal angle, hypodevelopment
of the mandibular ramus with chin hypoplasia, and long neck give
the patient the typical convex birdlike profile (Fig. 15). The orbital
configuration is altered by the defect of the inferolateral angle and
the caudal displacement of the lateral canthus. The orbits are gen-
erally egg-shaped with a superior base rotated medially and an in-
ferior apex rotated laterally. Their contents herniate into the defect
as the result of the missing malar bone. The infraorbital nerve
passes directly from the cavity to the soft tissues, thus care should
be taken in dissecting this area. In most severe cases, a single
temporalis and masseter muscle, fused together, is observable. The
sideburns are usually anteriorly displaced toward the cheeks. Cleft
palate or congenital submucous palatal cleft and choanal atresia
are sometimes associated. Bilateral external ear malformation is
almost always present ranging from microtia, with the ear remnants
sometimes caudally and ventrally dislocated (synotia) and atresia of
the external acoustic meatus, to normal auricular configuration but
with a hypodeveloped ossicular chain. The result is a severe bilateral
conductive hearing loss. Preauricular tags and sinuses with mac-
rostomia are sometimes associated. Due to the retruded mandible,
respiration is highly compromised and sleep apnea is occasionally
observed.
DISCUSSION
Classifications of craniofacial anomalies are mainly based
on their localization. Some authors divided the face into different
areas,10,11,13 others made a distinction between the central and the
lateral aspect of the face,9,12,18 and others reported a series of ano-
malies with their simple description.6Y8
In 1976, Tessier introduced a classification of craniofacial
malformations emphasizing for the first time the relationship be-
tween soft tissues and the underlying bone. He proposed a cleft
numbering system around the orbit from 0 to 14 depending on its
* 2014 Mutaz B. Habal, MD
Copyright © 2014 Mutaz B. Habal, MD. Unauthorized reproduction of this article is prohibited.
Facial Clefts Classification
relationship to the zero line (ie, the vertical midline cleft of the
face). The classification, easy to understand, became widely ac-
cepted because the recording of the malformations was simple
and communication between observers facilitated.14 It represented a
great breakthrough for identification of craniofacial malforma-
tions, named clefts by him, as it offers the reader a clear correlation
between clinical appearance with surgical anatomy.15Y18 However,
the developmental causative factor which lies behind each cleft
was not taken into consideration.
In an attempt to furnish an answer, whenever possible, to the
different anomalies that are sometimes bizarre and sometimes even
out of any logical explanation, we published an embryological-based
classification. In doing so, we included an embryologist (V-KC)
among the authors.2,3
The 2 classifications may well integrate each other. Tessier
ranged craniofacial clefts around the orbit, point of transition be-
tween the overlying cranium, and underlying maxilla following
specific constant lines or axes. No embryological explanation was
supplied.
On the contrary, in our classification the distribution of cra-
niofacial malformations is ranged in a helix form. The helix, symbol
of life in some cultures, is compared here with the letter ‘‘S’’. The
origin of the ‘‘S’’ starts on the lateral aspect of the craniofacial
skeleton at the superior border of the external orbital pillar and
ends on the midline of the mandible. Along this helix are scattered
the ossification centers, whose development gives origin to the
facial bones (Fig. 7). If, for any reason, this development does not
take place or is abnormal, a malformation will ensue. Because out-
growth of bone centers occurs at a later stage of development
(after the 17 mm C-RL stage), when facial processes have already
fused and mesenchymal differentiation into bone, cartilage, and facial
muscle has begun, it is a misnomer to call these anomalies as clefts.
In our opinion, the term cleft or clefting has been overused.
It should be reserved to true clefts only resulting from alterations
of closing mechanisms occurring in the human face before the
facial processes fuse (17 mm C-RL). These early defects are lo-
cated between the lateronasal and maxillary process, the so called
oroYnasoYocular cleft (Fig. 1); between the medionasal and maxil-
lary process, usually named cleft of the lip (Fig. 2); between the
maxillary processes, better known as cleft of the palate (Fig. 3);
and between the maxillary and mandibular process, known as ma-
crostomia (Fig. 4).1,2
On the contrary, for other malformations the term dysplasia
should be used instead. Keeping the abnormal outgrowth and dif-
ferentiation of bone centers concept in mind, an internasal, nasal,
nasomaxillary, maxillary, and malar dysplasia are identified, depend-
ing on the involved area.
CONCLUSIONS
In the present paper, the embryological-based classification
of craniofacial malformations, proposed in 1983 and in 1990,2,3
has been revisited, with the aim at clarifying some unanswered
questions regarding apparently atypical or bizarre anomalies. We
believe that this classification system not only may well integrate
the one proposed by Tessier but also tries to find a correlation be-
tween clinical observation and morphogenesis.
Terminology is important. In our opinion, the overused term
cleft should be reserved to true clefts developed from disturbances
in the union of the embryonic facial processes. For the other types
of defects, derived from alteration of bone production centers, the
word dysplasia should be used. Facial dysplasias have been ranged
in a helix form and named after the site of the developmental ar-
rest. Thus, internasal, nasal, nasomaxillary, maxillary, and malar
dysplasia depending on the involved area have been identified.
33
Mazzola and Mazzola The Journal of Craniofacial Surgery
Having these concepts in mind, rare facial malformations
can be more readily understood.
ACKNOWLEDGMENTS
The authors wish to thank the Fondazione Gustavo Sanvenero
Rosselli of Milan for access to the archives of Prof. G. Sanvenero
Rosselli and for supplying the patients’ photographs for this paper.
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