118 Congenital Anomalies 2008; 48, 118–125
REVIEW ARTICLE
Congenital deformities and developmental abnormalities of the
mandibular condyle in the temporomandibular joint
Keiseki Kaneyama1, Natsuki Segami1, and Toshihisa Hatta2
Departments of 1Oral and Maxillofacial Surgery, and 2Molecular and Cell Structural Science, School of Medicine, Kanazawa Medical
University, Ishikawa, Japan
ABSTRACT The temporomandibular joint (TMJ) consists
of the mandibular condyle and the articular eminence of the
temporal bone. The morphological development of the TMJ
during prenatal life lags behind other joints in terms of both the
timing of its appearance and its progress. At birth, the joint is still
largely underdeveloped. There are many causes of the various
growth disturbances and abnormalities of the mandibular
condyle and related structures. Growth disturbances in the
development of the mandibular condyle may occur in utero late
in the first trimester and may result in disorders such as aplasia
or hypoplasia of the mandibular condyle. Meanwhile, hyperpla-
sia of the mandibular condyle is not visible at birth and seems
to be gradually acquired during growth. In the present review
article, the congenital abnormalities of the mandibular condyle
are classified morphologically into three major groups and two
subgroups from a clinical standpoint: (1) hypoplasia or aplasia of
the mandibular condyle, including (i) primary condylar aplasia
and hypoplasia, (ii) secondary condylar hypoplasia; (2) hyper-
plasia; and (3) bifidity. In addition, the molecular-based etiology
of anomalies of the mandibular condyle is also discussed.
Key Words: first and second branchial arch syndrome, Goldenhar
syndrome, Hallermann-Streiff syndrome, Hurler’s syndromes,
Treacher Collins syndrome
INTRODUCTION
The temporomandibular joint (TMJ) is unique in the body and
consists of the mandibular condyle and the articular eminence of the
temporal bone (Cleall 1980; Buchbinder & Kaplan 1991). A fibrous
disc is situated between the mandibular condyle and the articular
eminence, dividing the joint into two compartments. TMJ is con-
sidered a ginglymus diarthrodial joint with both rotational and
translatory movement. The rigid mandibular connection between
the two compartments prevents unilateral motion (Cleall 1980).
Unlike other synovial joints, TMJ is also bilaterally diarthrodial (i.e.
the left and right sides must function together).
There are many causes of the various unilateral and bilateral
growth disturbances of the mandibular condyle and its related
structures (Sarnat 1969; Thoma 1969). Any alteration in the
condyle’s size or shape affects the TMJ. A more general distur-
bance, deriving from changes in the mandibular condyle, results
in facial abnormalities. Such a disturbance in the development of
the mandibular condyle and fossa may occur in utero late in the
Correspondence: Keiseki Kaneyama, DDS, PhD, 1-1 Daigaku, Uchinada-
machi, Kahoku-gun, Ishikawa Prefecture, 920-0293 Japan. Email:
k-k@kanazawa-med.ac.jp
Received January 28, 2008; revised and accepted May 20, 2008.
© 2008 The Authors
Journal compilation © 2008 Japanese Teratology Society
doi:10.1111/j.1741-4520.2008.00191.
first trimester. This may result in aplasia or hypoplasia of the
mandibular condyle and its associated soft tissues (Thoma 1969;
Buchbinder & Kaplan 1991). Meanwhile, a disturbance of the
mandibular condyle during the normal growth period may result
in condylar hyperplasia, which is caused by abnormal local
growth stimulation (Buchbinder & Kaplan 1991; Tank et al.
1998). These complexities, noted in the etiology and characteris-
tics of abnormalities such as hypo- and/or hyperplasia of the
mandibular condyle, have resulted in a variety of classifications
(Bruce & Hayward 1968; Lauritzen et al. 1985; Obwegeser &
Makek 1986; Monahan et al. 2001; Poon et al. 2003; Singh &
Bartlett 2005; Nitzan et al. 2008). Obwegeser and Makek (1986)
classified the asymmetry associated with mandibular condylar
hyperplasia into three categories according to mandibular asym-
metry. Mandibular hypoplasia is also a frequently encountered
craniofacial difference and, according to developmental circum-
stances, can be classified into three groups: congenital; develop-
mental; and acquired (Singh & Bartlett 2005). Some reports have
been published regarding patients with syndromic congenital
mandibular hypoplasia (Lauritzen et al. 1985; Monahan et al.
2001; Poon et al. 2003; Singh & Bartlett 2005). However, there
have been no investigations of ‘non-syndromic’ patients. Further,
no reports have discussed hypoplasia, aplasia, and hyperplasia of
the mandibular condyle together. It might be difficult to discuss
them together on the basis of certain criteria. Therefore, in the
present article, we attempted to classify congenital deformities
and developmental abnormalities of the mandibular condyle into
three major groups and two subgroups from a morphological and
clinical standpoint: (1) hypoplasia or aplasia, including (i) primary
condylar aplasia and hypoplasia; (ii) secondary condylar hypopla-
sia; (2) hyperplasia; and (3) bifidity (Table 1). The morphology
of the mandibular condyle was examined by radiography and
computed tomography (CT) (Bishara et al. 1994; Monahan et al.
2001). That is, panoramic and postero-anterior radiographs are
useful for surveying the shapes of the mandibular rami and
condyles on both sides because the midlines of the face and den-
tition can be recorded and evaluated. The lateral radiograph pro-
vides useful information, such as ramal height and mandibular
condyle length. CT can also provide a three-dimensional rendition
of both the soft tissue of the face and the underlying bone. This
classification involves not only ‘syndromic’ but also ‘non-
syndromic’ patients. Hypoplasia and hyperplasia of the mandibu-
lar condyle are also discussed together in this article. To the best
of our knowledge, there no such reports have been published pre-
viously, although our proposed classification appears in some text-
books. In addition, the outline, epidemiology, clinical features,
and etiology of congenital abnormalities of the mandibular
condyle in the three groups were also reviewed, following the
overview of the normal development of the TMJ.
 Congenital abnormalities of the TMJ
Table 1 Classification of the congenital deformities and develop-
mental abnormalities of the mandibular condyle in the
temporomandibular joint
Hypoplasia or aplasia of the mandibular condyle
Primary condylar aplasia and hypoplasia
Mandibulofacial dysostosis (Treacher Collins syndrome)
Hemifacial microsomia (first and second branchial arch
syndrome)
Oculoauriculovertebral syndrome (Goldenhar syndrome)
Oculomandibulodyscephaly (Hallermann-Streiff syndrome)
Hurler’s syndrome
Secondary condylar hypoplasia
Hyperplasia
Bifidity (double mandibular condyle, double-headed condyle)
DEVELOPMENT OF THE
TEMPOROMANDIBULAR JOINT
Embryology of the temporomandibular joint
In contrast to other diarthrodial joints, during prenatal life the TMJ
lags morphologically behind other synovial joints in both the timing
of its appearance and its progress, so that at birth the joint is still
largely underdeveloped (Cleall 1980; Buchbinder & Kaplan 1991).
TMJ is the last joint to start development, beginning at about the 7th
week in utero. The TMJ first appears in the 8th week of gestation,
when two separate areas of mesenchymal blastemas appear near the
eventual location of the mandibular condyle and glenoid fossa. The
mandibular condyle develops lateral and superior to Meckel’s car-
tilage (Buchbinder & Kaplan 1991; Choi et al. 2007). Bone and
cartilage are first seen in the mandibular condyle at approximately
the 10th gestational week. First to appear is the condylar blastema,
from which are derived the mandibular condyle cartilage, the apo-
neurosis of the lateral pterygoid muscle, and the disc and capsule
component composing the lower portion of the joint. Next is the
temporal blastema, which eventually forms the articular surface of
the temporal component and the structures of the upper portion of
the joint (Buchbinder & Kaplan 1991). The mandibular condyle and
temporal blastemas begin their growth at relatively distant sites,
they then move toward each other as the joint develops by the 12th
week (Buchbinder & Kaplan 1991). The disc develops as a mesen-
chymal structure, with cells migrating from the condylar head,
temporal bone, and lateral pterygoid tendon (Ogütcen-Toller &
Juniper 1993; Carranza et al. 2006). The disc is a highly cellular
mesenchymal tissue that becomes progressively fibrous during fetal
development. By 14th week of gestation, the morphogenesis of the
disc has progressed to reveal a thin intermediate zone and a general
thickening of the periphery.
Postnatal development of the temporomandibular joint
At birth, the articular surfaces of both the mandibular condyle and
temporal bones are covered with fibrous connective tissue. Later,
this tissue is slowly converted to fibrocartilage as the fossa deepens
and the mandibular condyle develops under functional influences
(Pruzansky 1968; Cleall 1980). Extensive remodeling occurs during
postnatal life. Changes involving increases in the posterior slope of
the articular tubercle and in the depth of the mandibular fossa are
reported up to the fourth decade of life (Pruzansky 1968; Cleall
1980). Postnatal remodeling occurs in the bone adjacent to the joint
119
in harmony with the growth of the condyle and temporal fossa.
Neuromuscular changes and occlusal status are also reflected in
discrete bony and functional changes in the joint region.
CLASSIFICATION OF CONGENITAL
DEFORMITIES AND DEVELOPMENTAL
ABNORMALITIES OF THE
MANDIBULAR CONDYLE
Hypoplasia or aplasia
Hypoplasia or aplasia of the mandibular condyle indicates under-
development or nondevelopment associated mainly with various
craniofacial abnormalities. These may be either congenital or
acquired (Berraquero et al. 1995; Tank et al. 1998; Lee et al. 2001).
Congenital condylar hypoplasia is characterized by unilateral or
bilateral underdevelopment of the mandibular condyle, and usually
occurs as part of some systemic condition originating in the first
and second branchial arches, such as mandibulofacial dysostosis
(Table 1). Acquired (secondary) condylar hypoplasia may be
caused by local factors (trauma, infection of the mandibular bone
or middle ear, irradiation) or by systemic factors (toxic agents,
rheumatoid arthritis, mucopolysaccharoidosis) (Tank et al. 1998).
Recent reports have shown that various extracellular matrix pro-
teins, such as transforming growth factor-b (TGF-b), play impor-
tant roles affecting Meckel’s cartilage as a template for normal
mandibular development (Ito et al. 2002; Shibata et al. 2004; Tang
& Rabie 2005). Prenatal jaw movement is also an important
mechanical factor in all processes of mandibular condyle formation
(i.e. proliferation, differentiation, and apoptosis of chondrocytes in
the condylar cartilage [Matsuda et al. 1997; Habib et al. 2005]). In
this section, hypoplasia or aplasia of the mandibular condyle is
classified into two major groups and five subgroups (Table 1).
Primary condylar aplasia and hypoplasia
Aplasia of the mandibular condyle is a rare anomaly, and there are
not many reported cases of it. Any disturbance of the condylar
cartilage that decreases its growth activity will result in underde-
velopment of the mandible (Walker 1968; Sarnat 1969; Ferri et al.
2006). Aplasia and hypoplasia of the mandibular condyle may
result from some type of systemic or nonsystemic disturbance
(Thoma 1969; Cohen 1995c,d). Aplasia and hypoplasia of the man-
dibular condyle may be associated with the microtia, part of the
temporal bone, and the absence of the entire ramus (Fig. 1a–c).
Bilateral aplasia and hypoplasia of the mandibular condyle lead to
the underdevelopment of the mandible, resulting in a lack of sym-
metrical growth of the mandible, micrognathia characterized by
bird face, and a markedly short mandible (Fig. 1a,b,d–f). Aplasia
and hypoplasia should be differentiated from hemifacial atrophy,
which involves both bone and soft tissue. Neurotrophic and trau-
matic factors have been cited as possible causes of hemifacial
atrophy. This congenital defect belongs with those deficiencies
associated with the first branchial arch syndrome (Walker 1968;
Krogstad 1997; Santos et al. 2007). In this case of faulty specialized
cellular differentiation, the mandibular condyle may be absent
either as an isolated entity or in association with variable degrees of
the absence of the mandibular ramus and condyle (Walker 1968;
Krogstad 1997; Santos et al. 2007). Additional abnormal conditions
may involve the external or internal ear, temporal bone, zygoma,
angle of the mouth, and the overall covering soft tissue environ-
ment. When an infant is born with neither a mandibular condyle nor
a propensity to form one, the jaw is asymmetrical and deviating to
© 2008 The Authors
Journal compilation © 2008 Japanese Teratology Society
120 K. Kaneyama et al.

Fig. 1 (a,d) frontal facial photograph and frontal views of a three-dimensional reconstructed image of the head and craniofacial skeletal structures of a
24-year-old patient with bilateral hypoplasia of the mandibular condyle. Note the facial asymmetry with mandibular deviation. (c) Panoramic
radiograph showing bilateral hypoplasia of mandibular condyles (circles) and shortened vertical ramus height (arrow). (b,e,f) Lateral facial photo-
graph, lateral views of three-dimensional reconstructed images of the head and craniofacial skeletal structures: (e) right side (f) left side. Note the
severe mandibular retrusion with microgenia and the decreased vertical ramus height (arrow) characterized by bird face.

the involved side. Developmental condylar aplasia and hypoplasia
with congenital syndrome were subdivided into the five types of
lesions described below.
Mandibulofacial dysostosis (Treacher Collins syndrome)
Mandibulofacial dysostosis (MFD) is a rare syndrome character-
ized by bilaterally symmetrical abnormalities derived from the first
and second branchial arches (Madhan & Nayar 2006; Magalhães
et al. 2007). It is an autosomal dominantly inherited disorder that
arises from aberrations in the development of the facial structures
during histodifferentiation morphogenesis between approximately
the 20th day and 12th week of intrauterine life. These aberrations
result from the destruction of neural crest cells before they migrate
to form the facial processes (Magalhães et al. 2007). Patients with
MFD have also been found to be heterozygous for mutations in
the TCOF1 gene, which encodes the nucleolar phosphoprotein
Treacle (Teber et al. 2004; Gonzales et al. 2005). Treacle is highly
expressed in the first and second branchial arches during early
embryogenesis; these are branchial arches that give rise to struc-
tures affected during early development in MFD patients (Gonzales
et al. 2005). MFD occurs in the range of 1 in 25 000 to 1 in 50 000
live births. In approximately 40% of cases, the transmission is of
autosomal-dominant character, with penetrance close to 100% and
variable expressivity (Magalhães et al. 2007). When the syndrome
is fully expressed, the diagnosis is easily made based on clinical
characteristics alone, as follows. (i) The facial profile is convex,
reflecting hypoplasia of zygoma, maxilla, and mandible with
variable effects on the temporomandibular joints and muscles of
mastication (Madhan & Nayar 2006). (ii) The mandible is under-
developed, resulting in a retruded chin. These facial features have
been described as birdlike or fishlike in morphology. (iii) The eyes
have a lateral downward sloping of the palpebral fissure. (iv) Exter-
nal ears are often absent, malformed, or malposed. (v) Hearing is
impaired as a result of the variable degrees of hypoplasia of the
external auditory canals and ossicles of the middle ears.
Hemifacial microsomia (first and second branchial
arch syndrome)
Hemifacial microsomia (HM) is characterized by aplasia or hypo-
plasia of the mandibular ramus and/or condyle (Gorlin 1970;
Shapiro & Gorlin 1970) (Fig. 2a). HM is a congenital condition in
which the lower half of the face is unilaterally underdeveloped and
does not catch up with normal growth during childhood (Moulin-
Romsée et al. 2004). HM is a common congenital lesion occurring
at a rate of 1 in every 3500 to 5600 births (Cohen 1995a,b; Moulin-
Romsée et al. 2004). A synonym for HM is otomandibular dysos-
tosis. Although ‘hemifacial’ refers to half of the face, the condition
is bilateral in 31% of cases, with one side being more affected
than the other (Cousley & Wilson 1992; Kane et al. 1997; Moulin-
Romsée et al. 2004). In 48% of cases, the condition is part of a
larger syndrome, such as Goldenhar syndrome (Moulin-Romsée
et al. 2004). The clinical picture of HM varies from a slight asym-

© 2008 The Authors

Journal compilation © 2008 Japanese Teratology Society
 Congenital abnormalities of the TMJ
Fig. 2 (a) 17-year-old patient with hemifacial microsomia on the right
mandibular condyle. Note the slight displacement of the chin
midline to the affected right side. (b,c) Panoramic and frontal view
radiographs suggestive of hypoplasia of the mandibular condyle on
the right side (circle) and shortened vertical ramus height (arrow).
Facial asymmetry resulting from the reduced size of the right side
can be seen.
metry in the face to severe underdevelopment of half of the face
with orbital implications and a partially or totally formed ear. The
chin and facial midline are off-center and deviate toward the
affected side (Fig. 2b,c). The masticatory muscles that influence
facial expression are hypoplastic on the affected side. The degree of
bone underdevelopment might be directly related to hypoplasia of
the muscle attached to it (Seow et al. 1998; Moulin-Romsée et al.
2004). Until present, the cause of HM has been uncertain, although
it has been mainly considered a developmental abnormality.
Embryologically, the first and second branchial arches, which
contribute to ear formation, are affected (Wiens et al. 2003). It is
hypothesized that a hematoma, caused by damage to the area of the
stapedial artery, interferes with these branchial arches in utero
(Wiens et al. 2003), thus causing hemifacial microsomia with hypo-
plasia. Some reports regarding transgenic or genetic mouse models
of HM basically support the hematoma hypothesis (Otani et al.
1991; Silbergleit et al. 2000; Cousley et al. 2002; Hartsfield 2007).
The transgenic mouse model for craniofacial anomalies demon-
strated an effect on a developmental field at a critical time. That is,
it depends on the time of administration during development-
dependent hemorrhage of the stapedial artery (Silbergleit et al.
2000; Hartsfield 2007). As a result, underdevelopment of one or
both sides of the craniofacies, which is first and second branchial
arch syndrome, was recognized. Investigation of the transgene
insertion mutation Hfm (hemifacial microsomia-associated locus)
121
mouse also supports the hypothesis that at least a proportion of
microtia and hemifacial microsomia occurrences have a genetic
influence mediated through mesenchymal disruptions and possibly
embryonic hemorrhages (Cousley et al. 2002; Hartsfield 2007).
This transgene insertion results in hemifacial microsomia, in-
cluding microtia and/or abnormal occlusion, transmitted as an
autosomal-dominant trait (Otani et al. 1991).
Oculoauriculovertebral syndrome (Goldenhar syndrome)
Oculoauriculovertebral syndrome (OAVS) is often considered a
variant of hemifacial microsomia. OAVS includes the characteristic
hypoplastic mandible (often asymmetric), along with epibulbar der-
moids and vertebral anomalies (Caccamese et al. 2006). OAVS is
now known to be extremely heterogeneous and complex. The
mildest form of this spectrum is expressed as microtia or as a
pre-auricular or auricular abnormality (Hirschfelder et al. 2004;
Caccamese et al. 2006). Involvement is not limited to facial struc-
tures, as renal, genitourinary, cardiac, and skeletal anomalies have
been reported to occur with variable frequency (Caccamese et al.
2006; Lima Mde et al. 2007). The incidence of OAVS in the general
population is approximately 1 in 5600. The oculo-auriculo-
vertebral spectrum has clear etiologic heterogeneity. Multiple chro-
mosomal abnormalities have been linked to this complex, the most
significant of which are deletion 5q, trisomy 18, and duplication 7q.
The constellation of anomalies seen in human hemifacial microso-
mia and associated conditions suggests an origin at about 30 to
45 days of gestation (Caccamese et al. 2006). Hematoma has many
causes, including maternal–fetal hypoxia, hypertension, and anti-
coagulants. It should be noted that although hematoma formation
may explain the hemifacial microsomia phenotype in some spo-
radic cases, it does not explain familial inheritance or the multiple
malformations associated with OAVS.
Oculomandibulodyscephaly (Hallermann-Streiff syndrome)
The essential clinical manifestations of oculomandibulodyscephaly
(OMD), also called Hallermann-Streiff syndrome (HSS), are cran-
iofacial disproportion (birdlike face), bilateral congenital cataracts,
and bilateral microphthalmia. OMD is a congenital disease of
unknown etiology and is associated with proportionate nanism,
hypotrichosis, atrophy of the skin, and dental abnormalities (Shiomi
et al. 1999). OMD probably results from a developmental disorder,
which arises in the 5th to 6th gestational weeks (Nicholson &
Menon 1995). The most likely hypothesis is that it is caused by a
single mutant gene, with most cases representing fresh mutations
(Nicholson & Menon 1995). Defect in elastin and abnormal glyco-
protein metabolism have been reported as well (Nicholson &
Menon 1995). Cardinal features of OMD are dyscephaly with bird
facies; frontal or parietal bossing; dehiscence of sutures with open
fontanelles; hypotrichosis of the scalp, eyebrows, and eyelashes;
cutaneous atrophy of the scalp and nose; mandibular hypoplasia;
forward displacement of the mandibular condyle; high-arched
palate; small mouth; multiple dental anomalies; and proportionate
small stature (Malde et al. 1994). Ophthalmic features are micro-
phthalmia, congenital cataracts, blue sclera, and nystagmus. There-
fore, it is easy to differentiate OMD from other diseases by noting
the presence of congenital cataracts associated with mandibular
hypoplasia producing a birdlike face at birth. OMD rarely occurs;
one survey of the birth prevalence of congenital anomalies in Japan
found only a single case of HSS among 27 472 consecutively born
infants (Nicholson & Menon 1995; Shiomi et al. 1999).
Hurler’s syndrome
Hurler’s syndrome belongs to the category of mucopolysacchari-
dosis (MPS); a spectrum of rare inborn errors of a mucopolysac-
© 2008 The Authors
Journal compilation © 2008 Japanese Teratology Society
122
charide metabolism. These errors are caused by defects in
lysosomal enzymes that degrade mucopolysaccharides (Keith et al.
1990; MacLeod & Macintyre 1993). Hurler’s syndrome was origi-
nally classified as MPS-I, because the two share essentially the
same enzyme defect, a deficiency of a-L-iduronidase (Keith et al.
1990). Patients with Hurler’s syndrome have severe disease with
growth retardation, mental handicap, corneal clouding etc. Among
the clinical features that involve the head and neck regions are
gargoyle-like facies with hypertelorism, a prominent forehead and
supraorbital ridges, scaphocephaly, flattening of the nasal bridge
with a snub nose and large nostrils, and a short neck (MacLeod &
Macintyre 1993). The short neck is accompanied by other skeletal
deformities, of which the most notable is the cat-back shape to the
spine with kyphosis, thoracic gibbus, and short stature. Further
review of the literature revealed that a lack of development of the
mandibular condyles has been noted unilaterally or bilaterally, and
the fact that the TMJ may allow only limited rotation has been
mentioned (MacLeod & Macintyre 1993).
Secondary condylar hypoplasia
If the condyle is injured during active growth, development may
be arrested (Gorlin 1970; Shapiro & Gorlin 1970). The most
common causes are mechanical injury, such as trauma, infection
of the joint itself or the middle ear, and childhood rheumatoid
arthritis (Gorlin 1970; Shapiro & Gorlin 1970; Svensson et al.
2001; Schendel et al. 2007; He et al. 2008). Hypoplasia may
affect one or both of the mandibular condyles. The facial defor-
mity may not become evident until many months after the injury.
Because the normal growth of the mandible depends considerably
on the normal development of mandibular condyles as well as on
muscle function, it is not difficult to understand how condylar
ankylosis may result in a deficient mandible (Shafer 1963;
Schendel et al. 2007; He et al. 2008). In unilateral condylar hypo-
plasia, the continued growth of the contralateral side causes
deviation toward the affected side and results in a cross-bite rela-
tionship of the teeth (Gorlin 1970; Shapiro & Gorlin 1970). On
the affected side, the ramus and body of the mandible remain
underdeveloped. In bilateral condylar hypoplasia, the alterations
described above are present on both sides. There is an associated
micrognathia. In severe micrognathia, the teeth may be markedly
crowded and anterior open bite may develop.
Hyperplasia
Disturbances in the growth pattern of the mandibular condyle
during the normal growth period may result in condylar hyper-
plasia (Sarnat 1969; Buchbinder & Kaplan 1991; Eslami et al.
2003). Condylar hyperplasia is characterized by the gradual
enlargement of the mandibular condyle, progressive unilateral
enlargement of the mandible, facial asymmetry, and shifting of the
midline of the chin to the unaffected side, with resulting cross-bite
malocclusion (Fig. 3a,b). This growth abnormality is usually uni-
lateral and generally observed in patients between 10 and 30 years
of age, with no reported sex or race predilection (Saridin et al.
2007). The etiology of condylar hyperplasia is controversial and
not well understood. Theories include neoplasia, trauma, infec-
tion, abnormal loading, hormonal influences, hypervascularity,
and heredity (Tank et al. 1998; Ishii-Suzuki et al. 1999; Lippold
et al. 2006; Saridin et al. 2007). These proposals are based on the
fact that resected condyle of hemimandibular hyperplasia leads to
the arrest of abnormal growth (Tank et al. 1998; Ishii-Suzuki et al.
1999; Eslami et al. 2003). The ramus and the body on the affected
side of the mandible are longer and larger than those on the oppo-
site side (Fig. 3b,c). The use of technetium 99m diphosphonate
© 2008 The Authors
Journal compilation © 2008 Japanese Teratology Society
K. Kaneyama et al.
bone scans may assist in the differential diagnosis by assessing
the degree of bone turnover in the affected areas (Fig. 3d). Active
condylar hyperplasia exhibits increased uptake of radionuclide on
the hyperplastic side (Buchbinder & Kaplan 1991; Saridin et al.
2007). For reasons yet unknown, one condylar growth center
becomes more active than the other. Enlargement of the mandibu-
lar condyle has been related to abnormally rapid chondrogenesis
with subsequent ossification (Sarnat 1969; Cohen 1995c,d; Eslami
et al. 2003). Since the histologic picture is relatively normal and
the condition is self-limiting, it is not truly neoplastic. A histo-
logic diagnosis of chondroma is made while growth is still active,
and that of osteoma is made after growth has ceased. It has been
reported that the bony trabeculae were often thickened and irregu-
lar, resulting in a consistently large volume of trabecular bone
and a higher-than-normal percentage of surfaces covered in
osteoids (Lippold et al. 2006). Typical histological findings have
also included the presence of an uninterrupted layer of undiffer-
entiated germinating mesenchymal cells, hypertrophic cartilage,
and islands of chondrocytes in the subchondral trabecular bone
(Eslami et al. 2003; Lippold et al. 2006). An increase in the size
of the bilateral mandibular condyle is not frequently proportional
to a generalized increase in the size of the entire skeleton and
leads to macrognathia and protrusion, which refer to the condition
of abnormally large jaws (Shafer 1963). It may be reasoned,
therefore, that excessive condylar growth predisposes an indi-
vidual to mandibular prognathism.
Bifidity (double mandibular condyle, double-headed condyle)
Bifid mandibular condyle (BMC) is a rather uncommon condition
and is characterized by duplicity of the mandibular condyle head
(Antoniades et al. 2004; Ramos et al. 2006; Sales et al. 2007).
Because BMC usually engenders no significant complaints or
clinical features, such as pain or restricted movements, its diag-
nosis usually relies on radiological rather than clinical evidence
(Sales et al. 2007). The etiology and pathogenesis of BMC are
unknown. There is speculation that it may be a developmental
abnormality, due to trauma or endocrinological, pharmacological,
or nutritional disorders. Minor trauma to the condylar ‘growth
center’ may result in condylar bifidism, which then represents a
developmental anomaly (Antoniades et al. 2004). The previously
mentioned and other authors have suggested that a retained
fibrous septum or a vascular structure impedes ossification of
the mandible, splitting the mandibular condyle into two heads
(Antoniades et al. 2004; Shriki et al. 2005; Sales et al. 2007).
Infection, irradiation, and genetic inherence may also play roles,
although this speculation has not been confirmed. Others support
the opinion that BMC develops in cases with insufficient capacity
to remodel the mandibular condyle (Gorlin 1970; Shapiro &
Gorlin 1970). It has been also suggested that apoptosis may play
an important role in eliminating the septum of the mandibular
condyle during development (Matsuda et al. 1997). The bifidity of
the condylar head is mainly unilateral. Interestingly, a patient with
trifid mandibular condyle has also been reported (Artvinli &
Kansu 2003; Antoniades et al. 2004).
ACKNOWLEDGMENTS
This study was partially supported by a Grant-Aid for Scientific
Research (19592323, 19592324) from the Ministry of Education,
Culture, Sports, Science and Technology of Japan.
 Congenital abnormalities of the TMJ 123

Fig. 3 (a) 23-year-old patient with hyperplasia of the right mandibular condyle. Clinical appearance showing facial asymmetry resulting from the increased
length of the right mandibular condyle. (b,c) Panoramic and frontal view radiographs showing the increased length of the mandibular condyle on the
right side (circle). (d) Bone scintigraphic features of hyperplasia of the mandibular condyle on the right side showed a high uptake of bone scintigram
with 99mTc-MDP, resulting in increased levels of growth activity (circle).

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