Syndromes /certified fixed orthodontic courses by Indian dental academy

Malocclusions associated with
syndromes
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What is a syndrome?
An anamolad is a malformation together
with its subsequently derived structural
changes,the primary defect setting off a
series of secondary or even tertiary
events resulting in multiple anamolies.
Syndrome is defined as a set of signs or a
series of events occuring together that
often point to a single disease or
condition as a cause.www.indiandentalacademy.com

Genetic syndromes:
A relatively small number of orthodontic
patients are affected by known genetic
syndromes that affect oral structures.
By far, the most common orthodontic
problem that may be a part of a genetic
syndrome is cleft lip and palate.However
there are many causes for facial clefting
conditions and not all of the causes can be
traced to genetics.www.indiandentalacademy.com

The greatest value in knowing that a
patient has a particular syndrome is that
it allows much better prediction of future
development in the individual who will
not grow in the normal pattern.
Sometimes recognizing a syndrome is
made more difficult by incomplete
expression of the gene or genes involved
– called partial penetrance.

If a genetic syndrome is suspected the
orthodontist should have the patient
evaluated through a clinic that
specializes in such matters.
A patient who has anamolous teeth
should be examined carefully for ear,
hand or other deformities that may
indicate a genetic syndrome.www.indiandentalacademy.com

Genetic influences:
It is widely acknowledged that malocclusions have
a genetic component.Because of the polygenic
inheritance of craniofacial and dental characters,it
is unlikely that simple methods would reveal the
genetic component of most malocclusions.
Studies of twins and of triplets have shown a high
concordance of dentofacial traits in monozygotic
individuals.
Skeletal variations seemed to be more influenced
my heredity and dental variations seemed to be
influenced by the environment.

Syndromes occurring commonly with
malocclusions are classified as:
(Cohen,Proffit,Bell,White )
•Malformation syndromes associated with
mandibular deficiency.
mandibular prognathism.
problems of facial height.
facial asymmetry.www.indiandentalacademy.com

Malformation syndromes associated with
mandibular deficiency:
Robin complex:
Etiology: Heterogenous ,considered a
sporadic or non genetic condition with a
very low recurrence risk in the family.
Striking features: Micrognathia,cleft
palate and glossoptosis. Ensuing
hypoplasia of mandible producing the
characteristic bird facies.www.indiandentalacademy.com

Pierre Robin syndrome can occur
solely or in combination with other
syndromes like the Stickler syndrome,
cerebrocostomandibular syndrome,the
camptomelic syndrome and the
persistent left superior vena cava
syndrome.

Treacher Collins syndrome: ( Mandibulo facial
dysostosis; Franceschetti syndrome )
Etiology: The Treacher Collins syndrome
encompasses a group of closely related defects
of the head and face , often hereditary or
familial in pattern following an irregular form
of dominant transmission. ( Autosomal
dominant ).
Striking features: Symmetrically hypoplastic
low set ears, down slanting palpebral fissures,
micrognathia,sometimes cleft palate.

Hypoplasia of facial bones especially the
malar bones and mandible ,
macrostomia,blind fistulas between the
angles of the mouth and the angles of the
ears are certain features.
The syndrome is thought to result from a
retardation or failure of differentiation of
maxillary mesoderm at and after the 50
mm stage of the embryo.

Nager acrofacial dysostosis:
Etiology: Autosomal recessive trait –
hereditary.
Striking features: Symmetrically
hypoplastic ears , down slanting palpebral
fissures, micrognathia, cleft lip and palate in
some cases,pre axial upper limb deficiency.

Wilder vanck Smith syndrome:
Etiology – Unknown; all cases to date
sporadic.
Striking features:
Symmetrically hypoplastic ears ,
down slanting palpebral fissures,
micrognathia, cleft lip and palate in
some cases; limb reduction defects of
upper and lower limbs.www.indiandentalacademy.com

Hemifacial microsomia ( Goldenhar syndrome ).
Etiology: Most cases are sporadic,few familial
instances in which pedigrees are compatible with
autosomal dominant or recessive inheritance.
Striking features: Unilateral or bilateral
asymmetrically hypoplastic ears and
mandibular ramus;ear tags and/or pits,
micrognathia, variably cleft lip or
palate;equibulbar dermoids; vertebral
anamolies;cardiac defects;renal anamolies;www.indiandentalacademy.com

Mobius syndrome:
Etiology: Unknown ;almost all cases sporadic;
rare familial instances.
Striking features:
Bilateral sixth and seventh nerve palsy and
variably other cranial nerve involvement;high
broad nasal bridge;epicanthic
folds;micrognathia ; talipes equinovarus ; limb
reduction defects; mental deficiency.www.indiandentalacademy.com

Mobius syndrome is otherwise called as
congenital facial diplegia.It is usually
manifested in infancy during the first few
days of life by failure to close the eyes
during sleep.Because of partial or
complete paralysis the infant exhibits no
change in facial expression even while
crying or laughing.
The prominent lips are often everted and
the mouth may remain partially opened.

Hallermann – Streiff syndrome
Etiology: Unknown , all cases to dte
sporadic.
Striking features:- Dyscephaly;
hypotrichosis,congenital
cataracts,beaked nose, micrognathia,
anteriorly placed mandibular
condyles,natal teeth ; oligodontia; short
stature

Malformation syndromes associatred with
Basal cell nevus syndrome ( Gorlin Goltz
syndrome).
Etiology: Autosomal dominant – hereditary.
Striking features – Macrocephaly ; frontal and
biparietal bossing;dystopia canthorum or
ocular hypertelorism; mild mandibular
prognathism;jaw cysts ; multiple basal cell
carcinomas; bifid ribs; spina bifida occulta ;
short fourth metacarpals.www.indiandentalacademy.com

Klinefelter syndrome:
Etiology: Commonly xxy karyotype, but
xxxy and xxxxy also occur.
Striking features: Skeletal disproportion;
small testes; increased urinary
gonadotropins ; gynaecomastia and
mental deficiency in some cases,
mandibular prognathism.Prognathism
increases as number of x chromosomes
increases. www.indiandentalacademy.com

Marfan syndrome:
Etiology: Autosomal dominant.
Defect of fibrillin.
Striking features: Marfanoid habitus;
dolichostenomedia; arachnodactyly;
ectopia lentis ; fusiform and
dissecting aneurysms of aorta ;

Osteogenesis imperfecta;
Etiology:Autosomal dominant ( common
type )
Etiologically heterogenous.
Striking features: Fragile bones;blue
sclerae;deafness;loose
ligaments;dentinogenesis imperfecta like
tooth condition ; mandibular prognathism.

Waardenburg syndrome:
Etiology: Autosomal dominant ( common
type ); etiologically heterogenous with
three other types known.
Striking features: White forelock ;
dystopia canthorum ; heterochromia
irides , synophyrs , mild hypoplasia of
alar cartilages ; mild mandibular
prognathism; sensorineural deafness.

Malformation syndromes associated with
problems of facial height.
Amelogenesis imperfecta:
Etiology:
heterogenous ; several modes of
inheritance depending upon type of
enamel defect and family history.

Striking features: Discolored teeth;
hypomaturation, hypoplasia or
hypocalcification of enamel ; anterior
open bite.

Beckwith Weidemann syndrome:
Etiology: Unknown; most cases sporadic ;
few familial instances.
Striking features: Macroglossia ; anterior
open bite ; mandibular prognathism ;
earlobe grooves; depressions on posterior
rim of the ear;omphalocoele or umbilical
hernia ; neonatal hypoglycemia;
visceromegaly ; postsomatic gigantism;
other abnormalities.www.indiandentalacademy.com

Malformation associated with facial asymmetry:
Hemifacial microsomia ( goldenhar syndrome )
Hemifacial hypertrophy:
Etilogy: Unknown , sporadic occurrence.
Striking features: Hemihypertrophy involving
head , limbs and body;exoression
variable;hypertrophy involves both bone and
soft tissue;tongue,mandible and teeth may be
unilaterally enlarged,ocassionally associated with
Wilms tumour,adrenocortical carcinoma or
hepatoblastoma. www.indiandentalacademy.com

Neurofibromatosis:( von recklinghausens
disease)
Etiology: Autosomal dominant.
Striking features: Café au lait spots,
neurofibromas,other hamartomas and
neoplasms; skeletal defects ; endocrine
disturbances; some patients have
macrocephaly ,craniofacial asymmetry or
hypertrophy of facial soft tissue.

Romberg syndrome:
Etiology: Unknown
Striking features: Hemiatrophy involving
muscle, bone and cartilage ( progressive ).
Involves lip and tongue ; left side
predilection;epilepsy in some
cases;migraine in some cases;small
percentage have body involvement.

Crouzons syndrome:
The craniosynostosis syndromes constitute
a group of conditions each characterized
by premature craniosynostosis occuring in
association with a variety of other
abnormalities.These may or may not occur
with syndactyly,anamolies of the hands and
feet. The most common of the
craniosynostotic syndromes occuring
without syndactyly is Crouzon syndrome.

Majority of cases have followed an autosomal
dominant trait.
Clinical features:
The signs are all basically due to synostosis of the
sutures.The patients show a protruberant frontal
region with an anteroposterior ridge overhanging
the frontal eminence and often passing to the root
of the nose.Hypoplasia of the maxillae and
Eye changes noted – hypertelorism,exopthalmos
with divergent strabismus.

Aperts syndrome:
This is also a type of craniofacial
dysostosis syndrome.Characteristic
difference between Aperts and
Crouzons syndrome is that Aperts
syndrome involves syndactyly.
Otherwise the features are the same as
Crouzons.

Cleido cranial dysostosis:
Etiology: Sporadic.
Clinical features: Characterized by
abnormalities of the skull,teeth,jaws and
shoulder girdle as well as by occasional
stunting of the long bones.
Patient with cleido cranial dysostosis
characteristically exhibit a high narrow
arched palate and actual cleft appears
common.Underdeveloped maxilla.

Downs syndrome:
Trisomy 21 syndrome;Mongolism
Downs syndrome is a disease associated
with subnormal mentality in which an
extremely wide variety of anomalies and
functional disturbances may occur.
Etiological factors: Advanced maternal age
and uterine and placental abnormalities.
Chromosomal aberration. – trisomy 21

Clinical features: Patients with Downs
syndrome are characterised by flat face,
a large anterior fontanel,open
sutures,small slanting eyes with
epicanthal folds,open mouth, frequent
prognathism of mandible , sexual
underdevelopment and cardiac
abnormalities,hypermobility of joints.
Oral findings: Macroglossia,fissured
tongue,microdontia and enamel
hypoplasia,destructive periodontal
disease.

Pfeiffer syndrome:
Acrocephalosyndactyly.

Etiology: Genetic defect,mutation in fibroblast growth factor
receptor 1 gene.
Clinical features: flattened face with maxillary hypoplasia
relative mandibular prognathism
low set ears
hypertelorism
depressed nasal bridge
high arched palate
Short broad thumbs which are often malformed
syndactyly of soft tissue of digits.

Conclusion:
Malocclusions associated with syndromes
should be treated in combination with
various faculty departments involving
surgeons, speech therapists, paediatricians,
prosthetists and orthodontists.
It is important for us to recognize the
common syndromes enumerated above in
order to bring about effective treatment
which would benefit the society.

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Syndromes /certified fixed orthodontic courses by Indian dental academy

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