Craniofacial syndromes /certified fixed orthodontic courses by Indian dental academy

CRANIOFACIAL
SYNDROMES

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INDIAN DENTAL ACADEMY
Leader in continuing dental education


INTRODUCTION
It is small wonder that anomalies of the craniofacial
complex are of major significance not only to dental
health but also to mental health and social wellbeing.
The anomalies of development of the craniofacial
complex are extremely vast and varied. For most
patients, it is difficult or impossible to describe a
specific etiologic cause.
In an adult, the etiologic factors that caused the
problem to develop during growth may no longer
have an effect even if they are still present.
And yet, some thought must be given to etiology
when treatment is planned because this is a major
factor in estimatingwww.indiandentalacademy.com results,
the stability of
particularly in children but also in adults.

GLOSSARY OF TERMS


•SYNDROME: syn= together, dromos= a running
The aggregate of signs & symptoms associated with any morbid
process & constituting together the picture of the disease & related
to each other anatomically, biochemically or physiologically.
•An anomaly is a deviation from the average or norm, anything that
is structurally unusual or irregular or contrary to a general rule.
•A sequence is a pattern of multiple anomalies derived from a
single known or presumed structural defect or mechanical factor.
•An association is a nonrandom occurrence in two or more
individuals of multiple anomalies not known to be a polytopic field
defect, sequence, or syndrome
•Dysmorphology is an area of clinical genetics that is concerned
with the diagnosis and interpretation of patterns of structural
defects. Recurrent patterns of birth defects are the hallmarks of
syndrome recognition. www.indiandentalacademy.com

There are four clinically significant types of congenital anomaly
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Malformation
Disruption
Deformation and
Dysplasia

MALFORMATION :- A morphological defect of an

organ, part of an organ, or larger region of the body that
results from an intrinsically abnormal developmental process
Intrinsic implies that the developmental potential of the
primordium is abnormal from the beginning, such as a
chromosomal abnormality of a gamete at fertilization.
Most malformations are considered to be a defect of a
morphogenetic or developmental field "which responds as a
coordinated unit to embryonic interaction and results in
complex or multiple malformations

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DISRUPTION



A morphological defect of an organ, part of an
organ, or a larger region of the body that results
from the extrinsic breakdown of, or an interference
with, an originally normal developmental process.
Thus,
morphological
alterations
following
exposure to teratogens —agents such as drugs and
viruses — should be considered as disruptions.
A disruption cannot be inherited, but "inherited
factors can predispose to and influence the
development of a disruption."

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DEFORMATION

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An abnormal form, shape, or position of a part of the body
that results from mechanical forces.
Intrauterine compression that results from oligohydramnios — insufficient amount of amniotic fluid —
produces a clubfoot
an example of a deformation
produced by extrinsic forces.
Some central nervous system defects, such as
meningomyelocele — a severe type of spina bifida produce
intrinsic functional disturbances that also cause fetal
deformation.

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DYSPLASIA



An abnormal organization of cells into tissue (s)
and its morphological result (s).
Dysplasia is the process and the consequence of
dyshistogenesis (abnormal tissue formation).
All abnormalities relating to histogenesis are
therefore classified as dysplasias, e.g., congenital
ectodermal dysplasia

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TYPES OF PROBLEMS
IN MORPHOGENESIS

POOR TISSUE
FORMATION

UNUSUAL FORCES
ON NORMAL TISSUE

MALFORMATION

DEFORMATION

BREAKDOWN OF
NORMAL TISSUE

DISRUPTION


ABNORMAL
ORGNZN OF CELLS
IN TISSUE

DYSPLASIA

ANOMALAD:
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Term coined by Dr. F. Clarke Frase
To denote a pattern of morphologic defects stemming from a
single localized structural anomaly, which result in a cascade of
consequent defects.
Ending “ad” is meant to imply more than one defect (as in diad,
triad)
So anomalad connotes the initiating anomaly and its derived
secondary defects.
The cause for initiating structural defect may be heterogeneous,
so anomalad does not connote a particular mode of etiology.
As severity of initial morphologic anomaly may vary, so the
range of severity & extent of anomalad may also be variable.
Eq. Robin Anomalad

CLASSIFICATI
ON

1) Richard & Goodman classified multiple
malformation disorders as :
i) Syndrome
a) Chromosomal abnormality
b) Gene abnormality
c) Environmental factor
ii) Anomalad
iii) Association
iv) Combination of malformations not
assigned to any of above categories.

2) Embryonic or histologic classification:
i) Single germ layer involved
ii) All the three germ layers involved
ex. Gardner syndrome
3) Monothetic syndrome classification:
Syndromes that share single common feature are grouped
together.
ex. Syndromes with cleft palate
Syndromes with polydactyly
This aids in differential diagnosis
4) Polythetic classification:
Syndromes sharing a large proportion of their principal
anomalies are grouped together.They are even better aid in
differential diagnosis.

5) Syndrome prototype: By Herrmann & Opitz 1974 & Cohen 1982
i)

Dysmetabolic syndrome (Metabolism)

iii) Malformation syndrome (Organ or Feild)

•
•
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•
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Normal at birth,
Uniform clinical features,
No congenital malformations,
Biochemically defined,
Recessive mode of inheritance
eg. Hurler Syndrome
Tay- Sachs Disease

• Noncontiguous Malformation
• Embryonic Pleiotropy
• Lack of biochemical definition
• eg. Trisomy 13 syndrome
Rubenstein Tyabi Syndrome
iv) Dyshistogenetic syndrome (Tissue)

1) Simple
• Involvement of only 1 germ layer
ii) Deformation syndrome (Region)
• Inheritance- dominant or recessive
• Changes in shape of previously normal • eg. Achondroplasia
structures
•
Lack of movement- mechanical ,
2) Hamartoneoplastic Sydrome
• Hamartomas or neoplasias
functional
•
• More than 1 germ layer
Commonly affects musculoskeletal
• Commonly dominant
system
• eg. Peutz Jeghers Syndrome
Gardners Syndrome

Graphic illustration of the causes
of human birth defects
Unknown Etiology
Multifactorial
Inheritance
Chromosomal
Abnormalities
Mutant Gene
Environmental
Agents

1. Syndrome Associated With Midfacial Deficiency
2. Syndromes Associated With Midfacial Excess
3. Syndromes Associated With Mandibular Deficiency
4. Syndromes Associated With Mandibular Prognathism
5. Syndromes Associated With Problems Of Facial Height
6. Syndromes Associated With Facial Asymmetry
7. Syndromes Associated With Ocular Hypertelorism
8. Syndromes Associated With Chromosomal Disorders
9. Environmental Induced Syndromes
10.Other Common Syndromes

Syndrome Associated With Midfacial Deficiency
•Achondroplasia
•Apert Syndrome
•Crouzon Syndrome
•Pfeiffer Syndrome
•Stickler Syndrome
•Cleidocranial Dysplasia
•Ectodermal Dysplasia
•Marfan Syndrome
•Treacher Collins Syndrome
•Hemifacial Microsomia( Goldenhar Syndrome)
•Gorlin Syndrome
•Waardenberg Syndrome
•Larsen Syndrome
•Oral – Facial – Digital Syndrome
•Frontonasal Dysplasia

ACHONDROPLASIA
The term Achondroplasia was first used by Parrot in 1978 to describe short
limbed dwarfism associated with enlarged head.
AETIOLOGY:•Autosomal dominant, about 90 percent of the cases
represent a fresh gene mutation.
•Older paternal age has been a contributing factor in
these cases.
• It is a disturbance of Endochondral bone formation.
•The most common chondrodysplasia, true
achondroplasia, occurs with a frequency of
about 1 in 15,000.
CLINICAL FINDINGS:•Small stature. Mean adult height in males is 131 ± 5.6
cm and in females is 124± 5.9 cm.
•Megalocephaly
•Small foramen magnum
•Short cranial base with early spheno occipital closure.
•Low nasal bridge with prominent forehead.
•Mild midfacial hypoplasia with narrow nasal passages

•Short Limbed dwarfism
•Waddling gait with exaggerated lordotic
lumbar spine
• Prominent Buttocks
• Protuberant abdomen
•Short trident hand, fingers being similar in
length, with short proximal and mid phalanges.
•Short femoral neck; incomplete extension of
elbow.
•The metacarpals and phalanges are
shortened


LeFort III osteotomy

TREATMENT
•Correction of class III
malocclusion and midface
deficiency in achondroplasia
ideally is accomplished by a
LeFort III osteotomy to move
the entire midface forward.
•Unfortunately, no analogous
surgical procedure exists to
deal with the limb deficiencies
although progress has been
made recently toward
lengthening the short limbs


Pre- treatment

Post- treatment

CRANIOSYNOSTOSIS SYNDROMES
These constitute a group of conditions each characterized by premature fusion
of the cranial sutures resulting in disproportionate growth of the cranial bones
and as a sequence the growth of the facial bones.

TYPES OF
CRANIOSYNOSTOSIS
•Scaphocephaly (Sagital Suture)
•Trigonocephaly (Metopic suture)
•Turricephaly (Bilateral Coronal
•Suture)

•Plagiocephaly
•Frontal Plagiocephaly ( Unilateral Coronal Suture)
•Occipital Plagiocephaly (Unilateral Lambdoid Suture)
•Parallelism ( Frontal Bone/Contralateral Occipital Lobe)

APERT SYNDROME
•The condition was reported by Wheaton in 1894.
• In 1906, Apert summarized nine cases, and in 1920,
Park and Powers published an exceptional essay on this
entity. Numerous cases have been reported.
AETIOLOGY:•Autosomal dominant
•Most cases sporadic
•Estimated in 1 in 160,000 live births
•Apert FGFR2 mutation lead to an increase in the
number of precursor cells that enter the osteogenic
pathway,leading ultimately to increased subperiosteal
bone matrix formation and premature calvaria
ossification during fetal development

Clinical Features
Craniofacial.
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Short anteroposterior diameter
with high, full forehead and flat
occiput.
Irregular
craniosynostosis,
especially of coronal suture.
Fontanels may be large and late
in closure.

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Flat facies,
Supraorbital horizontal
groove,
Shallow orbits,
Hypertelorism,
Strabismus,
Down-slanting of palpebral
fissures,
Small nose, .
Lips frequently assume a
trapezoidal cofiguration in the
relaxed state.

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Maxillary hypoplasia
The maxillary dental arch may be
V-shaped with severely crowded teeth and
bulging alveolar ridges..
Narrow palate with median groove, with or
without cleft palate or bifid uvula.


DENTAL ANOMALIES
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Delayed and/or ectopic eruption and
shaped incisors. .

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Supernumerary teeth have been observed.

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Class III malocclusion is usually present, with
anterior open bite or cross bite and unilateral or
bilateral posterior crossbite.

shovel-

OTHER CLINICAL
FINDINGS
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Syndactyly in varying degrees generally affecting second to
fourth fingers and usually all toes.
Considerable range of mental deficiency noted although
normal intelligence occasionally found.
Numerous skeletal abnormalities of elbow, shoulder, lip,
and cervical spine.
Various cardiac and gastrointestinal malformations are
noted.
Acne vulgaris about forearms common
Hearing loss.

TREATMENT
Goals of surgery
-Increase intracranial space in the
anterior cranial vault for the brain.
-To increase the orbital volume.
-To improve the morphology of the
forehead and upper orbits.
Thus it requires
-Bicoronal suture release with
decompression
-simultaneous cranial vault and
upper orbital Osteotomies with
reshaping and advancement.
Usually done at 9 to 11 months
PRE
of age unless signs of increased
TREATMENT
intracranial pressure are identified
earlier in life.

POST

CROUZON DISEASE
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In 1912 Crouzon first described a woman and her son
with this disorder.
In 1915 he reported a family in which seven of twenty one
members affected and thus stressed the genetic aspects
of the syndrome

ETIOLOGY
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Autosomal dominant
Wide range of expressivity
About one third cases arise as a new mutation

CLINICAL FEATURES
•Premature closure, especially of coronal suture,
occasionally lambdoidal.
•Variable cranial form depending on order and rate of
progression of suture closure
• Optic nerve damage

FACIAL FEATURE
 Exophthalmos
 Divergent strabismus
 Hypertelorism
 Short upper lip
 Hypoplasia of maxilla with
relative mandibular prognathism
 Nose may appear beaked because
of midfacial hypoplasia
 High arched, short palate
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V-shaped maxillary dental arch.
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Crowding of the upper teeth.
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Class III Malocclusion
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Bilateral Atresia of Auditory
meatus
noted occasionally

PFEIFFER SYNDROME
• Described by Pfeiffer in 1963 in eight members of one family
•Autosomal dominant inheritance pattern.
ETIOLOGY:
• It is heterogeneous because it is caused by a single recurring
mutation(Pro 252 Arg) of the FGFR1 gene and by several different
mutations affecting FGFR2.
•Type I
•Type II
•Type III


PFEIFFER SYNDROME
·Generally compatible with life
• Tower Skull
· Normal or near normal intelligence
· Bilateral coronal synostosis
· Midface growth often normal.
· Minimal Ocular proptosis..
· Hydrocephalus is absent.
· Supraorbital ridge recessed.
· Anterior cranial base short and wide
• Orbits are shallow,eyes are proptopic
with a degree of hypertelorism
•Syndactyly
• Great toe deviated medially

TREATMENT
• Primary cranio-orbital decompression and reshaping in
infancy at 9-11 months of age.
•Management of total midface deformity.
•A frontofacial(monobloc) osteotomy with horizontal
advancement and need for additional segmentation of the orbits
to normalize the dysmorphology is generally required.
•Le Fort III osteotomy.
•Age of treatment:5 to 7 years of age.
•Management of orthognathic deformity in adolescents.
•Mandible has a normal basic growth pattern, as the growth of
maxilla may be limited, Angles class III malocclusion with
anterior open bite often results
•A Le Fort I Osteotomy with horizontal advancement
Segmentation in combination with an oblique osteotomy of the
chin(genioplasty) to correct lower face deformity.

STICKLER SYNDROME (1965)
•Autosomal dominant, high degree of
penetrance
•Flattening of midface and nasal bridge
•Facial Asymmetry
•Micrognathia
•Submucous palatal cleft
•Epicanthal folds
•Myopia
•Hearing Loss
•Bony enlargement of joints
•Joint hypermobility
•Hip joint Deformity
•Occasional Mental Retardation

CLEIDOCRANIAL DYSPLASIA
Syn. : Marie Sainton Disease, Cleidocranial dysostosis
 In 1765 Martin first reported the clavicular findings
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In 1897 Marie and Sainton noted the genetic
transmission and coined the name cleidocranial
dysostosis

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In 1975 Goodman and co-workers described an
autosomal recessive form of the disease

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Autosomal dominant with wide variability in expression,
but usually showing penetrance.

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Autosomal Recessive disease is usually more severe

CLINICAL FEATURES:
Growth.
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Slight to moderate shortness of stature.
Craniofacial.
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Brachycephaly with bossing of frontal,
parietal, and occipital bones;
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Late closure of fontanels and
mineralization of sutures;
 Late or incomplete development of
accessory sinuses and mastoid air cells;
 Wormian bones
 Small sphenoid bones.
 Calvarial thickening.
 Midfacial hypoplasia with low nasal
bridge, narrow high-arched palate.
 Hypertelorism.

DENTITION
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Late eruption,
Malformed roots,
Retention cysts,
Enamel Hypoplasia,
Caries,
Supernumerary teeth.
CLAVICLE AND CHEST

•Partial to complete
aplasia of clavicle with
associated muscle
defects,
•small thorax with short
oblique ribs.

MARFAN SYNDROME
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A hereditary disease transmitted as an autosomal
dominant trait.
It is basically a disease of connective tissue related to a
defective organization of collagen. Here collagen is
abnormally soluble.
An outstanding feature is excessive length of tubular bones
resulting in :
Dolichostenomelia  disproportionately long thin
extremities
Arachnodactyly  spidery fingers.
Shape of face and skull is long and narrow
Hyperextensibility of joints, habitual dislocations,
Kyphosis or scoliosis, flat foot.

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Myopia is usually present
Cardiovascular
complications – aortic
aneurysm and aortic
regurgitation, valvular
defects, enlargement of the
heart.
High arched palatal vault
is very prevalent and may
be a constant finding.
Odontogenic cysts of
maxilla and mandible
TMJ dysarthrosis


TREACHER COLLINS SYNDROME
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Autosomal dominant condition with variable expressivity.
Bilateraly symmetrical abnormalities of structures within
the first and second branchial arches.
Incidence:1 in 25,000 to 1 in 50,000 live births.
Pathogenesis:- Theories include failure of differenciation
of the branchial arch mesoderm, defective facial bone
ossification, and tissue ischemia resulting from stapedial
artery hypoplasia.
Behrents, Mcnamara, and Avery pointed out that all major
aspects of MFD are fully expressed by the 15th week of
embryonic development.
Current research suggest that the abnormality may occur
early as developmental defects of the neural crest cells

CLINICAL FEATURES
CRANIUM
•Flat parieto-occipital Bone
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MIDFACE
Antimongoloid palpebral Fissures
Colobomas of lower eyelid
Eyelash(or Follicle) Malformations
Malar defects
Atresiaof lacrimal puncta
Macrostomia
Auricular defects
External auditory canal defects
Preauricular hair displacement
High arched palate Nasal deformity
Preauricular sinuses
Malocclusion

· MANDIBLE
Mandibular defects
• Micrognathia
• Open bite
•

OTHER FEATURES
Fish like facial Appearance
• Deafness frequent
• Mental retardation
Infrequent
•


TREATMENT
•
•
•
•
•
•

Zygomatic and orbital reconstruction.
Maxillomandibular reconstruction.
Nasal reconstruction.
Soft tissue reconstruction
External ear reconstruction.
External auditory canal and middle ear reconstruction


HEMIFACIAL MICROSOMIA
Syn.:- Goldenhar syndrome, Occulo Vertebral Dysplasia
The term Hemifacial microsomia was issued by Gorlin to describe
patients with unilateral microtia , macrostomia and failure of formation of
the mandibular ramus and condyle.
•Gorlin suggested that the Goldenhar syndrome was a variant of this
complex characterized in addition by vertebral anomalies and epibular
dermoids

AETIOLOGY :•The mode of inheritance is not established with rare familial aggregation
•Multifactorial, Drugs- Thalidomide, Triazene
•Poswillo, using animal model of hemifacial microsomia, was able to
show that destruction of differentiating tissues in the region of the ear
and jaw by an expanding hematoma produced a branchial arch dysplasia.
•Thus a vascular abnormality can disrupt the normal embryologic
development of first and second branchial arches

CLINICAL FEATURES
•Prominent fore head
•Midfacial Asymmetry
•Varying malformation of the mandible
•Flattened gonial angle and narrowed maxilla
on the involved side
•Maxillary, temporal and malar bones on the
involved side are reduced in size
•Muscles of palate, mastication, tongue, face
may be hypoplastic or paralyzed
•Malformation of the external ear may vary
from displaced pinna to complete aplasia
•Macrostomia of mild degree and crowding of
teeth
•Palpebral fissures slant downwards


OTHER CLINICAL FEATURES
•Mild mental retardation
occasionally
•Bony anomalies, especially of the
vertebral column
•Congenital heart diseases like
VSD and hypoplasia of the lung
TREATMENT
•Mandibular osteotomies to reposition the mandible.
-Unilateral mandibular osteotomy.
-Bilateral mandibular osteotomy.
-Le fort I osteotomy to correct the maxilla.
•Functional orthopedic appliance therapy.
•Orthodontic therapy after combined surgical correction

FRONTONASAL DYSPLASIA
Syn.:- Median Cleft Face Syndrome
AETIOLOGY :•The basic defect is unknown but thought to result from failure of flow of
ectomesenchyme allowing brain vesicle to fill space normally occupied
by the nasal capsule
CLINICAL FEATURES:•Facial alteration graded from mild to severe
•Anterior encephalocoele in some
•Occular hypertelorism
•Microopthalmia
•Nose often flattened with widely spaced nostrils
•Cleft lip
•Mental Retardation


Syndromes Associated With Mandibular
Deficiency
•Robin Anomalad
•Nager Acrofacial Dysostosis
•Wilder Vanek – Smith Syndrome
•Moebius Syndrome
•Hallermann- Streiff Syndrome
•Treacher Collins Syndrome


PEIRRE ROBIN ANOMALAD
In 1923 Robin reported this condition, In 1975 the term
anomalad was joined
AETIOLOGY
•May be isolated or in association with other syndromes eg.
Stickler syndrome, Fetal Alcohol Syndrome, drug induced
syndromes.
•The primary defect lies in arrested development and
ensuing hypoplasia of the mandible, ultimately producing
the characteristic “bird facies”.
•This in turn prevents the normal descent of the tongue
between the palatal shelves, resulting in cleft palate.
Because of this mechanism a cleft lip is not found in
conjunction with the cleft palate.

•Incidence is 1 in 39,000 live births

CLINICAL FEATURES
•The primary components are cleft palate
micrognathia and glossoptosis.
•Occasional hydrocephaly or
microcephaly
•U shaped cleft palate
• Mandibular hypoplasia
•Eye anomalies such as congenital
cataract
•Deafness
•Mental retardation
•Sternal Anomalies
•Congenital heart defects
•Jaw malformation may result in
respiratory difficulty as the tongue may
fall back and obstruct the epiglottis.

NAGER ACROFACIAL DYSOSTOSIS
•Possibly autosomal Recessive inheritance

CLINICAL FEATURES
•Malar Hypoplasia
•Down slanting palpebral fissures
•Absent Eyelashes
•Cup shaped low set ears
•Cleft palate
•Micrognathia
•Missing or hypoplastic thumbs
•Syndactyly


•Abnormal Radius or Ulna

MOEBIUS SYNDROME
Syn.:- Congenital Facial Diplegia
•Basic defect is unknown but nuclear hypoplasia accounting for
cranial nerve paralysis has been documented

CLINICAL FEATURES
•Both 6th and 7th nerve palsy.
•Bilateral facial paralysis
•Convergent Strabismus
•Protruding malformed ears
•Micrognathia, high broad nasal bridge
•Atrophy of tongue due to lack of hypoglossal innervation
•Drooping angles of the mouth
•Limb reduction defects


Syndromes Associated With Mandibular
Prognathism
•Klienfelter Syndrome
•Osteogenesis Imperfecta
•Gorlin Syndrome
•Marfan Syndrome
•Waardenberg Syndrome


KLINEFELTER SYNDROME
• Due to non disjunction of the X chromosome during meiosis
• Commonly affects males and the have an extra X chromosome
XXY, XXXY

CLINICAL FEATURES
• Skeletal disproportion
• Mandibular prognathism
• Hypertelorism, Strabismus
• Upward slant of the Palpebral fissure
• Depressed Nasal bridge
• Cleft Palate
• Taurodontism
• Mental Deficiency


OSTEOGENESIS IMPERFECTA

Syn.:- Brittle bones disease
•Van der Hoeve in 1918

•Disturbance of mesodermal tissues especially calcified tissues

CLINICAL FEATURES
•Extreme fragility and porosity of bones with increased
proneness to fracture
•Blue Sclera, D/D Ehler Danlos syndrome, Marfan syndrome
•Dentinogenesis Imperfecta
•Triangular facies with craniofacial disproportion
•Ears displaced/ Deafness
•Mandibular prognathism
•Short stature due to repeated fractures
•Loose ligaments- dislocation of the TMJ

GORLIN AND GOLTZ SYNDROME
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

(Jaw cyst basal cell nevus bifid rib syndrome)
1st described by Binkley and Johnson in 1951, thoroughly
reviewed by Gorlin et al.
It is transmitted as an autosomal dominant trait
CLINICAL FEATURES
•Cutaneous anomalies : Basal
cell carcinoma, other benign
dermal cysts and tumors.
•Palmar pitting, palmar and
plantar keratosis and dermal
Basal Cell Carcinoma
calcinosis.
• Dental and osseous lesions :
Odontogenic keratocyst (often
multiple), mandibular
prognathism.
•Bifid ribs, vertebral anomalies,

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Eyes Hypertelorism with wide nasal
bridge,congenital blindness
Neurologic anomalies Mental
retardation, dural calcification,
agenesis of corpus callosum,
congenital hydrocephalus
Sexual abnormality Hypogonadism
in males, ovarian tumors
Oral findings odontogenic
keratocysts
As they often develop early in life,
deformity and displacement of
developing teeth may occur.

TREATMENT
•Several cases of ameloblastoma have developed in
cysts of this syndrome
•This emphasizing the importance of surgery of
normal cysts and and their histologic examination

Syndromes Associated With Problems
Of Facial Height
•Amelogenesis Imperfecta
•Beckwith – Weidmann Syndrome


BECKWITH WIEDMANN SYNDROME
•Uncertain mode of inheritance although familial occurrence has
been observed

CLINICAL FEATURES
•Macroglossia
•Anterior open bite
•Earlobe grooves
•Depression on posterior rim of ear
•Exopthalmos
•Infra orbital hypoplasia
•Midfacial recession
•Mild mental retardation
•Neonatal hypoglycemia


Syndromes Associated With Facial
Asymmetry
•Hemi Hypertrophy
•Facial Hemiatrophy
•Neurofibromatosis
•Hemifacial MicrosomIa


FACIAL HEMIHYPERTROPHY
AETIOLOGY
•Condition has been ascribed to hormonal imbalance, chromosomal
abnormalities, Localized alteration on intrauterine development,
lymphatic abnormalities vascular abnormalities

CLINICAL FEATURES
•Enlargement of one half of the head
•Dentition on the affected side of abnormal
shape and size
•Both bone and soft tissue is involved
•Tongue involvement is common
•Mandibular hemihypertrophy
•May be associated with Wilm’s tumor of
the kidney and adrenal cortical carcinoma

FACIAL HEMEATROPHY
Syn.:- Parry Romberg Syndrome
AETIOLOGY
• Exact cause is unknown but suggested factors are
1. Trophic malformation of the
cervical sympathetic system
2. Trauma
3. Infection
4. Heredity
5. Peripheral Trigeminal Neuritis
6. Form of localized Scleroderma
• Onset is noticed in the 1st or 2nd decade of life as a white line,
furrow on one side of the face or brow near the midline
• This initial lesion extends to include atrophy of the skin,
subcutaneous tissue muscle and bone depending on the severity
of the atrophy

CLINICAL FEATURES
•Unilateral facial involvement
•Trigeminal neuralgia or parasthesia
•Vitiligo
•Atrophy of half of tongue
•Delay in dental eruption on the affected
side
•Eye involvement
•Migraine headaches or epilepsy
•Affected skin becomes darkly pigmented
•Loss of facial hair
•Predilection for involvement of left side
of face

NEUROFIBROMATOSIS
Syn.:- Von Recklinghausen’s disease
•Simple autosomal dominant inheritance with variable penetrance
•Incidence of 1 in 3000 live births
•Two types- superficial nodules, deeper diffuse lesions

CLINICAL FEATURES
•Café- au-lait spots
•Neurofibromas of tongue skin
•Skeletal defectswhen tumor is located within bone
•Endocrinedisturbances
•Macrocephaly
•Mandibular asymmetry
•Malignant transformation of lesions in 15%
•Associated congenital defect mental retardation and ocular

Syndromes Associated With Ocular
Hypertelorism
•Apert Syndrome
•Basal Cell Nevus Syndrome
•Crouzon Syndrome
•Frontonasal dysplasia
•Fetal Face Syndrome
•Hypertelorism- Hypospadias Syndrome
•Noonan Syndrome
•Oro facial Digital Syndrome


FETAL FACE SYNDROME
•Syn.:- Robinow Syndrome
•Both autosomal dominant and recessive inheritance

CLINICAL FEATURES
•Facial resemblance to a fetus of 8 weeks
•Frontal bossing
•Hypertelorism
•Short upturned nose
•Macrocephaly
•Triangular mouth with downturned corners
•Dental malalignment
•Vertebral anomalies


NOONAN SYNDROME
CLINICAL FEATURES
•Broad forehead
•Coarse hair
•Flat nasal bridge
•Small receding chin
•Sad facial expression
•High arched palate
•Dental anomaliess with malocclusioncleft uvula
•Webbing of neck
•Congenital heart disease


ORO FACIAL DIGITAL SYNDROME
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In 1954 Papillon described a syndrome characterized by
congenital anomalies of the face, oral cavity, and digits
X-linked dominant
Possibly 1 in 250,000

CLINICAL FEATURES
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Frontal bossing
Alopecia or dryness of scalp
Pseudocleft of mid-upper lip
Cleft or defect of hard palate
Malposition of teeth
Supernumerary teeth
Hypoplasia of malar bones
Broad nasal root

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Cleft tongue
Ankyloglossia
Absence of lower lateral incisors
Thick fibrous bands (frenula) in
upper and lower mucobuccal
fold
mental retardation
Abnormalities of hair and
sebaceous glands
Digital anomalies include
syndactyly, clinodactyly,


Syndromes Associated With Chromosomal
Disorders
Down Syndrome
•Trisomy 18
•Trisomy 13
•Turner Syndrome
•


DOWN SYNDROME
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In 1866 Langdon Down first adequately described this
syndrome.
This disease is the most common chromosomal abnormality
to occur in man.
3 forms of down syndrome:
a) Typical trisomy 21 with 47 chromosomes (95% of cases)
b) Translocation type- Here the extra chromosome material of
number 21 is translocated to another chromosomed of G or
D group (3%)
c) Chromosomal mosaicism (about 2% of cases)
The risk of having an affected child of the typical trisomy 21
type is one is 2000 live births in women under 30 years of age
Rises dramatically to one is 50 live births is women over 45
years of age.
Overall incidence is 1 in 600 live births

CLINICAL FEATURES
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Brachycephalic skull
Open metopic suture, late closure of
fontanels
Hypoplastic maxilla and nasal bones
Flattening of nasal bridge, orbital ridges,
and maxilla
Ocular hypotelorism
Short hard palate
Cleft lip/palate about 3 times frequency in
normal population
Protruding fissured tongue with hypertrophy
of papillae
Dentition delayed, increased periodontal
disease, and reduced dental caries

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Oblique palpebral fissures
Epicanthal folds
Spotting of iris
Cataracts
Strabismus
Small ear
Excessive skin on nape
Reduced Height
Delay in skeletal maturation
Short Broad Neck
Hypermobility of Joints.
Cardiac abnormalities
IQ range from 25 to 70 and decreases with age.
Simian crease and clinodactyly

TRISOMY 18 – EDWARDS SYNDROME
•Triplication of chromosome 18, most common cause is non disjunction .

CLINICAL FEATURES
•Prominent occiput
•Micrognathia
•Small oral opening
•Short upper lip
•Cleft lip and palate
• narrow palatal arch
•Short palpebral fissures
•Corneal opacities
•Microopthalmos
•Low set malformed ears
•Short neck


TRISOMY 13 – PATAU SYNDROME
•Trisomy 13 stated account for 15 % of the spontaneous abortions and
there is a substantial tendency for recurrence

CLINICAL FEATURES
•Microcephaly
•Port wine stain in glabellar area
•Scalp defects in parietoccipital area
•Absent eye brows
•Shallow supraorbital ridges
•Micropthalmos with multiple eye defects
•Deafness
•Cleft lip and palate
•Micrognathia
•Congenital abnormalities involving heart, kidney, brain and GIT

TURNER SYNDROME
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About 1% of monosomy X female embryos
survive.
The incidence of 45, X or Turner syndrome in
newborn females is approximately 1 in 8000 live
births.
It accounts for about 18% of all abortions
caused by chromosome abnormalities.
Half the affected individuals have 45, X; the
other half have a variety of abnormalities of a
sex chromosome
The phenotype of Turner syndrome is female.
Secondary sexual characteristics do not
develop in 90% of affected girls and hormonal
replacement

CLINICAL FEATURES
1. Facies -shows premature
aging
2. Face frequently heart shaped
3. Multiple eye findings
including cataract,
strabismus, blue sclera.
4. Color Blindness
5. Depressed Corners of mouth
6. High arched palate
7. Dental malocclusion
8. Micrognathia
9. Prominent ears

OTHER CLINICAL FINDINGS
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Short stature, average adult height 140 cm
Webbed neck
Shield-like chest
Undeveloped breasts


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Low hairline on posterior neck
Infant often presents with
lymphedema of hands and feet
Short fourth metacarpal bone
in some patients
Hypoplastic toenails


Environmental Induced Syndromes
An environmental agent which is demonstrated to have a
statistically significant, nonrandom association with a
particular congenital malformation or set of malformation
is termed as environmental teratogenic agent or
teratogen.

•Potter Syndrome
•Fetal Alcohol Syndrome
•Fetal Hydantoin Syndroem


POTTER SYNDROME
AETIOLOGY :- Oligohydraminos- reduced amniotic fluid
CLINICAL FEATURES
•Prominent skin fold from the inner canthus to the cheek
•Flattened nose with downward turned nasal tip
•Large flattened ears
•Micrognathia
•Mandibular asymmetry
•Congenital sternomastoid torticollis
•Clefts of lip and palate
•Micropthalmia

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FETAL ALCOHOL SYNDROME
Infants born to chronic alcoholic mothers
exhibit a specific pattern of defects, including
prenatal and postnatal growth deficiency,
mental retardation, and other anomalies.

Exposure to high level of ethanol at an early
stage of fetal development produces fetal
alcohol syndrome [FAS]

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Deficiencies of midline tissue
of the neural plate very early in
embryonic development give
rise to a sires of malformation
collectively known as the
holoprosencephalies
which
are characterized by a failure of
the first three ventricles of the
brain to separate
The olfactory placodes which
are partly derived from the
anterior neural plates, are too
close together, and this causes
deficient development of the
median
and
nasal
prominences.
The result is a spectrum of
facial deformities ranging from
total absence of the nose and
related structures to an intact
but
moderately
underdeveloped midface.

FETAL HYDANT01N SYNDROME
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The fetal hydantoin syndrome occurs in 5 to 10% of
children born to mothers treated with phenytoins or
hydantoin anticonvulsants.
GENERAL CLINICAL FEATURES
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Short neck,
 Rib anomalies,
 Umbilical and inguinal hernias,
 Coarse profuse scalp hair, hirsutism,
 Low-set hairline,
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Abnormal palmar crease.
 Strabismus.

CLINICAL FEATURES

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Microcephaly
Wide anterior fontanel
Metopic ridging
Ocular hypertelorism
Broad, depressed nasal bridge
Short nose with bowed upper lip
Broad alveolar ridge
Cleft lip and palate

Limbs
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Hypoplasia of distal phalanges with
small nails, especially postaxial digits;
Low arch dermal ridge patterning of
hypoplastic fingertips;
Digitalized thumb;
Dislocation of hip.


Other Common Syndromes
• Binder Syndrome
• Ehlers Danlos Syndrome


BINDER SYNDROME
Syn. :- Maxillonasal Dysostosis
•Affects primarily the anterior part of the maxilla and nasal complex
•Initially described by Noyes in 1939, but clinically defined as a syndrome
by Binder in 1962

CLINICAL FEATURES
•Failure of development in the premaxillary
area, with associated deformities of the nasal
skeleton
•Rudimentary nasal spine
•Increased gonial angle
•Typical Class III occlusion with marked
proclination of the upper incisors
•Poorly developed philtrum
•Half moon appearance of external nares
inferiorly

EHLERS – DANLOS SYNDROME
(CUTIS HYPERELASTICA)
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Originally described by Van Meekeren in 1682
Further classified by Ehler in 1901 & Danlos in
1908
Ten distinct forms of syndrome have now been
delineated
EDS I, EDS II, EDS III are more common.
Inherited as autosomal dominant
EDS V has X-linked inheritance.
It is a hereditary disorder of connective tissue with
abnormal collagen

•CLINICAL FEATURES
•Hyperelasticity of skin, hyperextensibility of joints and fragility of skin
and blood vessels resulting in excessive bruising as well as defective
healing of skin wounds.
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Auricles are hyper mobile with
tendency towards “lop ears”.
Mitral valve prolapse with or
without tricuspid valve prolapse.
Oral mucosa is of normal color
but excessively fragile and
bruised easily.
Healing of mucosa is slightly
retarded and no remarkable hyper
extensibility of mucosa can be
demonstrated.
Gingival bleeding after brushing
Hyper mobility of TMJ, repeated
dislocations

Accurate diagnosis of a specific syndromes among the 0.7% of
babies born with multiple malformations is a necessary pre
requisite of providing a prognosis and plan of management for
the affected infant, as well as genetic counseling for the
parents.
Until recent years, treatment of dentofacial deformity
concentrated on the dentition, orthodontic treatment was the
accepted approach to these problems. However the situation
has changed with explosive rapidity and new treatment options
involving comprehensive intervention have enhanced the
management of craniofacial syndromes.
When dealing with craniofacial syndromes and the individuals
affected by them it is worthwhile to keep in mind the words of
James Paget
“We ought not to set them aside with idle thoughts or idle
words about "curiosities" or "chances." Not one of them is
without meaning; there is not one that might not become the

REFERENCES
• Oral & maxillofacial pathology, 2nd edi, Neville.
• Text book of oral pathology, 4th edi, Shafer.
• Atlas of “The face in genetic disorder” Richard &
Goodman 2nd edi.
• Syndromology : an updated conceptual overview Int. J.
Oral Maxillofacial
Surg. 1989
• Surgical Correction of Dentofacial Deformities, Bell
Proffit and White

• J.W. Fergnson and RPJ Thomson EJO 7:145

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