INDIAN DENTAL ACADEMY
Leader in continuing dental education
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.
•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
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
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.
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."
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
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
TYPES OF PROBLEMS
ON NORMAL TISSUE
ORGNZN OF CELLS
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
Ending “ad” is meant to imply more than one defect (as in diad,
So anomalad connotes the initiating anomaly and its derived
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
1) Richard & Goodman classified multiple
malformation disorders as :
a) Chromosomal abnormality
b) Gene abnormality
c) Environmental factor
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
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
5) Syndrome prototype: By Herrmann & Opitz 1974 & Cohen 1982
Dysmetabolic syndrome (Metabolism)
iii) Malformation syndrome (Organ or Feild)
Normal at birth,
Uniform clinical features,
No congenital malformations,
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)
• Involvement of only 1 germ layer
ii) Deformation syndrome (Region)
• Inheritance- dominant or recessive
• Changes in shape of previously normal • eg. Achondroplasia
Lack of movement- mechanical ,
2) Hamartoneoplastic Sydrome
• Hamartomas or neoplasias
• More than 1 germ layer
Commonly affects musculoskeletal
• Commonly dominant
• eg. Peutz Jeghers Syndrome
Graphic illustration of the causes
of human birth defects
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
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
• 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.
•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
• Prominent Buttocks
• Protuberant abdomen
•Short trident hand, fingers being similar in
length, with short proximal and mid phalanges.
•Short femoral neck; incomplete extension of
•The metacarpals and phalanges are
LeFort III osteotomy
•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
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.
•Scaphocephaly (Sagital Suture)
•Trigonocephaly (Metopic suture)
•Turricephaly (Bilateral Coronal
•Frontal Plagiocephaly ( Unilateral Coronal Suture)
•Occipital Plagiocephaly (Unilateral Lambdoid Suture)
•Parallelism ( Frontal Bone/Contralateral Occipital Lobe)
•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.
•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
Short anteroposterior diameter
with high, full forehead and flat
especially of coronal suture.
Fontanels may be large and late
Down-slanting of palpebral
Small nose, .
Lips frequently assume a
trapezoidal cofiguration in the
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.
Delayed and/or ectopic eruption and
shaped incisors. .
Supernumerary teeth have been observed.
Class III malocclusion is usually present, with
anterior open bite or cross bite and unilateral or
bilateral posterior crossbite.
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
Acne vulgaris about forearms common
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
-simultaneous cranial vault and
upper orbital Osteotomies with
reshaping and advancement.
Usually done at 9 to 11 months
of age unless signs of increased
intracranial pressure are identified
earlier in life.
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
Wide range of expressivity
About one third cases arise as a new mutation
•Premature closure, especially of coronal suture,
•Variable cranial form depending on order and rate of
progression of suture closure
• Optic nerve damage
Short upper lip
Hypoplasia of maxilla with
relative mandibular prognathism
Nose may appear beaked because
of midfacial hypoplasia
High arched, short palate
V-shaped maxillary dental arch.
Crowding of the upper teeth.
Class III Malocclusion
Bilateral Atresia of Auditory
• Described by Pfeiffer in 1963 in eight members of one family
•Autosomal dominant inheritance pattern.
• 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.
·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
• Great toe deviated medially
• 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
•Flattening of midface and nasal bridge
•Submucous palatal cleft
•Bony enlargement of joints
•Hip joint Deformity
•Occasional Mental Retardation
Syn. : Marie Sainton Disease, Cleidocranial dysostosis
In 1765 Martin first reported the clavicular findings
In 1897 Marie and Sainton noted the genetic
transmission and coined the name cleidocranial
In 1975 Goodman and co-workers described an
autosomal recessive form of the disease
Autosomal dominant with wide variability in expression,
but usually showing penetrance.
Autosomal Recessive disease is usually more severe
Slight to moderate shortness of stature.
Brachycephaly with bossing of frontal,
parietal, and occipital bones;
Late closure of fontanels and
mineralization of sutures;
Late or incomplete development of
accessory sinuses and mastoid air cells;
Small sphenoid bones.
Midfacial hypoplasia with low nasal
bridge, narrow high-arched palate.
CLAVICLE AND CHEST
•Partial to complete
aplasia of clavicle with
•small thorax with short
A hereditary disease transmitted as an autosomal
It is basically a disease of connective tissue related to a
defective organization of collagen. Here collagen is
An outstanding feature is excessive length of tubular bones
resulting in :
Dolichostenomelia disproportionately long thin
Arachnodactyly spidery fingers.
Shape of face and skull is long and narrow
Hyperextensibility of joints, habitual dislocations,
Kyphosis or scoliosis, flat foot.
Myopia is usually present
complications – aortic
aneurysm and aortic
defects, enlargement of the
High arched palatal vault
is very prevalent and may
be a constant finding.
Odontogenic cysts of
maxilla and mandible
TREACHER COLLINS SYNDROME
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
Behrents, Mcnamara, and Avery pointed out that all major
aspects of MFD are fully expressed by the 15th week of
Current research suggest that the abnormality may occur
early as developmental defects of the neural crest cells
• Open bite
Fish like facial Appearance
• Deafness frequent
• Mental retardation
Zygomatic and orbital reconstruction.
Soft tissue reconstruction
External ear reconstruction.
External auditory canal and middle ear reconstruction
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
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
•Prominent fore head
•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
•Palpebral fissures slant downwards
OTHER CLINICAL FEATURES
•Mild mental retardation
•Bony anomalies, especially of the
•Congenital heart diseases like
VSD and hypoplasia of the lung
•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
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
•Nose often flattened with widely spaced nostrils
PEIRRE ROBIN ANOMALAD
In 1923 Robin reported this condition, In 1975 the term
anomalad was joined
•May be isolated or in association with other syndromes eg.
Stickler syndrome, Fetal Alcohol Syndrome, drug induced
•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
•The primary components are cleft palate
micrognathia and glossoptosis.
•Occasional hydrocephaly or
•U shaped cleft palate
• Mandibular hypoplasia
•Eye anomalies such as congenital
•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
•Down slanting palpebral fissures
•Cup shaped low set ears
•Missing or hypoplastic thumbs
•Abnormal Radius or Ulna
Syn.:- Congenital Facial Diplegia
•Basic defect is unknown but nuclear hypoplasia accounting for
cranial nerve paralysis has been documented
•Both 6th and 7th nerve palsy.
•Bilateral facial paralysis
•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
• Due to non disjunction of the X chromosome during meiosis
• Commonly affects males and the have an extra X chromosome
• Skeletal disproportion
• Mandibular prognathism
• Hypertelorism, Strabismus
• Upward slant of the Palpebral fissure
• Depressed Nasal bridge
• Cleft Palate
• Mental Deficiency
Syn.:- Brittle bones disease
•Van der Hoeve in 1918
•Disturbance of mesodermal tissues especially calcified tissues
•Extreme fragility and porosity of bones with increased
proneness to fracture
•Blue Sclera, D/D Ehler Danlos syndrome, Marfan syndrome
•Triangular facies with craniofacial disproportion
•Ears displaced/ Deafness
•Short stature due to repeated fractures
•Loose ligaments- dislocation of the TMJ
GORLIN AND GOLTZ SYNDROME
(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
•Cutaneous anomalies : Basal
cell carcinoma, other benign
dermal cysts and tumors.
•Palmar pitting, palmar and
plantar keratosis and dermal
Basal Cell Carcinoma
• Dental and osseous lesions :
Odontogenic keratocyst (often
•Bifid ribs, vertebral anomalies,
Eyes Hypertelorism with wide nasal
Neurologic anomalies Mental
retardation, dural calcification,
agenesis of corpus callosum,
Sexual abnormality Hypogonadism
in males, ovarian tumors
Oral findings odontogenic
As they often develop early in life,
deformity and displacement of
developing teeth may occur.
•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
•Beckwith – Weidmann Syndrome
BECKWITH WIEDMANN SYNDROME
•Uncertain mode of inheritance although familial occurrence has
•Anterior open bite
•Depression on posterior rim of ear
•Infra orbital hypoplasia
•Mild mental retardation
•Condition has been ascribed to hormonal imbalance, chromosomal
abnormalities, Localized alteration on intrauterine development,
lymphatic abnormalities vascular abnormalities
•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
•May be associated with Wilm’s tumor of
the kidney and adrenal cortical carcinoma
Syn.:- Parry Romberg Syndrome
• Exact cause is unknown but suggested factors are
1. Trophic malformation of the
cervical sympathetic system
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
•Unilateral facial involvement
•Trigeminal neuralgia or parasthesia
•Atrophy of half of tongue
•Delay in dental eruption on the affected
•Migraine headaches or epilepsy
•Affected skin becomes darkly pigmented
•Loss of facial hair
•Predilection for involvement of left side
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
•Café- au-lait spots
•Neurofibromas of tongue skin
•Skeletal defectswhen tumor is located within bone
•Malignant transformation of lesions in 15%
•Associated congenital defect mental retardation and ocular
Syndromes Associated With Ocular
•Basal Cell Nevus Syndrome
•Fetal Face Syndrome
•Hypertelorism- Hypospadias Syndrome
•Oro facial Digital Syndrome
FETAL FACE SYNDROME
•Syn.:- Robinow Syndrome
•Both autosomal dominant and recessive inheritance
•Facial resemblance to a fetus of 8 weeks
•Short upturned nose
•Triangular mouth with downturned corners
ORO FACIAL DIGITAL SYNDROME
In 1954 Papillon described a syndrome characterized by
congenital anomalies of the face, oral cavity, and digits
Possibly 1 in 250,000
Alopecia or dryness of scalp
Pseudocleft of mid-upper lip
Cleft or defect of hard palate
Malposition of teeth
Hypoplasia of malar bones
Broad nasal root
Absence of lower lateral incisors
Thick fibrous bands (frenula) in
upper and lower mucobuccal
Abnormalities of hair and
Digital anomalies include
Syndromes Associated With Chromosomal
In 1866 Langdon Down first adequately described this
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
Open metopic suture, late closure of
Hypoplastic maxilla and nasal bones
Flattening of nasal bridge, orbital ridges,
Short hard palate
Cleft lip/palate about 3 times frequency in
Protruding fissured tongue with hypertrophy
Dentition delayed, increased periodontal
disease, and reduced dental caries
Oblique palpebral fissures
Spotting of iris
Excessive skin on nape
Delay in skeletal maturation
Short Broad Neck
Hypermobility of Joints.
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 .
•Small oral opening
•Short upper lip
•Cleft lip and palate
• narrow palatal arch
•Short palpebral fissures
•Low set malformed ears
TRISOMY 13 – PATAU SYNDROME
•Trisomy 13 stated account for 15 % of the spontaneous abortions and
there is a substantial tendency for recurrence
•Port wine stain in glabellar area
•Scalp defects in parietoccipital area
•Absent eye brows
•Shallow supraorbital ridges
•Micropthalmos with multiple eye defects
•Cleft lip and palate
•Congenital abnormalities involving heart, kidney, brain and GIT
About 1% of monosomy X female embryos
The incidence of 45, X or Turner syndrome in
newborn females is approximately 1 in 8000 live
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
The phenotype of Turner syndrome is female.
Secondary sexual characteristics do not
develop in 90% of affected girls and hormonal
1. Facies -shows premature
2. Face frequently heart shaped
3. Multiple eye findings
strabismus, blue sclera.
4. Color Blindness
5. Depressed Corners of mouth
6. High arched palate
7. Dental malocclusion
9. Prominent ears
OTHER CLINICAL FINDINGS
Short stature, average adult height 140 cm
Low hairline on posterior neck
Infant often presents with
lymphedema of hands and feet
Short fourth metacarpal bone
in some patients
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
•Fetal Alcohol Syndrome
•Fetal Hydantoin Syndroem
AETIOLOGY :- Oligohydraminos- reduced amniotic fluid
•Prominent skin fold from the inner canthus to the cheek
•Flattened nose with downward turned nasal tip
•Large flattened ears
•Congenital sternomastoid torticollis
•Clefts of lip and palate
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]
Deficiencies of midline tissue
of the neural plate very early in
embryonic development give
rise to a sires of malformation
collectively known as the
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
The result is a spectrum of
facial deformities ranging from
total absence of the nose and
related structures to an intact
FETAL HYDANT01N SYNDROME
The fetal hydantoin syndrome occurs in 5 to 10% of
children born to mothers treated with phenytoins or
GENERAL CLINICAL FEATURES
Umbilical and inguinal hernias,
Coarse profuse scalp hair, hirsutism,
Abnormal palmar crease.
Wide anterior fontanel
Broad, depressed nasal bridge
Short nose with bowed upper lip
Broad alveolar ridge
Cleft lip and palate
Hypoplasia of distal phalanges with
small nails, especially postaxial digits;
Low arch dermal ridge patterning of
Dislocation of hip.
Other Common Syndromes
• Binder Syndrome
• Ehlers Danlos 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
•Failure of development in the premaxillary
area, with associated deformities of the nasal
•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
EHLERS – DANLOS SYNDROME
Originally described by Van Meekeren in 1682
Further classified by Ehler in 1901 & Danlos in
Ten distinct forms of syndrome have now been
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
•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.
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
Healing of mucosa is slightly
retarded and no remarkable hyper
extensibility of mucosa can be
Gingival bleeding after brushing
Hyper mobility of TMJ, repeated
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
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
“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
• 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.
• Surgical Correction of Dentofacial Deformities, Bell
Proffit and White
• J.W. Fergnson and RPJ Thomson EJO 7:145