Congenital Defect On

Maxillofacial Region
Developmental Defects Of the Oral and Maxillofacial Region
Developmental Defect of The Maxillofacial
• Jaw • Tongue
• Micrognathia • Microglossia
• Agnathia • Macroglossia
• Lip • Aglosia
• Cleft Lip • Ankyloglossia
• Microstomia • Lingual Thyroid
• Macrostomia • Fisured Tongue
• Lip Pits & Comisure lip pits • Cleft Tongue
• Double lips • Oral Cavity
• Frenule Attachment • Cleft Palate
• Synachiae • Patent Nasopaltine Duct
Isolated Congenital/Developmental Defect
Isolated Congenital of Jaw
Micrognathia (Fetal Micrognathia)
• Micrognathia is a facial malformation characterized by a small
mandible and receding chin.

Micrognathia
VS
Retrognatia
?
A third-trimester fetus with micrognathia
Note the recessed chin caused by the
small size of the mandible and the
posterior location of the tongue inside the
mouth.
Micrognathia (Fetal Micrognathia)
(A) Surface rendering of fetus at 15 gestational weeks with abnormally
sized chin (IFA = 41◦, NM = 131◦) as part of an underlying syndromal
disorder. (B) Same fetus after termination of the pregnancy, post partum
clinical examination and molecular testing revealed a Cornelia de Lange
syndrome. IFA, inferior facial angle; NM, nasomental angle

(A) Gray scale imaging of a normal-shaped fetal profile with a

regular inferior facial angle (IFA = 71◦) and corresponding
frontal nasomental angle (NM = 137◦) at 22 gestational weeks.
(B) Marked micrognathia (IFA = 29◦, NM = 100◦) in a fetus at
22 weeks with confirmed Pierre-Robin sequence
Micrognathia (Fetal Micrognathia)
• Etiology and associated abnormalities
• Familial
• Genetic disorder or sequence

• The prognosis depends on the final syndromic diagnosis

• Isolated micrognathia is often associated with Pierre Robin sequence with
glossoptosis, and airway obstruction should be anticipated at delivery.
 Airway Compromise
s No
Ye
Prone/Lateral Feeding Outpatient
No
Positioning Compromise Follow-up as needed
Stab
Unstable le Airw Yes
Airway ay
Conservative
• Repeat sleep study Nasogastric feed
Airway Intervention
3 months
• Nasopharyngeal airway
• Intubation tion
• Direct laryngoscopy, p ira
As No Aspiration
bronchoscopy ng, Mild Gerd
i
ow
Sup a ll sk
No Supraglottic ragl i
Obstruction otti Sw R
c Ob red
stru de
ctio r
n so
Tracheostomy Di
Medical Management
• In absence of
Mandibular Distraction GERD
infraglottic obstruction
of central apnea, • After distraction, repeat
consider MRI brain, sleep study, barium
neurology Consultation swallow, pH probe
• Indication of Surgical Management if
mandibular-maxillary discrepancy grater than
8-10 mm
• Tracheostomy is the definitive treatment of
subglottic obstruction (Complication 19-49%
and related mortality as 2% to 8,5%)
• Distraction Osteogenesis

Curvilinear mandibular distractor and

placement.
Agnatia (otocephaly)
• Agnatia (otocephaly) is a rare malformation characterized by the
association of agnathia (agenesis of mandible) or mandibular
hypoplasia, melotia (anteromedial malposition of ears), microstomia
(small mouth), aglossia or microglossia (absent or rudimentary
tongue)
• This anomaly of the ventral portion of first brachial arch is a
consequence of failure of migration of neural crest cells from hind
brain
Agnatia (otocephaly)
• Otocephaly can be an isolated malformation or associated with other
anomalies. The severe first and second arch defects [are responsible
for this malformation
• Its incidence is less than 1 in 70,000 births
• The syndrome complex of otocephaly is divided into four types:
• 1) Isolated agnathia
• 2) Agnathia with holoprosencephaly
• 3) Agnathia with situs inversus and visceral anomalies
• 4) Agnathia, holoprosencephaly, situs inversus and other visceral anomalies
Agnatia (otocephaly)
Other associated anomalies with otocephaly are neural tube defects,
cephalocele, dysgenesis of corpus colossus, atresis of third ventricle,
midline proboscis , renal ectopia vertebral and rib abnormalities,
tracheoesophageal fistula, cardiac anomalies, vertebral anomalies and
adrenal hypoplasia
Agnatia (otocephaly)
• Otocephaly is usually incompatible with life, so it is important to
diagnose on routine antenatal radiological checkup when the
mandible cannot be visualized and fetal ears are noted to be
abnormally placed. First trimester screening with demonstration of
fetal profile for facial anomalies and evidence of polyhydramnios with
use of 3D ultrasound will contribute in future.
Isolated Congenital of Tongue
Macroglossia
• Macroglosia is a relatively condition characterized by an abnormally
large tongue in the oral cavity. It can be congenital or acquired defect
• Pseudo macroglossia  The tongue may be normal in size but appears large
relative to anatomic interrelationship
• Habitual posturing tongue
• Hypertrophied tonsil and adenoid tissue displacing the tongue forward
• Low palatal vault decreasing the oral cavity volume
• Transverse vertical or anteroposterior deficiency of the maxillary or mandibular arches
that decreases the oral cavity volume
• Severe mandibular deficiency
Macroglossia
• True macroglossia characterized by
hypertrophy with hyperplasia of
glottic muscles or abnormal tissue
hypertrophy.
Macroglossia
Congenital Macroglossia
• Idiopathic muscle hypertrophy (Over development of the tongue
musculature)
• Lysosomal storage disease:
• Hurler/Hynter/MaroteauxLamy Syndromes
• Down syndrome
• Beckwith’s hypoglycemic syndrome
• Multiple endocrine neoplasia syndrome
• Lingual thyroid nodule
• Gargoylism
• Trisomy 22
• Neonatal diabetes melitus
Macroglossia
Acquired (secondary Macroglossia)
• Tumor in the tongue
• Lymphangioma
• Neurofibromatosis
• Plasmacytoma
• Infiltrative disease
• Amyloidosis
• Sarcoidosis
• Systemic conditions
• Uremia
• Iatrogenic Macrolossia
Macroglossia
Acquired (secondary Macroglossia)
• Traumatic condition
• Surgery • Hemorrhage
• Tongue Biting • Intubation injury
• Radiation injury
• Endocrine disorder
• Acromegaly • Cretinism
• Hypothyroidism • Diabetes
• Myxedema
• Obstructive lesion of the tongue
Macroglossia
Acquired (secondary Macroglossia)
• Inflammatory condition
• Syphilis • Ludwig’s angina
• Pemphigus • Tuberculosis
• Small pox • Scurvy
• Actnomycosis • typhoid
• Pellagra
• Cystic lesion
• Dermoid Cyst
• Epidermoid Cyst
Macroglossia
• Clinical features of macroglossia
• Displacement of teeth and malocclusion (continuous pressure or thrust)
• Disturbance of speech and food intake
• dysphonia
• Cosmetic deformities
• Scalloping indentation of lateral margin
• Obstruction sleep apnea (intermittent cessation of respiration during sleep)

• Radiologic features of macroglossia

• Radiographic features include increased gonial angle and mandibular plane,
disproportionate mandibular growth, and dento-alveolar protrusion)
Macroglossia
• Treatment
• Removal primary cause
• Surgical reduction or trimming / Glossectomy
Macroglossia

The neurovascular anatomy of tongue

Macroglossia
• Reduction Glossectomy techniques:
• Peripheral glossectomy
• Median line glossectomy
• Wedge glossectomy,
• key-hole glossectomy
• W-shaped glossectomy
• ect
Incision pattern for Anterior 2/3rd Macroglossia. (a)
Pichler, (b) Harris, Blair, and Hendrick, (c) Pichler–
Edgerton, Central Reduction, (d) Butlin and Ensign, (e)
Egyedi and Obwegeser, (f) Kole, Davalbhakta and
Lamberty, (g and h) Austerman and Machtens, (i)
Kruchinsky, (j) Mixter, (k) Harda and Enomoto, (l) Morgan
et al. and Kacker et al.
Incision pattern for Anterior 2/3rd Macroglossia. (a)
Modifi ed key-hole, (b) Pless, (c) Modifi cation of
Mixter, (d) Rheinwald, (e) Kole, (f) Gupta, (g)
Deplange, (h) Dingman and Grab, (i) Magee, (j)
Egyedi and Obwegeser, (k) Stellate- Anterior wedge,
(l) Butlin-Handley
Macroglosia
Macroglosia
• Rehabilitation consisted essentially of the following:
• correction of the tongue position at rest;
• rehabilitation of swallowing with two objectives:
• breaking the “glossolabial” reflex
• achieving efficient back and forth movement of the tongue;
• reading exercises; speech therapy aims to standardize lingual support during
the pronunciation of different phonemes: the palatal “L, N, D, T”, sibilant “S”,
the postalveolar sibilant “CH, J”;
• rehabilitation of tongue strength by alternating between a strong contraction
of the tongue by tapering the tip “rat tongue” and a sprawl “cat tongue”.
Microglossia
• Rare congenital anomaly in which only tiny or rudimentary tongue
develops in the oral cavity.
• Can be isolated case
• Most cases association with other congenital anomalies
• oromandibular limb hypogenesis syndrome or hypoglossia-hypodactilia syndrome
• Patient with microglossia don’t have severe speech difficulties or
difficulty in taking food.
• Tongue  Mandibular growth size of the mandibular arch and length
 severe maloclusion
Microglosia
Hypoglosia/Aglossia
• Aglossia is an extremely rare congenital defect characterized
complete absence of the tongue. This condition is usually associated
with other serious developmental defects in the body (aglossia
adactylies syndrome/oromandibular limb hypogenesis
syndrome(OLHS)) which characterized by absence or severe
hypoplasia of tongue with absence of digits
Hypoglosia/Aglossia
• The incidence of OLHS is very low (1/175,000 live births) and most
cases are actually hypoglossia rather than true aglossia
Ankyloglossia
• Is a congenital development condition characterized by fixation of the
tongue to the floor of the mouth causing restricted tongue mobility.
• Complete ankyloglossia is a n extremely rare condition, however
partial ankyloglossia (tongue tie) is relatively common developmental
anomaly
Ankyloglossia
• Prevalence rate range from 0,04-6,8 %
• Male : female 2,6:1
• Affected individual:
• Difficulty of speech (L,R,T,D,B,TH,SH,Z)
• Difficulty for breast feeding on infant
• Frenal attachment may induce some periodontal disease
• Cofactor development with malocclusion class II
• Related syndrome:
• Ankyloglossum spurious syndrome
• Vander woudes syndrome
• Fraser's syndrome
• Rainbow’s syndrome
• Orofacial digital syndrome (oromandibular limb syndrome)
Ankyloglossia

• Normal range of free tongue is greater than

16 mm.
• Kotlow's assessment of ankyloglossia
• Class I: Mild ankyloglossia: 12-16 mm
• Class II: Moderate ankyloglossia: 8-11 mm
• Class III: Severe ankyloglossia: 3-7 mm
• Class IV: Complete ankyloglossia: < 3 mm. 
 Normal Movement of Tongue

Protrude Sweep to Retrude

Upper & Lower Lip

No Cleft No straining No blanch the tissues

No Diastema within
mandibular Incisor
Ankyloglossia
• Treatment  release tongue tie (frenotomy/frenulotomy/frenulectomy/frenectomy)

Lingual frenectomy:
a) A severe tongue tie with the insertion of a short
frenum into the tongue tip.
b) A stay suture stabilizes the tongue and a haemostat is
placed from the insertion of the frenum to a point in
the floor of the mouth superior to the submandibular
duct orifice.
c) The frenum is cut using the haemostat as a guide.
d,e)Closure of the wound with a 4-0 resorbable suture.
f) Haemostasis and final closure.
Ectopic Thyroid
• Primitive Thyroid gland which does not descend normally  ectopic thyroid.
Usually an incidental finding in a child younger than 10 years of age

May occur anywhere along the migratory pathway of the

begin at the foramen cecum
Common locations include:
● Lingual thyroid  90% of case
● Sublingual thyroid
● Thyroglossal duct remnant
● Anterior mediastinum
● Prelaryngeal
● Intralingual
● Intratracheal
Ectopic Thyroid
• As the most frequent form of thyroid dysgenesis 
• Prevalence of 1 per 100,000–300,000 persons (48–61% of the cases)
• (75%–80% of cases occur in females) 
• It may occur both with and without a normally located thyroid gland.
• The mechanisms underlying thyroid morphogenesis have not been
clearly elucidated.
• Transcription factors seem to play a key role in thyroid organogenesis, e.g.
TITF1/NKX2-1, which is responsible for the thyroid-specific expression of 
thyroglobulin (Tg) and thyroperoxidase, and the PAX8, HHEX, and FOXE1.
Ectopic Thyroid
Failure of fusion on tissue/
organ related pharyngeal
pouch/arch
Ectopic Thyroid
Ectopic Thyroid
Clinical feature
• Symptoms most often develop during puberty, adolescence,
pregnancy, or menopause. Mostly asymptomatic, nodular lesions to
large masses (sometime vascularized) that can block the airway.
• The most common clinical symptoms are dysphagia, dysphonia, and
dyspnoea
• 75% of patients with infantile hypothyroidism have some ectopic
thyroid tissue.
Ectopic Thyroid
Diagnostic
• Diagnosis is best established by thyroid scan using iodine isotopes or
technetium-99m. Computed tomography (CT) and magnetic
resonance imaging (MRI) can be helpful in delineating the size and
extent of the lesion
• Thyroid function tests assessing T3, T4, TSH and Tg serum levels
Ectopic Thyroid
Treatment
• No treatment except periodic follow-up is required for patients with
asymptomatic lingual thyroids. In symptomatic patients, suppressive
therapy with supplemental thyroid hormone often can reduce the size
of the lesion
• If hormone therapy does not eliminate symptoms, surgical removal or
ablation with radioactive iodine-131 can be performed. If the mass is
surgically excised, autotransplantation to another body site can be
attempted to maintain functional thyroid tissue and to prevent
hypothyroidism
Fissured Tongue/ Lingua Plicata/Scrotal
Tongue
• Fissured tongue is a relatively common condition that is characterized by the
presence of numerous grooves, or fissures, on the dorsal tongue surface
• Heredity appears to play a significant role. Evidence indicates that the condition
may be either a polygenic trait or an autosomal dominant trait with incomplete
penetrance.
• Aging or local environmental factors also may contribute to its development.
Fissured Tongue/ Lingua Plicata/Scrotal
Tongue
• On Syndromic case, it can been seen on Melkersson-Rosenthal syndrome
• Prevalence
• 10% to 20% in the general population, with no predilection race
• M:F = 2;1
Clinical Feature
• Patients with fissured tongue exhibit multiple grooves, or furrows, on the
surface of the tongue, ranging from 2 to 6 mm in depth
• Food or debris entrapped in the grooves can be found
• Mostly Asymptomatic, but some people feel burning sensation
Fissured Tongue/ Lingua Plicata/Scrotal
Tongue
Diagnostic
• Clinical examination
Treatment
• As a benign condition, and no specifi ctreatment is indicated. The
patient should be encouraged to brush the tongue, because food or
debris entrapped in the grooves may act as a source of irritation.
Cleft Tongue/Bifid tongue/Glossoschissis
• Is a congenital defect in which there is a complete or partial fissure or
cleft of the tongue running from the tip backwards.
• In bifurcation of the tongue tip, the degree of splitting varies from
patient to patient:
• Bifid  only the tip of the tongue is split
• Partial  deep grove or fissure on dorsum of the tongue on the site normally
occupied by medial lingual raphe
• Complete  totally bisected into two halve
• Differentiation must be made between true and false bifid tingue
Cleft Tongue/Bifid tongue/Glossoschissis
• Pathophysiology
• The tongue, anterior to the circum vallatae papillae, is formed from two
lateral tubercle derived from the first brachial arch that sude in the midline
between 4th and 5th embryonal weeks. Failure of fusion of the tubercles cause
cleft
• Most case related syndromes:
• oro-facial-digity syndrome
• Tessier cleft especially median cleft lip
Cleft Tongue/Bifid tongue/Glossoschissis
• Prevalenece
• 5,3 per 1000 or one affected per 189 school aged in Mexican dhildren
• M:F = 2:1
• Clinical Feature:
• Beside the cleft/bifid it has hyperplastic frenula that transverse the
mucobuccal fold
• The cleft may be bifid, trifid, or tetrafid
Patent Nasopalatine Duct
• The nasopalatine duct (NPD) is a bilateral,
epithelium-lined oronasal communication
formed in the early fetal period. It connects
the oral cavity with the nasal cavity (Vomero
Nasal organ (VNO)) within the primary
palatal process.
Patent Nasopalatine Duct
Patent Nasopalatine Duct
Patent Nasopalatine Duct
Patent Nasopalatine Duct
Patent Nasopalatine Duct
• Prevalence
• Treatment:
• Chemical Ablation
• Excision patent NPD
Patent Nasopalatine Duct
Patent Nasopalatine Duct
Isolated Congenital of Lips
Microstomia
• Microstomia is the term used to describe a
congenital or acquired reduction in the size of
the oral aperture that is severe enough to
compromise cosmesis, nutrition, and quality
of life.
• Few cases of congenital microstomia have
been reported as most microstomia cases are
due to burn injuries (electric, thermal, or
chemical burn)
Microstomia
• Freeman-Sheldon syndrome (FSS), also termed distal arthrogryposis
type 2A (DA2A), craniocarpotarsal dysplasia (or dystrophy), Cranio-
carpo-tarsal syndrome, Windmill-Vane-Hand syndrome, or Whistling-
face syndrome, was originally described by Freeman and Sheldon in
1938
• Caused by mutations in the MYH3 gene.
Microstomia
• Usually patient have normal intelligent
state, occasional reports of association with
mental retardation, especially in cases with
combined important structural anomalies
of the central nervous system (1/3 case had
been report)
• Abnormalities of the eyes
hypertelorism, deep-set eyes, outside
corners of the eyes that point downward
(down-slanting palpebral fissures), a
narrowing of the eye opening, ptosis and
strabismus.
Microstomia
• Joint deformities and contractures.
These contractures lead to permanently bent
fingers and toes (camptodactyly), a hand
deformity in which all of the fingers are angled
outward toward the fifth finger (ulnar deviation,
also called “windmill vane hand”), and inward- and
downward-turning feet (clubfoot). Affected
individuals may also have a spine that curves to
the side (scoliosis).
• Anomalies oropharynx and upper airways 
Pneumonitis and bronchitis often follow seemingly
mild upper respiratory tract infections, some
patient have small lung lead to desaturation state
Macrostomia
• Congenital macrostomia / transverse, horizontal, or lateral facial
cleft.
• It corresponds to cleft No. 7 of the classification of Tessier

Bilaterall Macrostomia
Macrostomia
• Prevalence
• 1.5% of all clefts, being frequently associated with craniofacial microsomia
(syndromes of the first and/or second branchial arches)
• 1:50,000 to 1:175,000
• This malformation is not limited to the labial commissure, also
affecting its muscular portion. Sometimes, deeper facial structures
are involved, and complete facial division may occur.
Macrostomia

Unilateral Macrostomia
Commissuroplasty
• Treatment
Local Microstomia can be repair with surgical Commissuroplasty

A. Small triangle of skin may or may not be excised

lateral to distorted commissure.
B. Horizontal incision made through blunted commissure.
C. Mucosa advanced superiorly, inferiorly, and laterally to
restore vermilion of lips and commissure.
Commissuroplasty A. Triangle of skin marked for excision to point of new
commissure. Vermilion of blunted commissure marked to
create flap pedicled on upper lip
B. Skin excised. Broken line indicates planned incision through
muscle of blunted commissure to extend commissure
laterally and to create inferiorly based mucosal flap
C. Vermilion flap transposed to reconstruct vermilion of
superior aspect of commissure. Mucosal flap advanced to
reconstruct inferior vermilion of commissure
D. Flap suture in place
Commissuroplasty
Commissuroplasty
Commissuroplasty
 Commissuroplasty

A: Schematic drawing: Transfer of the distance between points A and B, and marking of points A' and B' for the
construction of a new commissure. The line in blue shows the location to be incised at the cutaneous mucosal
transition; B: Schematic drawing: Intraoral inversion of mucosal flaps; C: Schematic drawing: Dissection, repositioning,
and suture of the orbicularis oris muscle; D: Schematic drawing - Reorientation of transverse scar in the direction of the
nasolabial groove through a z-plasty.
Commissuroplasty
Lip Pits & Comisure lip pits
• Lip pits are malformations of lips, often following hereditary pattern,
possibly a dominant characteristic and may be associated with other
congenital defects.
• Lip pits can be of three types according to their location:
a. Commissural
b. median upper
c. median lower.
• 80% affected
individual with
Van Der Woude Syndrome
Lip Pits & Comisure lip pits
• Prevalence rates of Comisure lip pits in adults range from 0.3% to
21.1%

Tailor MN and Joshi MU. 2018. Prevalence of commissural

lip pits in population of central Gujarat: A hospital-based
study J Oral Maxillofac Pathol.22(1): 144
Lip Pits & Comisure lip pits
Lip Pits & Comisure lip pits
Lip Pits & Comisure lip pits

Histopathological examination showed

fragment of mucosa coated by parakeratinized
stratified squamous epithelium. Lamina propria
consists of dense connective tissue, exhibiting
moderate mononuclear inflammatory infiltrate
predominantly lymphocytic near the epithelium.
In the sub mucosa region mature adipocytes
were observed 
Double Lips
• Double lip is an infrequent oral anomaly that may be acquired or
congenital. More commonly affecting the upper lip,1 it often takes the
form of 2 masses
• Can be congenital or aquired
• Syndromic case: Ascher’s syndrome
Double Lips
• Congenital double lip results from thickening and hypertrophy of the
inner portion of the lip (pars villosa), which is separated from the
outer portion (pars glabra) by a persistent horizontal sulcus that
develops during the second or third month of gestation
• Clinically, double lip needs to be differentiated from other types of
chronic enlargements of the lip. Macrocheilia may be neoplastic in
nature, circulatory, or inflammatory. All these conditions, however,
are associated with a uniformly enlarged lip without a transverse
furrow dividing the vermilion portion of the lip
Double Lips
• Congenital double lip results from thickening and hypertrophy of the
inner portion of the lip (pars villosa), which is separated from the
outer portion (pars glabra) by a persistent horizontal sulcus that
develops during the second or third month of gestation
Double Lips
Double Lips
Double Lips
Double Lips
Frenule Attachment
• The maxillary labial frenum, also called as frenulum labii superioris, is
a mucous membrane fold that connects the upper lip to the alveolar
mucosa, gingiva, and the underlying periosteum.

Frenum types based on attachment site. (a) Mucosal frenal

attachment; (b) Gingival frenal attachment; (c) Papillary frenal
attachment; (d) Papillary penetrating frenal attachment
(Plecek, 1974)
Frenule Attachment

Frenum types based on morphology. (a) Simple

frenum; (b) Simple frenum with appendix. (c)
Simple frenum with nodule; (d) Frenum with
nichae; (e) Bifid frenum; (f) Double frenum with
appendix; (g) Persistent tectolabial band; (h) Trifid
frenum; (i) Trifid frenum with nodule
Frenulum Attachment
• Histologically,
• loose connective tissue fibers
• elastic fibers
• mucous glands in the subcutaneous tissue
• either side of the central artery and vein.
• Few striated muscle fibers from lip on either side of the midline
Frenulum Attachment
• The Problem associated with high frenulum attachment:
• Lost of papilla
• Recession
• Persistent midline diastema
• Difficulty in brushing
• Ill fitting denture
Frenulum Attachment
The frenum is characterized as pathogenic if:
• An aberrant frenal attachment is present, which causes a midline diastema.
• A flattened papilla with the frenum closely attached to the gingival margin is
present, which causes a gingival recession and a hindrance in maintaining the
oral hygiene.
• An aberrant frenum with an inadequately attached gingiva and a shallow
vestibule is seen.
Treatment:
• frenectomy 
• frenotomy 
Frenulum Attachment
• Frenectomy:
• Conventional (Classical) frenectomy
• Miller's technique
• V-Y Plasty
• Z Plasty
Frenectomy
• Classical Frenectomy introduce by archer (1961) and Kruger (1964)
Frenectomy
• Classical Frenectomy introduce by archer (1961) and Kruger (1964)
Frenectomy
• Miller’s Technique Miller PD in 1985.
Frenectomy
• Miller’s Technique Miller PD in 1985.
Frenectomy
• Z-Plasty
Frenectomy
• Z-Plasty
Frenectomy
• V-Y Plasty used for lengthening the localized area, like the broad frena
in the premolar-molar area.
Frenectomy
• V-Y Plasty used for lengthening the localized area, like the broad frena
in the premolar-molar area.
Frenectomy
• V-Y Plasty used for lengthening the localized area, like the broad frena
in the premolar-molar area.
Synachiae
• Oral Synechiae are rare congenital anomalies found in several
syndromes that have as a component a cleft palate deformity. This
anomaly is usually recognized at birth secondary to airway and
nutrition compromise
Synachiae
• This synechiae most commonly arise between the upper and lower
alveolar ridges (Syngnathism) or between the tongue and margins of
the palate or maxilla (glossopalatal ankylosis), loverlips, floor of the
mouth or oropharyngeal isthmus
• They may consist of membranes or bands of epithel supported by
connective tissue muscle or bone
• CAUSES:
• Persistance of buccopharyngeal membrane (BPM) but embriologyc evidence
is lacking
Synachiae
Synachiae
Synachiae
• Syndromic related:
• Orofacial digity syndrome
• Cleft palate-lateral synechiae syndrome
• Fryns syndrome
• Demarque-Van Der Woude Syndrome
Synachiae
• Treatment
• Emergency  Airway, nutrition
• Airway: nasotracheal intubation with fiber optic, tracheostomy
• Surgical: window can be made by transected the membrane or band
• Nutrition: enteral tube, nasogastric tube, (keep 45 degree head elevation to reduce
chances of vomiting) if fail use enterogastric tube
• Surgical Elective for removal membrane or band can be delayed for 2-3 weeks
until the nutrition and weight gain achieved
Syndrome
Craniosynostosis Syndrome
• Saethre-Chotzen Syndrome
• Pfeiffer Syndrome
• Apert Syndrome
• Crouzon Syndrome
• Carpenter Syndrome
• FGFR3- Associated Coronal Synostosis Syndrome
• Curry-Jones Syndrome
• Craniofrontonasal Dysplasia
• Greig Cephalopolysyndactyly Syndrome
• Antley-Bixler Syndrome
• Baller-Gerold Syndrome
Facial Defects As Major Feature
• Robin Sequence
• Van der Woude Syndrome
• Treacher Collins Syndrome
Van Der Woude Syndrome
• Describe in 1954 by Van der Woude
• (LIP PIT–CLEFT LIP SYNDROME), Lower Lip Pit(s), with or without Cleft
Lip, with or without Missing Second Premolars

Lower lip pits (80%); hypodontia, missing

central and lateral incisors, canines, or bicus
pids; cleft lip with or without cleft palate, cleft
palate alone, submucous cleft palate, cleft
uvula.
Van Der Woude Syndrome
• Surgical removal of the fistulas, which represent small accessory
salivary glands, is recommended because they may produce a watery
mucoid discharge that can be embarrassing for the individual.
• Missing permanent teeth are common.
Van Der Woude Syndrome
• Autosomal dominant inheritance pattern.
• Mutations in interferon regulatory factor 6 (IRF6), which is mapped to
chromosome 1q32-41, account for 68% of cases.
• Microdeletions of IRF6 account for a very small percentage of cases.
• Mutations in IRF6 also lead to the popliteal pterygium syndrome.
Robin Sequence
• It is a Sequence
• Initiate by hypoplasia of the mandible before 9 weeks
intra uterine
• Tongue become posteriorly (Glossoptosis)
• Imparing closure of posterior palatal shelves
• Rounded shape palatal cleft
Robin Sequence
• In 1926, Pierre Robin published the case of an infant with the
complete syndrome
• Until 1974, the triad was known as Pierre Robin syndrome
• Micrognathia, Glossoptosis, Cleft Soft Palate; Primary Defect— Early
Mandibular Hypoplasia
Robin Sequence
• Pierre Robin sequence occurs in 1/8500 to 1/14,000 births
• Can be seen in isolation or in conjunction with a syndromic
presentation.
• Support for a genetic basis is evidenced by a high incidence of twins
with PRS. Moreover, family members of PRS infants have a higher
incidence of cleft lip and palate.
• Cleft palate is associated with deletions on 2q and 4p, and duplications
on 3p, 3q, 7q, 78q, 10 p, 14q, 16p, and 22q.
• Micrognathia is associated with deletions in 4p, 4q, 6q, and 11q, and
duplications on 10q and 18q
Robin Sequence
• 40% of PRS was isolated and 60% were associated with another
syndrome, most commonly Stickler and velocardiofacial syndromes.
• Stickler syndrome is associated with mutations in COL2A1, COL9A1,
COL11A1, and COL11A2,
• Velocardiofacial syndrome arises from a microdeletion of
chromosome 22q11.2.
• Nonsyndromic PRS is associated with SOX9 and KCNJ2 dysregulation,
both on chromosome 17
Robin Sequence
• Mortality rates as high as 30% have been reported.
Significant airway obstruction may develop over the
first 2 months of life.
• 40% of cases, the Robin sequence occurs in otherwise
normal individuals, in whom the prognosis is very
good if they survive the early period of respiratory
obstruction
Robin Sequence
Robin Sequence
Treacher Collins Syndrome
• (MANDIBULOFACIAL DYSOSTOSIS, FRANCESCHETTI-KLEIN SYNDROME)
• Malar Hypoplasia with Downslanting Palpebral Fissures, Defect of Lower Lid,
Malformation of External Ear
• Thomson reported the first case in 1846, the syndrome has been associated
with Treacher Collins, who described two cases in 1900. In the 1940s,
Franceschetti and Klein made extensive reports on this condition and called it
mandibulo- facial dysostosis.

• Sindrom Treacher Collins adalah penyakit genetik langka yang

menyebabkan berbagai malformasi kongenital dengan
manifestasi klinis terutama di bagian kraniofasial.
• disebut juga sindrom Franceschetti–Zwahlen–Klein
• kelainan pada kraniofasial, yang disebabkan oleh disgenesis
jaringan di arkus brankial satu dan dua
• Disgenesis  suatu perkembangan organ yang abnormal pada
masa embriologi
• Kelainan pada sindrom ini memiliki karakteristik hipoplasia pada
jaringan lunak kraniomaksilofasial dan hipoplasia pada arkus
brankial satu dan dua
suatu disostosis mandibulofasial  Disostosis merupakan
kelainan pada perkembangan tulang, terutama pada tahap
osifikasi tulang.
Umumnya tatalaksana awal sindrom treacher collins
meliputi proteksi patensi jalan nafas, fungsional mata,
serta perkembangan auditorik dan neurologis.Selanjutnya
tatalaksana kasus sindrom treacher collins mengikuti
prinsip bedah kraniofasial.

Salah satu ciri khas sindrom treacher collins adalah

dismorfisme pada bola mata disertai hipoplasia tulang
zigoma dan bentuk ellipsoid.
Sebagai akibat dari hipoplasia pada zygoma dan
pembentukan struktur dinding lateral bola mata yang
kurang baik, bola mata tampak lebih menonjol
Treacher Collins Syndrome
• Antimongoloid slanting palpebral fissures 89%
• Malar. Hypoplasia, with or without clef in zygomatic bone 81%
• Mandibular hypoplasia 78%
• Lower lid coloboma 69%
• partial to total absence of lower eyelashes 53%
• Malformation of auricles 77%
• External ear canal defect 36%
• Conductive deafness 40%
• Visual loss 37%
• Cleft palate 28%
• Incompetent soft palate 32%
• Projection of scalp hair onto lateral cheek 26%
Treacher Collins Syndrome
• Prevalence estimated to range between 1 in 40,000 to 1 in 70,000 of
live births
• Growth of craniofacial structures derived from the first and second
pharyngeal arch, groove, and pouch is diminished symmetrically and
bilaterally. The condition is recognizable at birth and can also be
diagnosed prenatally based on ultrasonography findings
Treacher Collins Syndrome
• This disorder has an autosomal dominant inheri- tance pattern.
Mutations in the gene TCOF1, which maps to 5q32-q33.1, are
responsible for approxi- mately 93% of cases. TCOF1 encodes a
protein named treacle, which has a major role in ribosome
biogenesis. Two other genes, POLR1D and POLR1C, account for about
9% of cases. There is wide vari- ability in expression.
Treacher Collins Syndrome

Treacher Collins syndrome. A–C, An adolescent boy. Note the

hair extending onto the lateral cheek, downslanting palpebral
fissures, malar hypoplasia, malformed ears, and micrognathia.
D, An affected father and his affected daughter. E and F, Note
evidence of a cleft of the zygomatic bone and the coloboma of
both upper and lower lids. (A–F, Courtesy Dr. Lynne M. Bird,
Children’s Hospital, San Diego.)
Treacher Collins Syndrome

The Treacher Collins syndrome zygoma can be variable in

morphology and volume. Classification of this deformity is
based on the presence of all (type I), some (type II), or none
(type III) of the normal components and buttresses.
Treacher Collins Syndrome
• OCCASIONAL ABNORMALITIES
• Pharyngeal hypoplasia, coloboma of the upper lid, dacryostenosis,
microphthalmia, cataract, strabis- mus, ptosis, macrostomia,
microstomia, salivary gland pathology and dysfunction, choanal
atresia, blind fistulas and skin tags between auricle and angle of the
mouth, absence of the parotid gland, cervical spine anomalies,
congenital heart defect, tracheoesophageal fistula, anal atresia,
rectovaginal fistula, male pseudohermaphroditism, cryptorchi- dism.
Intellectual disability has been reported in only 5% of the cases.
Thank You