Drg. L. Cinthia H, Sp.

Ort
Anomali Irregularity atau different from
normal

Anomali Craniofacial :
Bermacam-macam kelompok deformitas yang
terjadi pada tulang-tulang kepala dan wajah,
merupakan kelainan bawaan ( congenital /
present at birth )
 Variasi :

- Mild / Ringan
- Moderate / Sedang
Lethal / Operasi
- Severe / Berat
Etiologi :
1. Intrinsik
- Kelainan Genetik / Kromosom

2. Ekstrinsik / Lingkungan
- Trauma mekanik
- Infeksi
- Obat-obatan
- Defisiensi asam folat
- Hormonal
- Usia Ibu
- Radiasi
- Gizi / Malnutrisi
- Lain-lain : sosial, hipoksia, hipotermia, hipertermia
 Congenital Anomalies Present at birth or during
intrauterine life

Hereditary Developmental Inherited by either of the parents /

Anomalies transmitted through genes

Aquired Anomalies During intrauterine due to some

pathological environtment / - genes

Hamartomatosus Excessive, focal overgrowth of

Anomalies mature, normal cells & tissues

Idiopathic Anomalies
Unknown cause
 Orofacial Congenital
Anomali

Jaws Lips and Gingiva Tongue

Palate

- Agnatia - Cleft Lips - Gingiva - Aglossia

- Micrognatia and Palate Fibromatosis - Microglossia
- Macrognatia - Exostosis - Macroglossia
- Ankyloglossia
- FissureTongue
- Hairy Tongue
 Rare condition
Autosomal recessive
Lethal Anomaly
Hypoplasia or absense of jawbone,
involving either maxilla, mandible or
even both jaws
 Failure of migration of neural crest
mesenchyme into the maxillary
prominence

4 th 5th weeks of gestation ( post-

conception)
AGNATIA
 Small jaws affect either maxilla or mandible
/ smaller than normal
Autosomal recessive
Congenital Congenital mandibular micrognatia
Aquired Trauma or infection, ankylosis TMJ
Involving cardiac malformation and clubfeet
Pierre-Robbin Syndrome, Trisomy 13,18, Turner
Syndrome, Hemifacial Microsomia
Tipe tipe Micrognatia

A. Pseudomicrognatia
- Normal size jawbone appears to look
smaller compared with opposing jaw
B. True Micrognatia
- Jawbone is actually smaller than normal
it can be either congenital or an aquired
Ciri Ciri Klinis :

Crowding and malocclusion

Retruded chin with small face
Difficulty in feeding
Difficulty in proper articulation and
speech
MICROGNATIA
 Abnormaly large jaw
Maxilla, mandible or both
Common Causes :
- Paget,s Disease
- Pituitary Gigantism
- Acromegaly
Surgical Correction
A. Pseudomacrognatia
- Normal size jawbone may look larger
when the opposing jaw is smaller than
normal in size
B. True Macrognatia
- Jawbone is abnormally large in size in
true sense
 Mandibular Protrusion
Gummy Smile
Excessive Condylar Growth
Prominent Chin
Ramus of Mandible forms a less steep angle
with body of mandible
Macrognatia Maxilla Excess
Macrognatia Mandible Excess
Kelainan bawaan berupa celah yang
bisa terjadi pada bibir, gusi dan
langit langit, bisa tersendiri atau
bersama sama yang bergradasi
dari simple sampai complete
 MOST COMMON TYPES OF CRANIOFACIAL
ANOMALIES
INCIDENCE 1 : 800 1000 BIRTH ( ASIAN 1.5 X
HIGHER THAN WHITE )
85 % LABIOSCHIZIS, 2 % LABIO-GNATO-
PALATOSCHIZIS,
13 % PALATOSHIZIS
MALES > FEMALES, ISOLATED CL 5 : 1, CL+CP 2 : 1 )
ISOLATED CL > FEMALE
80% CL UNILATERAL ( 70% LEFT SIDE ), 20 %
BILATERAL
Normal Palatal Development

7 weeks IU
8 weeks IU
10 weeks IU
 PATHOGENESIS
Disturbance at any stage of palate development :
- Defective palatal shelf growth
- Delayed / failed shelf elevation
- Defective shelf fusion
- Failure of medial edge epithelium cell death
- Post fusion rupture
- Failure of mesenchymal consolidation and differentiation
Isolated Cleft :
Interaction between individuals genes and environmental factors
Syndromic Cleft :
More Common : Pierre-Robin, Apert, Treacher Collins, HayWell
Syndrome
 KLASIFIKASI
Veau Classification
Kernahan and Stark
Symbolic Classification
International
Confederation of Plastic
and Reconstructive
Surgery Classification
Group I (A) : Defects on the soft palate only
Group II (B) : Defects involving the hard palate
and soft palate
Group III (C) : Defects involving the soft palate to
the alveolus, usually involving the lip
Group IV (D) : Complete bilateral cleft
Areas 1 and 4 : Lip
Areas 2 and 5 : Alvbeolus
Areas 3 and 6 : Palate between alveolus and the
incisive foramen
Areas 7 and 8 : Hard Palate
Area 9 : Soft Palate
Group I : Defects of the lip or alveolus
Group II : Cleft of the secondary palate ( hard
palate, soft palate, or both )
Group III : Any Combination of Cleft involving the
primary and secondary palates
1,5 : Nasal Floor
2,6 : Lip
3,7 : Alveolus
4,8 : Hard Palate ant to I foramen
9,10 : Hard Palate post to I foramen
11 : Soft palate
12 : Congenital Velopharingeal
Incompetence without
obvious Cleft
13 : Protrusion of Premaxilla
A. Cleft Palate
B. Left sided Unilateral Complete
Cleft Lip and Palate
C. Bilateral Complete Cleft
Lip and Palate
D. Bilateral Right Incomplete, Left Complete
Cleft Lip and Primary Palate
Depending on the elemental characteristics of the
embryology anatomy and physiology of the cleft
defect, the varieties clefts of lips and palate may be
tabulated into 4 general categories :

1. Those involving the lip and alveolus

2. Those involving the lip and palate
3. Those in which the palate alone is affected
4. Congenital insufficiency of the palate
Variety of Cleft
Unilateral Cleft
Lip and Alveolar
Bilateral Cleft Lip and Alveolar
 Unilateral Cleft hard and
soft palate

Bilateral Cleft hard and

soft palate
Microform Cleft Soft
Palate
 Key points of cleft lip and palate
Important developmental anomaly occurring due to failure of
fusion between various embryonic processes associated with
development of normal lips and palate
Genetic abnormality is the single most important cause
More common in maxillary than mandibular arch
Maxillary cleft lip along with palate occurs due to failure of fusion
between median nasal, lateral nasal and maxillary processes in
varying combination and extents
Two palatal halves may also fall to fuse
Cleft lip and palate may be unilateral or bilateral, complete or
incomplete types
Clinically, difficulties in food intake, speech, nasal regurgitation of
milk in children, malocclusion and poor look.
Timely surgical intervention is required
 Benign, localized, hyperplastic bony overgrowth
arising outwards from the cortex of maxilla and
mandible

Cause is unclear genetic or environment

Exostosis :

- Maxilla : Torus palatinus

- Mandibula : Torus mandibular

 Exostosis of normal compact bone in the midline of
the vault of palate
Inherited
Female > Male
Early adulthood
Classification :
1. Flat torus extending to both sides of midpalatine
raphe
2. Spindle torus presents with midline ridge
3. Nodular torus manifest as multiple protuberances
that fused forming grooves between them
Flat Torus Spindle Torus

Nodular Torus
 Exostosis of dense bone on the lingual aspect of
mandible, area premolars above mylohyoid ridge
Inherited
Female > Male
Early adulthood
< Torus Palatinus
Single or multiple bilateral lobulated or nodular
 Exostosis /
Torus Mandibularis
 Rare, benign, dense, diffuse, smooth, noninflamatory
hyperplasia of gingiva

Hereditary, autosomal dominant

Generalized or localized

Young children >>

Multinodular enlargements especially in the interdental

papilla regions, plaque

Hyperplastic is firm, painless, coral pink color

Sometimes cover the entire crown of erupted teeth

Associated with epilepsy, mental retardation, Cowdens

Syndrome, Laband Syndrome
 GF MILD

GF SEVERE
 Complete absence of the tongue

Extremely rare congenital anomaly

Mostly associated with cleft palate and

dental agenesia

Aglossia-adactylia Syndrome
 AGLOSSIA

AGLOSSIA-
ADACTYLIA
SYNDROME
 Rare congenital anomaly
Tiny or rudimentary tongue
Isolated or association with Oromandibular Limb
Hypogenesis Syndrome or Hypoglossia-
Hypodactylia Syndrome
Partial anodontia and smaller mandibular arch
No difficulty in speech and taking food ( small
children have problem oin sucking milk )
MICROGLOSSIA
 Relatively common in children
Abnormally large tongue, disturb speech and eat
Congenital or aquired /secondary
Infant noisy breathing, drooling, difficult in eating
Pressure on tongue againts teeth crenated lateral
border to the tongue, openbite and mandibular
prognatism, obstruction sleep apnea
Type :
1. Pseudo / Relative Macroglossia
2. Apparent Macroglossia
 Etiology

Aquired Inflamatory/ Systemic/

Congenital Metabolic/ Medical Trauma
Endocrine Infectious Condition

- Hemangioma - Hypotyrodsm - Syphilis - Hypertrophy - Surgery

- Lymphangioma - Cretinism - Ludwig Angina - Neurofbromtis - Hemorrhage
- DownSyndrm - Diabetes - Amuboic dsentry - Iatrogenic - Direct Trauma
- LingualTyroid - Pneumonia - Intubation Inj
- LabandSyndrm - Thypoid
- Trisomy 22 - Candidiasis
- Rheumatic Fvr
- Tuberculosis
1. Pseudo / Relative Macroglossia

Normal sized tongue could be sitted in these conditions :

1. Habitual posturing of the tongue
2. Enlarge tonsils or adenoid
3. Low palate
4. Tranverse, vertical, anterior / posterior deficiency in
maxillary or mandibular arches
5. Severe mandibular retrognatism, neoplasm displacing
of the tongue, hypotonia of the tongue
2. Apparent Macroglossia

Tongue appears abnormally large due to poor

muscular control of the tongue although there
is no real increase in the bulk of the tongue
tissue

Seen in Cretinism and Happy Puppet

Syndrome
Macroglossia
 Fixation of the tongue to the floor of the mouth
restricted tongue mobility, short & thick lingual
frenulum
Complete ankylosis <<, Partial tongue tie
Prevalence 0.04 6.8 %
Male > Female
Speech disorders ( L, R, T, D, N etc )
Infants : difficult in sucking breast milk
Adult : difficult in swallowing and maintaining OH,
kissing, eating ice cream cone
Dental occ deformity, openbite, mandibular prognatsm
Ankyloglossia
 Scrotal Tongue and Lingual Implicata
Numerus shallow or deep grooves (fissures) on the
dorsal and lateral surface of the tongue in oblique
direction
Average depth individual fissure 6 mm
Prevalence 7%
Male > Female
Collection food debris and microorganism
Etiology :

Exact etiology is unknown

Genetic defect ( Polygenic or autosomal )
Vitamin deficiency
Trauma
Normal variation of tongue architecture
Fissured Tongue