• Defective fusion medial nasal process &
maxillary process =cleft lip (CL).
• failure of the palatal shelves to fuse =cleft
palate (CP).
• CL and CP 45%; 30% isolated CP; 25%
isolated CL.
• Isolated cleft palate separate entity from
CL + CP.

Clinical and Radiographic Features
• one of most common major
congenital defects
• In whites, 1 of every 700 to 1000
births.
•more common in males than
females.

-more serious in females

-More Asian Px and less black px

• considerable range in severity.
• Defect may involve hard and soft palate or
soft palate alone.
• most minimal manifestation bifid uvula.

-1/80 white px

 

Treatment and Prognosis
• Treatment = multidisciplinary.
• Primary lip closure accomplished during the
first few months of life, followed later by
repair of the palate.

• Small mucosal invaginations at corners of
mouth vermilion border.
• ?? autosomal dominant.
• unilateral or bilateral blind fistulas.
• Not associated with facial or palatal clefts
• Associated with pre‐auricular sinuses
• No treatment necessary.

• Rare congenital invaginations midline lower
lip.
• Bilateral symmetric fistulas either side of
midline of vermilion.
• Autosomal dominant in combination with
cleft lip and/or cleft palate( syndromal)
• May be excised for cosmetics.
• Van Der Woude syndrome
• Popliteal pterygium syndrome

-Kabuki syndrome

• Rare redundant fold of mucosal tissue
• Often congenital can be acquired
• Upper lip much more often
• Ascher syndrome triad of features:
1.name of disease
2. Blepharochalasis (drooping eyelids), edema and atrophy of upper eyelid
3.Nontoxic thyroid enlargement ‐50% cases
• Severe cases, surgical excision

• Ectopic sebaceous glands in oral mucosa.
• Multiple yellow or yellow‐white papules
most common in buccal mucosa.
• Clinical appearance is characteristic and
biopsy is not necessary.

-benign

-almost normal in black

• Unknown cause, dev disorder, uncommon
• Hypoplastic tongue – aglossia
• Spectrum of oromandibular – limb
hypogenesis syndrome
– Hypodactylia‐Absence of digits
– Hypomelia‐ hypoplasia of all/part of a limb
• CP, Intraoral bands, situs inversus
• Hypoplastic mandible, Missing lower incisors

• Enlarged tongue, uncommon condition
• Important to rule out other causes, congenital
malformations and acquired diseases
• Most frequent causes: vascular malformations and
muscular hypertrophy, lymphogena
• Pressure of tongue against teeth, mandible: crenated
tongue, open bite, mandibular prognathism
• Treatment depends on cause and severity of condition

• Vascular malformations
(lymphangioma/hemangioma)
• Hemihypertrophy
• Cretinism
• Beckwith‐Wiedemann syndrome (fisher oresentation of tongue

• Down’s syndrome

• Drooling, dysphonia (difficulty in speech), sometimes dysphagia & dysponea
• Abnormalities
– Omphaloceles‐ gut protrusion through umblicus (ant. wall)
– Visceromegaly
– Gigantism
– Neonatel hypoglycemia

• Wilm’s tumor, hepatoblastoma,adrenal carcinoma
• Nevus flammeus‐ forehead & eyelids
• Linear indentations – earlobes
• Max hypoplasia ( causing‐ relative mand pragnathism
• Diffuse smooth tongue enlargement

• Edentulous pts. (muscle hypertrophy)
• Amyloidosis: nodular of tongue
• Myxedema
• Acromegaly
• Angioedema
• Carcinoma/other tumors: NF will show neuro tissues, etc

• Developmental anomaly short, thick lingual
frenum.
• Results only in minor speech defects,
• May cause gingival recession/ defects
• Treatment is often unnecessary
• Frenectomies may be performed if there
are periodontal or functional problems.

• Thyroid gland begins as epithelial
proliferation in floor of pharyngeal gut.
• Thyroid bud normally descends into neck
anterior to trachea and larynx.
• When primitive gland does not descend
normally, ectopic thyroid tissue may be
found between foramen cecum and
epiglottis.

• Clinically evident or symptomatic lingual
thyroids are uncommon
• Four times more frequent in females, due
to hormonal influences.
• 70% ectopic gland is only thyroid tissue.

• Most common clinical symptoms are
dysphagia, dysphonia, and dyspnea

-difficulty in swallow, speech, and breathing

• 33% associated hypothyroidism
• 75% infantile hypothyroidism have ectopic
thyroid tissue

• Diagnosis by thyroid scan using iodine
isotopes.
• Biopsy avoided, risk of hemorrhage and
mass may represent only functioning
thyroid tissue.
• No treatment except periodic follow‐up
with asymptomatic

• Thyroid supplements to suppress
• Malignancy develops in about 1% of
identified cases – in males ( 30 yrs
prophylactic removal)

-see more common in female, but more cancer dx in males

• Common (2‐5%); often hereditary, may also
be degenerative process.
• Tongue surface grooves, furrows, 2 ‐ 6 mm
in depth.
• Usually asymptomatic.
• Patients should brush the tongue; food or
debris in grooves may irritate.
• Strong association with geographic tongue.

• Fissured tongue
• Facial nerve paralysis
• Cheilitis granulomatosis (granulomatous
inflammation of the lips)

• Marked (elongation) filiform papillae
• Many affected people are heavy smokers.
• Other possible associated factors include:
– antibiotic therapy
– poor oral hygiene
– general debilitation
– radiation therapy
– oxidizing mouthwashes or antacids
– overgrowth of fungal or bacterial organisms

• Occurs in the midline region just anterior to
circumvallate papillae.
• Elongated papillae usually brown, yellow, or
black
• Result of growth of pigment‐producing
bacteria or staining from tobacco and food.
• Eliminate predisposing factors: tobacco,
antibiotics, or mouthwashes. Periodic
scraping or brushing is recommended.

• Dilated tortuous vein commonly seen in
older adults.
• sublingual most common type, two
thirds of people 60+
• multiple bluish‐purple, elevated or papular
blebs on the ventral‐lateral border of the
tongue.

• Solitary occur on lips and buccal
mucosa, first noticed after thrombosed.
• thrombosed are firm, nontender, bluishpurple
nodule
• Sublingual does not treatment.
• Solitary of the lip/buccal
mucosa needs biopsy to rule out other pathologic
conditions.

-pronouced vein

-if on lip, remove for aesthetic

-outward growth of bone

• Buccal:bilateral row bony hard nodules facial
aspect of maxillary/mandibular alveolar ridge.
• Palatal:similar develop from lingual/palatal
aspect maxillary tuberosities.
• Solitary:response to local irritation. Develop
from bone beneath free gingival grafts.
• Subpontic:(subpontic osseous hyperplasia),
develop crestal bone beneath pontic posterior mandibular ridge.

-response to local irritation.

-Develop from bone beneath free gingival grafts.

-graft simulate periosteum to generate more bone

develop crestal bone beneath pontic posterior mandibular bridge.

• Localized bony protuberances arise from
cortical plate.
• Benign growths frequently affect jaws.

• bilateral and symmetrical.
• Most distinctive, biopsy unnecessary.
• Surgical removal required for some dental
prosthesis.

-px tend to traumatize it and don't heal up (avascular part of bone), so now need to surgically remove it

• Common exostosis midline hard palate
• Cause multifactorial, both genetic &
environmental
• Bony mass midline suture hard palate
• Most measure <2 cm
• Asymptomatic, overlying mucosa may
become ulcerated secondary to trauma.
• Prevalence 20 ‐ 35%, F: M ,2:1.

-more female

• Common exostosis develops along lingual
aspect of mandible.
• Multifactorial etiology ‐ i.e. genetic and
environmental.
• Bilateral involvement >90% of cases ‐
premolar region.

-more male

-need to remodel tray for impression to avoid trauma to torus

• Prevalence 5 ‐ 40%, Male predominance
• Prevalence correlated with both bruxism
and number of teeth present
• Ulcerates from brushing trauma, foods
• Surgical removal in edentulous patients to
accommodate dentures

-asians and eskemos in Md

• Focal concavity in lingual cortical bone of
mandible
• Adults, rare in kids
• Contains normal salivary gland tissue
• Asymptomatic radiolucency below
mandibular canal in posterior mandible.
-reminant developmental of salivary origin

• Cyst ‐pathologic cavity (often fluid‐filled)
lined by epithelium
• Inflammatory, developmental, odontogenic
• Exact pathogenesis is still uncertain.
• Once cysts develop slowly increase in size,
due to elevated hydrostatic luminal
pressure.

• Neonates

• Diff. from gingival cysts of newborn
• Quite common 65 to 85% of neonates
• Cysts are 1‐ to 3‐mm white keratin filled,
epithelial lined papules, 2‐6 in no.
• Most often along the midline near the
junction of the hard and soft palates
• No treatment is required

• Rare developmental cyst, soft tissue lesion
• F>M, 3:1, 4th/5th decades, 10% bilateral
• Upper lip, lateral to midline
• May elevate‐skin of the ‘ala’, mucosa of nasal
vestibule & obliterates the max. mucolabial
fold

• Nasal obstruction
• Pain when secondarily infected
• Spontaneous rupture‐OC/nose
• Surgical excision/ endoscopic marsupialization

• Previously ‘fissural’ origin
• Present ‐ odontogenic origin
• Between max lateral incisor & cuspid
• R/F‐well circumscribed unilocular lucent,
inverted pear shaped
• Surgical excision

• Most common non‐odontogenic cyst (1% )
• Arises from remnants of nasopalatine duct
• 4th /6th decades, M>F
• Nasopalatine duct: embryologic structure connects oral and nasal cavities
• Most common presenting symptoms include swelling of anterior palate, drainage, pain.

• Many lesions asymptomatic and discovered on routine radiograph.
• Well‐circumscribed ("inverted pear") radiolucency in or near midline of anterior maxilla between and apical to central incisors / Heart shape

• May be difficult to distinguish small from large incisive foramen.
• Diameter of 6 mm is upper limit of normal incisive
foramen (most cysts range from 1.0 ‐ 2.5 cm diameter)
• Soft tissue‐cyst of the incisive papilla

• Epithelial lining consisting of stratified
squamous or pseudostratified columnar
epithelium.
• Fibrous connective tissue wall exhibits
numerous prominent nerves and blood
vessels (structures normally seen within
the incisive canal).
• Treated by surgical enucleation
• Recurrence rare
• Malignant transformation reported

• Common cyst arise from hair follicle. Term
sebaceous cyst mistakenly used as
synonym.
• Most common in acne‐prone areas

• Unusual before puberty unless associated
with Gardner Syndrome
• Appear as subcutaneous swellings
• Conservative excision/enucleation
• Younger‐face, older‐back
• M>F

• Uncommon developmental cyst contains
adnexal (on the skin) structures in cyst wall.
• Benign cystic form of teratoma

• Size, few mm‐12cms
• Children & young adults
• 15% congenital
• May retain ‘pitting’ after being squeezed

• Simpler in structure than complex
teratomas.
• Epidermoid < dermoid < teratoid cyst
• Most commonly occur in midline of floor of
mouth.
• Above the geniohyoid sublingual swelling
displaces tongue toward roof of mouth.

• Below geniohyoid produce submental
swelling "double chin" appearance.
• Slow‐growing, painless, doughy or rubbery
• Most often seen in young adults
• Cyst wall contains skin appendages
• Treated by surgical removal.

• Remnants of thyroglossal duct may persist
and give rise to cysts
• Develop in midline anywhere from foramen
cecum to suprasternal notch
• 50% before 20 years old,1st/2nd decade
• Suprahyoid‐submental
• Infrahyoid ‐ 60 to 80% cases

• Painless, fluctuant, movable swelling
• Base of tongue – laryngeal obs
• Fistulous tract to skin on rupture
• If attached (hyoid ,tongue), moves vertically
during swallowing or tongue protrusion
• Intralingual ‐ rare
• Lateral in thyroid cartilage area

• Columnar or stratified squamous
epithelium
• Thyroid tissue may occur in cyst wall
• Recurrence rate <10% with aggressive
surgery
• Rarely thyroid carcinoma develops, 1%
• Papillary thyroid ca – rare metastasis

• Cystic changes in parotid Cyst cc a ges pa ot d gland epithelium
entrapped in cervical lymph nodes during
embryonic life
• Upper lateral neck ‐ anterior border of
sternocleidomastoid muscle, 2/3rd on left
& 1/3rd on right, few bilateral
• Affects young adults of 20 ‐40.

• Soft , fluctuant mass, 1‐10cms
• Sinus/fistula with mucoid discharge
• AIDS‐related bilateral parotid
lymphoepithelial cysts

• 90% of cysts lined by stratified squamous
epithelium.
• Wall of the cyst contains lymphoid tissue,
often with germinal centers
• Treated by surgical removal; lesion almost
never recurs.

• (Un)common lesion develops within oral
lymphoid tissue, Waldeyers ring
• Microscopically similar to cervical cyst but
much smaller(<1 cm)
• White or yellow
• Young adults; most frequent in floor of the
mouth(50%)

• Cystic cavity lined by stratified squamous
epithelium 
• Most striking feature lymphoid tissue in
cyst wall.
• Treated by surgical excision and generally
doesn't recur.

-One whole side of the body (complex
hyperplasia) may be affected, or the
enlargement may be limited to a single digit
(simple hyperplasia) or limb (segment
hyperplasia). If the enlargement is confined
to one side of the face, the term _____ may
apply.
• Asymmetry often is noted at birth.

• Enlargement ‐ accentuated especially at
puberty
• Disproportionate growth continues
• Permanent asymmetry
• 20% ‐ affected are mentally retarded
• Abdominal tumors
• Unilateral macroglossia featuring prominent
tongue papillae is common

• Crowns of the teeth – larger
(permanent cuspids premolars, first molars)
• Premature development of teeth
• Precocious eruption
• Malocclusion with open bite is not unusual

• Rare group of syndromes characterized by:
– Craniosynostosis‐ premature closing of the cranial
sutures
– 1 of every 65,000 births
– Inherited as an autosomal dominant trait
– FGFR2 on 10q26
– Autosomal dominant
– > Paternal age

• Exhibits a wide variability in expression
• Cranial malformations
• Brachycephaly (short head)
• Scaphocephaly (boat‐shaped head)
• Trigonocephaly (triangle‐shaped head)
• "cloverleaf" skull – kleeblatt‐schadel deformity

• The orbits are shallow, resulting in
characteristic ocular proptosis
• Visual impairment/blindness
• Headaches ‐> intra‐cranial pressure
• Hearing deficits
• Marked mental deficiency is rarely seen.

• The maxilla is underdeveloped, resulting in
mid‐face hypoplasia
• Pseudo‐clefts
• Skull R/F‐ digital marking (beaten metal
appearance)

• Rare genetic disorder, 1in 65000 births
• Craniofacial & limb abnormalities
• FGFR2 1 or 2 point mutation on Ch 10q26
• Autosomal dominant/sporadic
• > paternal age
• M=F

• Craniosynostosis‐ prematurely fused cranial
sutures (Acrobrachycephaly –Tower skull)
• "cloverleaf" skull – kleeblatt‐schadel deformity
• Retruded (or sunken) mid‐face
• Flattened occiput
• Fused fingers – syndactalia ( 2nd/3rd/4th digit)
• Fused phalange in radiograph
• Synonychia
• Fused toes

• Brachycephaly (short wide head)
• Acrocephaly (high prominent forehead)
• Flattened back of skull
• Varying degrees of mental deficiency
• Prominent eyes ( hypertelorism) ‐ may be
spaced widely apart or slant downward
• Strabismus
• Prominent mandible ‐ prognathic

• Depressed nasal bridge and small anteverted
nose
• Down‐turned corners of the mouth
• Low set ears ( conductive hearing loss)
• Cleft palate
• Shallow orbits ‐ proptosis significant
• Slanting lateral palpebral fissures

• Severe acne in teens
• Hydrocephalus
• Dental abnormalities:
– malposed teeth
– crowding
– Delayed eruption
– V – shaped high‐arched narrow palate
– thickened ridges
– Class III malocc

• Internal organ abnormalities including heart
defects and abnormalities of the trachea,
uterus, and brain Skull x‐ray ‐ confirm
premature closure
• The combination of the craniofacial problems
and the fused fingers and toes differentiates it
from other similar syndromes

• Genetic tests

TREATMENT
• Team approach
• Surgical – multiple
• Potential surgeries to improve the upper
airway, address severe eye problems, or
correct dental issues

• Rare syndrome characterized by defects of structures derived from
– 1st & 2nd branchial arches
• Occurs in 1 of every 25,000‐50,000 live births
• Inherited as an autosomal dominant trait
• Variable expressivity
• Severity >>>> across generations
• 60% ‐new mutations
• > paternal age
• TCOF 1/ treacle gene on 5q32‐q33.1

• Characteristic facies
– Hypoplastic zygomas
– Narrow face
– Depressed cheeks
– Downward‐slanting palpebral fissures
• 75% ‐ coloboma
• 50% no lashes medial to coloboma
• Tongue‐shaped sideburns

• Ear anomalies
• Deformed / misplaced pinnae
• Extra ear tags
• Ossicle defects / absence of external auditory
canal ‐ conductive hearing loss
• Hypoplastic mandible ‐ retruded chin
• Downturned mouth
• 15% ‐ lateral facial clefting, causing
macrostomia

• R/F :

– hypoplastic condylar /coronoid process
– Prominent antegonial notch
• Cleft palate ‐ 1/3rd cases
• Parotid gland, absent / hypolplastic
• Choanal atresia
• Narrow larynx, trachea

• Infants :

– Respiratory ( tongue malposition – death) / feeding difficulties
– Hypoplasia‐ naso/oro/hyhpopharynx

TREATMENT
• Mild forms – no treatment
• Severe cases – cosmetic surgery
• Combined orthognathic surgery/orthodontic
therapy
• Multiple surgeries to improve
– Eyes, Zygomas, Jaws, Ears