Developmental anomalies

Craniofacial anomalies

• Cleft lip & palate: most common, caused by folic acid deficiency
• Craniosynostosis: Crouzon syndrome (brachysynostosis, propoptosis, hypertelorism,
frontal bossing), Apert syndrome (craniosynostosis, syndactyly, midface hypoplasia, cleft palate,
hypertelorism)
• Hemifacial microsomia- one side of face underdeveloped including ear, mouth, mandible. Also called
brachial arch syndrome/Goldenhar syndrome
• Vascular malformation (birthmark):lymphangioma- Sturge Weber Syndrome
(lymphangioma of meninges arachnoid and piamater+ skin along the distribution of CN V); cystic hygroma (neck)

• Hemangioma (birthmark): also called port wine stain, strawberry hemangioma, salmon patch-most
common benign tumor of skin

• Plagiocephaly: Asymmetrical shape of head from repeated pressure

• Stickler syndrome: flattened midface, eye abnormalities, hearing loss, joint problems (hypermobile,
scyphosis, etc.)-ass with Pierre robin (micrognathia, cleft palate, glossoptosis)
• Fetal alcohol syndrome: small head size, smooth philtrum, thin upper lip
 Developmental disturbances of Jaw

• Agnathia (Otocephaly): lethal, absence of mandible, partial absence of maxilla or

mandible is more common, caused by failure of migration of neural crest mesenchyme into
maxillary prominence
• Micrognathia: small maxilla or mandible, ass with PR syndrome
• Macrognathia: abnormally large jaws-pituitary gigantism, Paget’s disease, Leontiasis
osea, Acromegaly
• Facial hemihypertrophy: hyperplasia of any one side of body-macroglossia, ass
with McCune Albright syndrome, Beckwith Wiedemann
Syndrome (macroglossia + organ and body overgrowth), Neurofibromatosis
• Facial hemiatrophy (also called Parry Romberg syndrome):
progressive atrophy of soft tissues of half face that follows nerve V-facial asymmetry (can be
confused with Bell’s palsy), incomplete root formation
 Abnormality of dental arch relations
Classification by Angle in 1899
• Class I: Arches in normal mesio-distal relations (69% population)

• Class II: Mandibular arch distal to maxillary arch

o Division 1: bilaterally distal, protruding maxillary incisors (9%)
o Subdivision: Unilateral, protruding maxillary incisors
o Division 2: bilaterally distal, retruding maxillary incisors (9%)
o Subdivision: Unilateral, retruding maxillary incisors

• Class III: Mandibular arch mesial to maxillary arch

o Division: bilaterally mesial
o Subdivision: unilaterally mesial
 Developmental disturbances of lips and palate

• Congenital lip pits and fistula

• Van der Woude syndrome (Cleft lip syndrome): cleft lip or palate with lower
lip pits, missing teeth; Rx- surgical excision of lip pits for aesthetics
• Cleft lip and palate
• Cheilitis Glandularis (Actinic Cheilitis): chronically progressive enlargement of
lower labial mucosa due to chronic irritation, inflammatory condition with suppuration.
• Cheilitis Granulomatosa (Mesicher Melkerson Rosenthal syndrome):
chronic swelling of lip due to granulomatous inflammation+ facial palsy+ plicated/fissured
tongue. Also ass with Crohn’s disease, sarcoidosis
• Peutz Jegher syndrome: intestinal hamartomous polyps+ mucocutaneous melanotic
macules several parts of the body+ GI bleeding + anemia
 Developmental disturbances of oral mucosa

• Fordyce granules: heterotopic collection of sebaceous glands

• Focal epithelial hyperplasia (Heck’s disease): HPV-13 and 32, primarily
occurs in children, labial, buccal and lingual mucosa involved, mucosa with cobblestone
appearance due to numerous papules and plaques
 Developmental disturbances of Gingiva
• Hereditary gingival fibromatosis: diffuse fibrous overgrowth of gingiva around
eruption of permanent incisors-not painful- no hemorrhage-idiopathic condition
• Retrocuspid papilla: small elevated nodule on lingual mucosa of mandibular cuspid,
can be bilateral, most common in children, normal, no Rx
 Developmental disturbances of Tongue
• Aglossia and macroglossia syndrome
• Macroglossia: ass with Down syndrome, Beckwith Weidmann
syndrome (low blood sugar, umbilical hernia, large size of newborn, red birthmark on
forehead or eyelids), Rx surgical
• Ankylosis: inferior frenulum attaches to the bottom of the tongue, Rx-frenulectomy
• Cleft tongue: lack of merging of lingual swellings, also seen in orofacial digital
syndrome
• Fissured tongue (Scrotal tongue): ass with Melkerson-Rosenthal syndrome
(recurring facial swelling+ bell’s palsy+ fissured tongue), Down syndrome
• Median Rhomboid Glossitis: kissing lesion, no Rx
• Geographic tongue: changing pattern of white line surrounding areas of smooth de-
papillated mucosa, Monro’s abscess (microabscesses), Reiter syndrome (reactive
arthritis)
• Hairy tongue: hypertrophy of filiform papillae, caused by tobacco, poor oral hygiene, HIV, Rx
clean tongue, surgical removal of elongated papilla
• Lingual thyroid
 Developmental disturbances of oral lymphoid tissue
• Reactive lymphoid aggregate
• Lymphoid hamartoma (Castleman’s disease)- enlarged lymph nodes with
systemic symptoms, ass with HPV-8 and HIV
• Epithelioid hemangioma
• Lymphoepithelial cyst: epithelial cyst within lymph node of oral mucosa (palatine and
lingual tonsils)
• Branchial cyst: epithelial cyst in lymph node of neck (lateral swelling)
 Developmental disturbances of salivary gland
• Aplasia : Treacher Collins syndrome (underdevelopment of zygomatic complex, small ears, small
mandible and cleft palate), Lacrimo-auriculo-dental-digital syndrome
• Xerostomia: Zyban (anti-smoking drug), Sjogren’s syndrome (xerostomia+ dry eyes+ rheumatoid
arthritis), caused by depression, sialadenitis, radiotherapy, drug therapy
• Hyperplasia of palatal glands: small localized swelling between hard and soft palate, seen in
gout, menopause, Sjogren’s syndrome, Felty’s syndrome (rheumatoid arthritis+ splenomegaly+
neutropenia), no Rx required but excision required for diagnosis
• Atresia: absence or congenital occlusion of one or more major salivary gland
• Aberrancy: accessory salivary glands found farther from normal location
• Stafne cyst/ static bone cavity: aberrant salivary gland found on lingual surface of mandible in
a deep and well circumscribed depression seen as ovoid radiolucency between (inferior to) mandibular
canal and lower border of mandible in second or 3rd molar region, traumatic bone cyst (simple bone cyst/
idiopathic bone cavity) lies superior to mandibular canal, scalloped around roots, ass with jaw trauma,
found in teenagers, Rx aspirate to diagnose and monitor
• Anterior lingual depression: such depression and radiolucency in anterior region between
mandibular incisors and premolars
 Developmental disturbance in size of teeth
• Microdontia: peg lateral, maxillary lateral incisor and third molar mostly affected-these are
also most common congenitally missing
• Macrodontia: Gigantism, hemihypertrophy of face
 Developmental disturbance in shape of teeth
• Gemination: incomplete division of a single tooth germ-two completely or incompletely separate crown with
single root and root canal
• Fusion: union of two normally separated tooth germs, teeth may have separate or fused root canals
• Concresence: teeth united by cementum only because of traumatic injury or crowding with resorption of
interdental bone
• Dilaceration: trauma when tooth is forming
• Talon cusp: additional cusp that blends with tooth but has deep developmental groove, found on
lingual side of maxillary and mandibular permanent incisors, contains normal enamel, dentin and
pulp chamber, mostly seen in Rubinstein Taybi syndrome (developmental retardation+ broad
thumb+ incomplete descent of testes+ characteristic facial features)
• Dens in dente: permanent max lateral incisor most commonly affected
• Dens evaginatus: accessory cusp or globule of enamel
• Taurodontism: large pulp chamber, short roots, bifurcation just above the apex, mostly affects
molars
• Supernumerary roots
 Developmental disturbance in number of teeth
• Anodontia
• Supernumerary teeth: Gardner syndrome (multiple polyposis in intestine+
impacted supernumerary teeth+ osteomas of bone+ multiple sebaceous cyst + occasional
desmoid tumors)
• Pre-deciduous dentition/neonatal teeth
 Developmental disturbance structure of teeth
• Amelogenesis imperfecta: structural defect of enamel, thin layer of enamel on cusp tips and interproximal area, hypoplastic
(disturbance in maturation of ameloblast), hypocalcified (defect in matrix and mineral deposition), hypomaturation (alteration in
enamel rods), calcification of enamel affected so radiolucency same as dentin, enamel may be completely absent, both dentitions
affected
• Dentinogenesis imperfecta: gray to yellowish brown color of teeth, ‘tulip’ shape of teeth, blue sclera
o Type I: without osteogenesis imperfecta (opalescent dentin)-teeth with bulbous crown, narrow roots, pulp chamber smaller or
obliterated, enamel split from dentin under occlusal stress, caused by deficiency of dentin sialophosphoprotein
o Type II: Brandywine type (shell teeth)-crown wears rapidly after eruption, very large pulp chambers initially which obliterates,
irregular dentinal tubules
o Rx: prevent loss of enamel so cast metal crown in posterior and jacket crown in anterior, both dentitions affected
• Enamel hypoplasia: incomplete or defective formation of enamel matrix caused due to deficiency in Vit A,C,D, trauma,
infection such as measles or scarlet fever, congenital syphilis, fluorosis, mottled enamel, screw-driver shaped anterior teeth,
mulberry molars, Rx cosmetic
• Dentin dysplasia (Rootless teeth): normal enamel, atypical dentin formation with abnormal (chevron) pulpal morphology,
no Rx, not suitable for restoration, affects both the dentitions
o Type I: radicular-more common, teeth appear normal however they exhibit extreme mobility, exfoliate prematurely due to abnormally
short roots, pulp chamber completely obliterated
o Type II: coronal-permanent teeth show abnormally large pulp chamber ‘thistle-tube’ in shape
• Regional odontodysplasia (Ghost teeth): delay or failure in eruption, irregular appearance of teeth due to defective
mineralization, marked reduction in radiodensity give ghost appearance-enamel and dentin are very thin and pulp chamber very
large. Rx: extraction followed by prosthesis
• Dentin hypocalcification: interglobular areas of uncalcified matrix, caused by rickets, parathyroid deficiency, soft dentin
 Disturbances in eruption of teeth
• Premature eruption: natal (teeth erupted at birth) and neonatal teeth
(teeth erupt in first 30 days)
• Eruption sequestrum: tiny irregular bone spicule found on crown of erupting
permanent molar, lost after complete eruption
• Delayed eruption: rickets, cretinism, cleidocranial dysplasia
• Multiple unerupted teeth
• Embedded and impacted teeth
• Ankylosed deciduous teeth (submerged teeth): most common mandibular
second molar, they undergo root resorption and ankylosed with bone
 Fissural cysts of oral region
• Nasopalatine duct cyst: most common non-odontogenic cyst, heart shaped radiolucency in nasopalatine
canal due to cystification of canal remnants, Rx: excision
• Median palatal cyst: epithelium along line of fusion of palatal shelves, well-circumscribed radiolucent
area with sclerotic border near molar and premolar area, palatal swelling, Rx surgical removal with currettage
• Globulomaxillary cyst: any radiolucency between maxillary LI and canine, radiolucency that cause roots of
adjacent teeth to diverge, pulp of teeth positive to vitality test, rarely any clinical manifestation, inverted pear shape
radiolucency, Rx surgically remove
• Median mandibular cyst: midline of mandible, usually asymptomatic
• Nasoalveolar cyst: not found within bone, swelling in mucolabial fold or floor of nose near ala,
superficial erosion of maxilla may happen, Rx excise
• Epstein pearl / Bohn’s nodules /Gingival cyst of newborn: odontogenic cyst found in 80%
infants, cyst along median raphe of palate (Epstein pearl), cyst from palatal gland structures (Bohn’s
nodules-white cyst filled with keratin) scattered over hard and soft palate/ alveolar ridge, no Rx, cyst is
very superficial and ruptures eventually
• Thyroglossal duct cyst: along midline of neck at or below the level of hyoid bone
• Epidermal cyst: Gardner syndrome, basal nevus syndrome, pachyonychia
congenita (thickened nails, blisters on sole)
• Dermoid cyst: doughy consistency