Developmental disorders

Assoc. Professor Jan Laco, MD, PhD

 Developmental disorders
• 1. Teeth

• 2. Jaws

• 3. Clefts

• 4. Oral soft tissue

 1. Developmental disorders
- teeth
• 1a. Abnormalities of size and form

• 1b. Abnormalities of number

• 1c. Defects of structure

• 1d. Disorders of eruption

 1a. Abnormalities of size
and form
• microdontia …teeth < normal
– permanent teeth
– absolute x relative
– generalized x single (upper I2, M3)

• macrodontia …teeth > normal

– absolute x relative
– generalized x single
 1a. Abnormalities of size
and form
• gemination (schizodontia, twinning)
– incomplete division of tooth germ
– 2 separated crowns on single root, upper I1
• fusion (synodontia)
• concrescence
– fusion after development of roots (injury)
– teeth united by cementum
 1a. Abnormalities of size
and form
• dilaceration
– angulation at crown-root junction (injury)
– difficult extraction
• talon cusp
– lingual or palatal aspect of permanent teeth
• dens invaginatus (dens in dente)
– invagination of enamel into pulp chamber
– upper I2, bilateral, caries
 1a. Abnormalities of size
and form
• taurodontism (bull tooth)
– wide pulp chamber
– molars
• enamel pearl
– displaced ameloblasts below amelocemental
junction
– mm nodule, upper M
 1. Developmental disorders
- teeth
• 1a. Abnormalities of size and form

• 1b. Abnormalities of number

• 1c. Defects of structure

• 1d. Disorders of eruption

 1b. Abnormalities of number
• Isolated hypodontia – common
– hereditary
– M3 + P2 + I2
– M3 + P2: NO effect
– I2: false eruption of C to I1

• Anodontia – very rare

 1b. Abnormalities of number
• Anhidrotic ectodermal dysplasia
– X-linked inheritance
– hypodontia + hypotrichosis + anhidrosis
– failure of development of alveolar process

• Down´ s syndrome
– no M3 (90% patients)
 1b. Abnormalities of number
• Hyperdontia (additional teeth) – common
– supernumerary: conical
• incisor + molar region + midline (mesiodens)
– supplemental: normal
• excessive growth of l. dentalis
• M4

• Cleidocranial dysplasia
• Gardner´s syndrome
 1. Developmental disorders
- teeth
• 1a. Abnormalities of size and form

• 1b. Abnormalities of number

• 1c. Defects of structure

• 1d. Disorders of eruption

 1c. Defects of structure
• deciduous teeth
– neonatal jaudice  yellow
– congenital porphyria  red
– Tetracycline

• permanent teeth
– periapical infection of d. predeccesor – Turner
tooth
– systemic diseases
 1c. Defects of structure
– systemic diseases
• genetic
– amelogenesis imperfecta
– dentinogenesis imperfecta
– Ehlers-Danlos syndrome, Gardner´s syndrome

• infective – congenital syphilis

• metabolic – childhood infections, rickets
• drugs – tetracycline, cytotoxic chemotherapy
• fluorosis
 1c. Defects of structure
– systemic diseases
• Amelogenesis imperfecta
– all teeth + whole enamel x dentine normal

– Hereditary enamel hypoplasia

• AD inheritance
• defect of matrix formation – pits, grooves, hard
– Hereditary enamel hypocalcification
• AD + AR inheritance
• normal matrix poorly calcified – soft, chalky
 1c. Defects of structure
– systemic diseases
• Chronological hypoplasia
– transient impairment of enamel formation in case of
severe illness
– severe fever, gastroenteritis, measles in the past
– horizontál bands of pits, grooves, defects
• Molar-incisor hypomineralisation
– all M1 a I1 a I2
– enamel - hard surface, but soft beneath
– yellow brown discoloration, ↑ caries
 1c. Defects of structure
– systemic diseases
• Dentinogenesis imperfecta
– defect of collagen/sialoprotein, AD
– normal teeth shape
– brownish, translucent enamel  chip away
– obliteration of pulp
– dentine - few tubules + abnormal matrix + incomplete
calcification
– “shell teeth“ – thin mantle of dentine covers abnormal
dentine, few odontoblasts, no roots
Dentinal dysplasia
– very short and conical roots, teeth are lost early
Regional odontodysplasia (ghost teeth (radiolucent on RTG))
– hypoplastic / hypomineralised enamel + thin dentine
 1c. Defects of structure
– systemic diseases
• Ehlers - Danlos syndrome (floppy joints)
– collagen disorder
– hypermobile joints + loose skin
– small teeth + short roots + pulp stones
• Gardner´s syndrome
– multiple osteomas (jaws) + skin tumors +
colonic polyps  malignant change
– impacted teeth, supernumerary teeth
 1c. Defects of structure
– systemic diseases
• Congenital syphilis – Hutchinson (1858)
– later fetal infection
– dental follicle infection by T. pallidum
– chronic inflammation  fibrosis of tooth sac 
compression of developing tooth  distortion of
ameloblasts
– permanent teeth
• upper I1 (Hutchinson´s incisors) – barrel-shaped,
fissure on incisal edge
• M1 (Moon´s molars) – dome-shaped,
pitted occlusal surface (“mulbery molar“)
 1c. Defects of structure
– systemic diseases
• Tetracycline (TTC)
– taken up calcifying tissues
– yellow fluorescence (UV light)
– during teeth development – fetus x infancy
– dentine
– bright yellow  brown  grey
– permanent teeth
– Avoid TTC under 12 years
 1c. Defects of structure
– systemic diseases
• Fluorosis (mottled enamel)
–  fluoride in drinking water, India
– during dental development
– paper-white patches  brown
– permanent teeth
– hydroxyapatite  calcium fluoroapatite
– patches of incomplete calcification with high organic
and water content
– enamel matrix usualy normal
 1. Developmental disorders
- teeth
• 1a. Abnormalities of size and form

• 1b. Abnormalities of number

• 1c. Defects of structure

• 1d. Disorders of eruption

 1d. Disorders of eruption
• deciduous teeth: 6th – 30th month
– at birth: natal teeth
– 1st month: neonatal teeth (lower I1)
• permanent teeth: 6th – 13th y (M3: 18th – 30th y)
– loss of space, retention of a dec. predecessor
– cretenism, rickets
 Developmental disorders
• 1. Teeth

• 2. Jaws

• 3. Clefts

• 4. Oral soft tissue

 2. Developmental disorders
- jaws
• micrognathia x macrognathia
• hereditary prognathism
• craniofacial anomalies
• cherubism
• Gardner´s syndrome
• osteogenesis imperfecta
 Developmental disorders
• 1. Teeth

• 2. Jaws

• 3. Clefts

• 4. Oral soft tissue

 3. Developmental disorders
- clefts
• NOT clefts  non-fusion !!!
• ? ethiology - genetic component (40%)
• cleft lip -  males, inc. 1/1000
• cleft palate -  females, inc. 1/2000
• lip : lip + palate : palate …22% : 58% : 20%
• + Down´s syndrome (1 in 200 pts.)
• van der Woude syndrome (AD, IRF6 gene)
– clefts + pits on lower lips + hypodontia
 3. Developmental disorders
- clefts
• cleft lip – cheiloschisis
– lateral: unilateral (left side) x bilateral
– medial
• alveolar ridge cleft – gnathoschisis
• hard palate cleft – palatoschisis
• soft palate cleft - uranoschisis
• uvula cleft - staphyloschisis
 3. Developmental disorders
- clefts
• complications
– malformation or absence of teeth in defect
– + other congenital defects
– feeding disorder
– breathing disorder
– middle ear infections
– speech defect
– cosmetic defect
 Developmental disorders
• 1. Teeth

• 2. Jaws

• 3. Clefts

• 4. Oral soft tissue

 4. Developmental disorders
– oral soft tissues
• 4a. oral mucosa

• 4b. gingiva and periodontium

• 4c. tongue
 4a. Developmental disorders
– oral mucosa
• white sponge nevus – AD inheritance
– white, soft, thickened area of oral mucosa
– Mi: acantosis + hyperkeratosis + intracellular edema

• Fordyce´s granules
– heterotopic sebaceous glands
– 80% adults
– soft yellowish spots or papules
– symmetrical, buccal location
 4b. Developmental disorders
– gingiva and periodontium
• hereditary gingival fibromatosis
– AD inheritance
– grossly enlarged gingivae - preceding of teeth
eruption
– Mi: collagen bundles
– gingivectomy after puberty

• Ehlers-Danlos syndrome
 4c. Developmental disorders
– tongue
• macroglossia
– muscle hypertrophy
– congenital hemangioma or lymphangioma
– Down´s syndrome
– lingual thyroid
• incidence 10%
• nodule, foramen caecum
• cleft tongue
• ankyloglossia
 4c. Tongue
Lingua plicata
• cerebelli-, cerebriformis, fissurata, gyrata, scrotalis
• fissured dorsal aspect of tongue
• children x adults
• asymptomatic x pain during eating, hygiene
• + geographical tongue
• + Cowden syndrome
• + Melkersson-Rosenthal syndrome
 4c. Jazyk
Lingua geographica
• geographical tongue, glossitis migrans
• + lingua plicata; ± psoriasis
• asymptomatic x pain during eating
• irregular smooth red area  healing (hours / days) 
another red area appears
• centre – epithelium thinning; periphery – hyperplasia +
keratinization; mild inflammation