Developmental Disturbances of the Teeth, Anomalies of Shape and Size

Etiology

Microdontia is a rare dental anomaly characterized by teeth that appear smaller than expected. True generalized microdontia, a condition affecting all teeth, often occurs in individuals with systemic syndromes, such as pituitary dwarfism and orofaciodigital or oculomandibulofacial syndrome.[1][2][3] Younger patients who have undergone chemoradiotherapy may also develop microdontia due to disruptions in dental development.[4] True generalized microdontia rarely occurs in individuals without underlying genetic or developmental conditions.

Macrodontia, also known as megalodontia, has an unclear etiology, though both genetic and environmental factors have been implicated.[5][6] Generalized macrodontia, where larger-than-normal teeth appear throughout the dentition, has been associated with conditions such as insulin-resistant diabetes, otodental syndrome, and hypophyseal gigantism.[7] In contrast, isolated macrodontia typically occurs without syndromic associations or underlying systemic pathology.[8]

Taurodontism has been commonly attributed to the incomplete invagination of the epithelial root sheath during tooth development, leading to misplaced dentin deposition and an abnormally large pulp chamber (see Image. Dental Taurodontism).[9][10] This anomaly has been associated with several syndromes, including amelogenesis imperfecta, Klinefelter syndrome, and Down syndrome.

Fusion occurs when 2 developing tooth buds join, forming a larger tooth with 2 distinct tooth germs. This process may result from the proximity of adjacent tooth germs or the presence of a developing supernumerary tooth bud near a normally developing tooth.

Epidemiology

Microdontia occurs more frequently in female individuals, with an overall incidence of 1.5% to 2%.[11] The maxillary lateral incisor is most commonly affected, often referred to as a "peg lateral."[12] Macrodontia has no sex predilection and has been reported in permanent teeth, with a prevalence ranging from 0.03% to 1.9%.[13] This condition typically presents in individuals aged 8 to 13, coinciding with the eruption of permanent dentition.

Taurodontism occurs more frequently in male individuals and has been associated with X-linked syndromes.[14] The incidence of this condition is reportedly less than 1%, with a higher prevalence in Arctic and Native American populations.[15] Fusion has been observed in 0.21% of a population of 1,200 patients and has no known sex predilection.[16][17]

Pathophysiology

Microdontia arises from disruptions in normal dental development, where processes fail to progress to completion. These disturbances may have genetic, environmental, or multifactorial origins.

Macrodontia results from the overexpression of developmental signals, leading to hyperactivity in the tissues involved in tooth formation. This anomaly has been linked to systemic, syndromic, and environmental factors and produces teeth that are larger than normal.

Taurodontism has been attributed to 3 proposed pathological mechanisms: an atypical developmental pattern causing delayed calcification of the pulp chamber, a deficiency of odontoblasts causing alterations in the Hertwig epithelial root sheath, or a disruption in developmental homeostasis.[18]

Fusion occurs when 2 developing tooth buds are close enough to merge, forming a single unit. This process may result from the proximity of adjacent tooth buds or the presence of supernumerary teeth. Studies suggest that signaling mediated by the Jagged2 gene may influence tooth development and contribute to fusion.[19] Fusion should be distinguished from gemination, a process in which a single tooth bud attempts to divide, producing a tooth with a partially split crown that appears larger or bifid. In fusion, the total tooth count decreases because 2 teeth merge into 1, whereas in gemination, the overall number of teeth remains unchanged.

Histopathology

Microdontia presents histologically as a structurally normal tooth, but the enamel and dentin layers are thinner and less robust than those of a normal-sized tooth. Macrodontia also appears histologically unremarkable, but the enamel and dentin layers are thicker and more pronounced.

Taurodontism is characterized by a hyperplastic, abnormally large pulp chamber with excess pulpal tissue. Despite the increased volume, the tissue maintains normal histological features.

Teeth affected by fusion appear histologically normal, though the extent and location of fusion influence structural variations. Depending on the developmental stage at which fusion occurs, pulpal chambers, roots, or crowns may be fused or duplicated.[20]

History and Physical

Microdontia often produces teeth with a conical or peg-shaped appearance, most commonly associated with developmental or syndromic conditions. True generalized microdontia, affecting the entire dentition without an underlying syndrome, is rare and warrants further evaluation. Macrodontia presents as teeth that are larger than expected, with generalized cases often linked to syndromic or systemic conditions. A rare variant, polarization, refers to macrodontia affecting premolars, causing them to resemble molars. Only 36 cases have been documented in the literature.[21] Patients with generalized macrodontia should undergo evaluation for potential underlying systemic or syndromic conditions.

Taurodontism is typically diagnosed radiographically during routine dental visits, as patients are usually unaware of the condition.[22] Fusion presents as an enlarged clinical crown resulting from the union of 2 normally separate tooth germs during development (see Image. Dental Fusion in Primary Dentition).

The extent of fusion depends on the stage at which it occurs. Complete fusion arises when the entire tooth develops as a single unit, whereas incomplete fusion results in a fissure or cleft on the tooth surface.

Evaluation

Microdontia refers to teeth that appear smaller than expected, and it is classified based on severity. Localized microdontia affects a single tooth. Relative generalized microdontia occurs when teeth appear smaller due to a disproportionately large maxilla or mandible. True generalized microdontia involves the entire dentition.[23] Macrodontia is often identified on routine dental radiographs between the ages of 8 and 13 when the permanent dentition begins to erupt. Isolated larger-than-normal teeth typically require no intervention, whereas generalized macrodontia should prompt further evaluation for an underlying genetic or developmental condition.[24]

Taurodontism is identified radiographically by enlarged pulp chambers and shortened roots, features that are not clinically observable. Fusion is typically detected during routine dental examinations or when it affects the aesthetic zone, where a single large tooth occupies the space of 2. Patients may remain unaware of the condition unless it presents an aesthetic or functional concern.

Treatment / Management

Microdontia treatment is primarily cosmetic or functional. Patients with abnormally small teeth often present with diastemas between adjacent teeth, which are best managed with orthodontic therapy. In contrast, macrodontia typically requires an interprofessional treatment approach. The decision to retain a macrodont in the dental arch depends on its size and impact on oral anatomy. Exodontia, followed by orthodontic therapy, is the most common treatment strategy.[25](B3)

Taurodont teeth present challenges across multiple dental specialties. The large pulp chamber and prominent pulp horns increase the risk of pulp exposure due to decay. Variability in pulp chamber size and shape, including apically positioned canal orifices and accessory root canal systems, complicates endodontic therapy.[26](B3)

From a prosthodontic perspective, postplacement is highly challenging and often contraindicated due to the unpredictable pulp chamber and the inability to achieve an intimate fit between the post and surrounding tooth structure. Extractions are similarly complicated by the apical positioning of the furcation, which hinders the adaptation of forceps or elevators. However, from a periodontal standpoint, taurodontism may improve the prognosis of affected teeth. The apically positioned root furcation reduces the likelihood of furcation involvement, lowering the risk of periodontal complications.[27](B3)

To minimize further complications, patients should receive counseling on maintaining optimal oral hygiene and caring for these teeth. Dentists may recommend customized oral hygiene strategies based on individual risk factors.

Differential Diagnosis

The differential diagnosis for each anomalous condition is outlined below. Additional diagnostic tools, such as radiographic evaluation and genetic testing, may aid in distinguishing between these conditions.

Microdontia

• Pituitary dwarfism
• Hypopituitarism
• Growth hormone-related defects

Macrodontia

• Gemination
• Fusion
• Facial hemihypertrophy

Taurodontism

• Amelogenesis imperfecta
• Dentinogenesis imperfecta
• X-chromosomal Aneuploidy

Fusion

• Macrodontia
• Gemination
• Talon cusp

Prognosis

Microdontia generally has a good prognosis, as its developmental origin does not necessarily affect dental function. Restorative and orthodontic interventions typically address any functional or aesthetic concerns.[28] Macrodontia also has a favorable prognosis, as dental function usually remains intact. Restorative or orthodontic treatment is often sufficient to manage any associated problems.[29]

Taurodontism typically has a good prognosis if proper oral hygiene is maintained. However, dental interventions may be complicated by an enlarged and unpredictable pulp chamber or pulpal system.[30] Fusion typically has a good prognosis, provided the patient maintains optimal oral hygiene. These teeth are more likely to require restorative, periodontal, or endodontic therapy if not properly maintained.[31]

Complications

Depending on its severity and extent, microdontia may present aesthetic or functional challenges. In most cases, underlying syndromes cause greater difficulties than the dental condition itself.[32]

Macrodontia often presents an aesthetic concern in the anterior maxilla, while macrodonts in the posterior region may contribute to crowding and impede normal tooth eruption. Radiographic monitoring is essential to assess potential eruption abnormalities.

As mentioned, taurodontism presents restorative, prosthodontic, endodontic, and surgical management challenges. Despite these complications, patients are typically unaware of the condition unless dental intervention is required.

Fusion may pose an aesthetic concern due to the altered shape and size of the affected tooth. These teeth are also at an increased risk of decay and periodontal disease and may complicate endodontic therapy.