tooth abnormalities


Summary: Congenital absence of or defects in structures of the teeth.

Top Publications

  1. Pemberton T, Mendoza G, Gee J, Patel P. Inherited dental anomalies: a review and prospects for the future role of clinicians. J Calif Dent Assoc. 2007;35:324-6, 328-33 pubmed
  2. Townsend G, Harris E, Lesot H, Clauss F, Brook A. Morphogenetic fields within the human dentition: a new, clinically relevant synthesis of an old concept. Arch Oral Biol. 2009;54 Suppl 1:S34-44 pubmed publisher
    ..Indeed, this new synthesis can provide a sound foundation for clinical diagnosis, counselling and management of patients with various anomalies of dental development as well as suggesting hypotheses for future studies...
  3. Garib D, Alencar B, Lauris J, Baccetti T. Agenesis of maxillary lateral incisors and associated dental anomalies. Am J Orthod Dentofacial Orthop. 2010;137:732.e1-6; discussion 732-3 pubmed publisher
    ..The objectives of this study were to evaluate the prevalence of dental anomalies in patients with agenesis of maxillary lateral incisors and to compare the findings with the prevalence of these anomalies in the general population...
  4. Parry D, Mighell A, El Sayed W, Shore R, Jalili I, Dollfus H, et al. Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta. Am J Hum Genet. 2009;84:266-73 pubmed publisher
    ..The identification of CNNM4 as the causative gene for Jalili syndrome, characterized by syndromic CRD with AI, has the potential to provide new insights into the roles of metal transport in visual function and biomineralization. ..
  5. Uslu O, Akcam M, Evirgen S, Cebeci I. Prevalence of dental anomalies in various malocclusions. Am J Orthod Dentofacial Orthop. 2009;135:328-35 pubmed publisher
    ..A remarkably high rate of dental anomalies was recorded in orthodontic patients; therefore, orthodontists should carefully examine pretreatment records for dental anomalies to include their management in the treatment planning. ..
  6. Shao Q, Liu Q, Lorentz R, Gong X, Bai D, Shaw G, et al. Structure and functional studies of N-terminal Cx43 mutants linked to oculodentodigital dysplasia. Mol Biol Cell. 2012;23:3312-21 pubmed publisher
    ..Collectively, these studies suggest that the nature of the mutation conveys loss of Cx43 function by distinctly different mechanisms that are rooted in the structure of the N-terminal region...
  7. Amador C, Mathews A, Del Carmen Montoya M, Laughridge M, Everman D, Holden K. Expanding the neurologic phenotype of oculodentodigital dysplasia in a 4-generation Hispanic family. J Child Neurol. 2008;23:901-5 pubmed publisher
    ..These findings expand the neurologic phenotype and prognosis and underscore the importance of counseling families with oculodentodigital dysplasia about the possibility of neurologic involvement...
  8. Alsmadi O, Meyer B, Alkuraya F, Wakil S, Alkayal F, Al Saud H, et al. Syndromic congenital sensorineural deafness, microtia and microdontia resulting from a novel homoallelic mutation in fibroblast growth factor 3 (FGF3). Eur J Hum Genet. 2009;17:14-21 pubmed publisher
    ..Conserved glycine/proline residues are central to the 'beta-trefoil fold' characteristic of the secondary structure of FGF family proteins and substitution of these residues is likely to disrupt structure and consequently function. ..
  9. Maciel J, de Castro C, Brunetto A, Di Leone L, da Silveira H. Oral health and dental anomalies in patients treated for leukemia in childhood and adolescence. Pediatr Blood Cancer. 2009;53:361-5 pubmed publisher
    ..Their GBI and VPI were also elevated. Changes in salivary glands during treatment did not affect saliva flow permanently. Follow-up of these patients by an oral health team is recommended. ..

More Information


  1. da Silva A, Costa B, de Carvalho Carrara C. Dental anomalies of number in the permanent dentition of patients with bilateral cleft lip: radiographic study. Cleft Palate Craniofac J. 2008;45:473-6 pubmed publisher
  2. Martelli Junior H, Bonan P, Dos Santos L, Santos S, Cavalcanti M, Coletta R. Case reports of a new syndrome associating gingival fibromatosis and dental abnormalities in a consanguineous family. J Periodontol. 2008;79:1287-96 pubmed
    ..This article reports one kindred affected by a syndrome characterized by GF associated with dental abnormalities (DA) including generalized thin hypoplastic amelogenesis imperfecta (AI)...
  3. Ramsebner R, Ludwig M, Parzefall T, Lucas T, Baumgartner W, Bodamer O, et al. A FGF3 mutation associated with differential inner ear malformation, microtia, and microdontia. Laryngoscope. 2010;120:359-64 pubmed publisher
    ..R95W mutation in FGF3, mirroring phenotypes observed in mouse models ablating FGF3/FGFR2 signaling. ..
  4. Miloglu O, Cakici F, Caglayan F, Yilmaz A, Demirkaya F. The prevalence of root dilacerations in a Turkish population. Med Oral Patol Oral Cir Bucal. 2010;15:e441-4 pubmed
    ..The radiographic diagnosis of this anomaly is important before surgery, and especially before endodontic treatment or orthodontic treatment. ..
  5. Fujita Y, Hidaka A, Nishida I, Morikawa K, Hashiguchi D, Maki K. Developmental anomalies of permanent lateral incisors in young patients. J Clin Pediatr Dent. 2009;33:211-5 pubmed
    ..Nevertheless, the early differential diagnosis of an eruption disturbance is important in order to begin appropriate treatment at the optimal time. ..
  6. Churko J, Shao Q, Gong X, Swoboda K, Bai D, SAMPSON J, et al. Human dermal fibroblasts derived from oculodentodigital dysplasia patients suggest that patients may have wound-healing defects. Hum Mutat. 2011;32:456-66 pubmed publisher
    ..Collectively, our results suggest that ODDD patients may have subclinical defects in wound healing due to impaired function of dermal fibroblasts...
  7. Martelli Junior H, Santos C, Bonan P, Moura P, Bitu C, Leon J, et al. Minichromosome maintenance 2 and 5 expressions are increased in the epithelium of hereditary gingival fibromatosis associated with dental abnormalities. Clinics (Sao Paulo). 2011;66:753-7 pubmed
    ..However, our data suggest that different biological mechanisms may account for the pathogenesis of different types of gingival fibromatosis. ..
  8. Pomeroy E. Labial talon cusps: a South American archaeological case in the deciduous dentition and review of a rare trait. Br Dent J. 2009;206:277-82 pubmed publisher
    ..Differences between these traits in sex distribution, frequency of maxillary and mandibular cases, and the most commonly affected teeth are demonstrated...
  9. Hsieh S, Hibbert S, Shaw P, Ahern V, Arora M. Association of cyclophosphamide use with dental developmental defects and salivary gland dysfunction in recipients of childhood antineoplastic therapy. Cancer. 2011;117:2219-27 pubmed publisher
    ..This study applied the HDI to patients receiving all forms of antineoplastic treatment and highlights the dose-dependent relation between cumulative dose of cyclophosphamide and dental disturbances. ..
  10. Sirmaci A, Spiliopoulos M, Brancati F, Powell E, Duman D, Abrams A, et al. Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia. Am J Hum Genet. 2011;89:289-94 pubmed publisher
    ..Our results demonstrate that mutations in ANKRD11 cause KBG syndrome and outline a fundamental role of ANKRD11 in craniofacial, dental, skeletal, and central nervous system development and function...
  11. Huang T, Shao Q, Macdonald A, Xin L, Lorentz R, Bai D, et al. Autosomal recessive GJA1 (Cx43) gene mutations cause oculodentodigital dysplasia by distinct mechanisms. J Cell Sci. 2013;126:2857-66 pubmed publisher
  12. Kaste S, Goodman P, Leisenring W, Stovall M, Hayashi R, Yeazel M, et al. Impact of radiation and chemotherapy on risk of dental abnormalities: a report from the Childhood Cancer Survivor Study. Cancer. 2009;115:5817-27 pubmed publisher
    ..The authors concluded that patients who received receiving alkylating agents at age<5 years should be closely monitored. ..
  13. Celikoglu M, Miloglu O, Oztek O. Investigation of tooth transposition in a non-syndromic Turkish anatolian population: characteristic features and associated dental anomalies. Med Oral Patol Oral Cir Bucal. 2010;15:e716-20 pubmed
    ..27% in a Turkish Anatolian population and maxillary canine-lateral incisor was the most frequently observed transposition. Retained primary teeth were the most frequently observed dental anomaly in all types of tooth transposition. ..
  14. Abe R, Endo T, Shimooka S. Maxillary first molar agenesis and other dental anomalies. Angle Orthod. 2010;80:1002-9 pubmed publisher
    ..Agenesis of maxillary first molars is associated with a higher prevalence of other permanent tooth agenesis and advanced tooth agenesis. ..
  15. Bailleul Forestier I, Berdal A, Vinckier F, de Ravel T, Fryns J, Verloes A. The genetic basis of inherited anomalies of the teeth. Part 2: syndromes with significant dental involvement. Eur J Med Genet. 2008;51:383-408 pubmed publisher
    ..A better knowledge of the dental phenotype may contribute to an earlier diagnosis of some MCA syndromes involving teeth anomalies. They may serve as a diagnostic indicator or help confirm a syndrome diagnosis. ..
  16. Oguz A, Cetiner S, Karadeniz C, Alpaslan G, Alpaslan C, Pinarli G. Long-term effects of chemotherapy on orodental structures in children with non-Hodgkin's lymphoma. Eur J Oral Sci. 2004;112:8-11 pubmed
    ..The results show that long-term survivors of NHL patients exhibit some orodental disturbances that may be attributed to the chemotherapy regimens. ..
  17. Zarina R, Nik Hussein N. Dental abnormalities of a long-term survivor of a childhood hematological malignancy: literature review and report of a case. J Clin Pediatr Dent. 2005;29:167-74 pubmed
    ..Therefore these patients may require a scheduled careful preventive programme, long-term follow up, with prophylactic treatment and intervention at appropriate time to minimize the consequences of the disease and the given therapy. ..
  18. Loddenkemper T, Grote K, Evers S, Oelerich M, Stögbauer F. Neurological manifestations of the oculodentodigital dysplasia syndrome. J Neurol. 2002;249:584-95 pubmed
    ..A clinical guide to the neurological manifestations of ODDD may assist in the assessment of patients with this condition. ..
  19. Price J, Bowden D, Wright J, Pettenati M, Hart T. Identification of a mutation in DLX3 associated with tricho-dento-osseous (TDO) syndrome. Hum Mol Genet. 1998;7:563-9 pubmed
    ..This first report of a human mutation in the DLX genes is consistent with murine studies indicating their important role in the development of hair, teeth and bone. ..
  20. Burdon K, McKay J, Sale M, Russell Eggitt I, Mackey D, Wirth M, et al. Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation. Am J Hum Genet. 2003;73:1120-30 pubmed
  21. Hölttä P, Alaluusua S, Saarinen Pihkala U, Peltola J, Hovi L. Agenesis and microdontia of permanent teeth as late adverse effects after stem cell transplantation in young children. Cancer. 2005;103:181-90 pubmed
    ..Young age (< or = 5.0 years) at SCT was found to be a stronger risk factor than TBI, although TBI caused additive impairment. ..
  22. Vieira H, Gregory Evans K, Lim N, Brookes J, Brueton L, Gregory Evans C. First genomic localization of oculo-oto-dental syndrome with linkage to chromosome 20q13.1. Invest Ophthalmol Vis Sci. 2002;43:2540-5 pubmed
    ..1. The identification of the disease gene is not only relevant to the study of vision and hearing defects, but also highlights an exceptional gene involved in the development of human dentition. ..
  23. Hölttä P, Alaluusua S, Saarinen Pihkala U, Wolf J, Nystrom M, Hovi L. Long-term adverse effects on dentition in children with poor-risk neuroblastoma treated with high-dose chemotherapy and autologous stem cell transplantation with or without total body irradiation. Bone Marrow Transplant. 2002;29:121-7 pubmed
    ..Disturbances in dental development may compromise occlusal function in poor-risk NBL patients after ASCT, especially when TBI is included in the conditioning regimen. Long-term dental follow-up and rehabilitation is required...
  24. Dassule H, Lewis P, Bei M, Maas R, McMahon A. Sonic hedgehog regulates growth and morphogenesis of the tooth. Development. 2000;127:4775-85 pubmed
    ..These studies demonstrate that Shh regulates growth and determines the shape of the tooth. However, Shh signaling is not essential for differentiation of ameloblasts or odontoblasts. ..
  25. Kotsomitis N, Freer T. Inherited dental anomalies and abnormalities. ASDC J Dent Child. 1997;64:405-8 pubmed
    ..Further family studies are necessary to reveal the mode of inheritance of some of these dental anomalies and twin studies comparing monozygous and dizygous twins would enable an estimation of the extent of their inheritance. ..
  26. Mavrodisz K, Rozsa N, Budai M, Soós A, Pap I, Tarjan I. Prevalence of accessory tooth cusps in a contemporary and ancestral Hungarian population. Eur J Orthod. 2007;29:166-9 pubmed
    ..The data are in agreement with linguistic evidence that shows that distant Hungarian ancestors belonged to the Finno-Ugrian family of people, whose habitats extended from the Baltic to the middle Urals...
  27. Tekin M, Ozturkmen Akay H, Fitoz S, Birnbaum S, Cengiz F, Sennaroglu L, et al. Homozygous FGF3 mutations result in congenital deafness with inner ear agenesis, microtia, and microdontia. Clin Genet. 2008;73:554-65 pubmed publisher
    ..However, similar venous anomalies were also detected in persons with non-syndromic Michel aplasia, suggesting that a direct causative role of impaired FGF3 signaling is unlikely. ..
  28. de la Parra D, Zenteno J. A new GJA1 (connexin 43) mutation causing oculodentodigital dysplasia associated to uncommon features. Ophthalmic Genet. 2007;28:198-202 pubmed
    ..The phenotype of three previously described patients with Cx43 first intracellular domain mutation is discussed and compared with that observed in our patient. This case expands the phenotypic and genotypic spectrum of ODDD. ..
  29. Amendt B, Semina E, Alward W. Rieger syndrome: a clinical, molecular, and biochemical analysis. Cell Mol Life Sci. 2000;57:1652-66 pubmed
    ..This review discusses the clinical manifestations of Rieger syndrome and how they correlate with the current molecular and biochemical studies on this human disorder. ..
  30. Lorena S, Oliveira D, Odellt E. Multiple dental anomalies in the maxillary incisor region. J Oral Sci. 2003;45:47-50 pubmed
    ..The patient also exhibited Carabelli's cusp on both maxillary first molars. No developmental syndrome was identified. This very unusual combination of anomalies has not been reported previously. ..
  31. Mintz S, Velez I. Craniometaphyseal dysplasia associated with obstructive sleep apnoea syndrome. Dentomaxillofac Radiol. 2004;33:262-6 pubmed
    ..The literature and differential diagnoses are reviewed. ..
  32. Alaluusua S, Calderara P, Gerthoux P, Lukinmaa P, Kovero O, Needham L, et al. Developmental dental aberrations after the dioxin accident in Seveso. Environ Health Perspect. 2004;112:1313-8 pubmed
    ..The results support our hypothesis that dioxins can interfere with human organogenesis. ..
  33. Richardson R, Donnai D, Meire F, Dixon M. Expression of Gja1 correlates with the phenotype observed in oculodentodigital syndrome/type III syndactyly. J Med Genet. 2004;41:60-7 pubmed
  34. Semina E, Reiter R, Leysens N, Alward W, Small K, Datson N, et al. Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome. Nat Genet. 1996;14:392-9 pubmed
    ..RIEG characterization provides opportunities for understanding ocular, dental and umbilical development and the pleiotropic interactions of pituitary and limb morphogenesis. ..
  35. Apajalahti S, Arte S, Pirinen S. Short root anomaly in families and its association with other dental anomalies. Eur J Oral Sci. 1999;107:97-101 pubmed
    ..An association with tooth agenesis and ectopic canines was noted, the prevalences of which were 46% and 33%, respectively. We stress the importance of not misdiagnosing this anomaly as resorption. ..
  36. Altug Atac A, Erdem D. Prevalence and distribution of dental anomalies in orthodontic patients. Am J Orthod Dentofacial Orthop. 2007;131:510-4 pubmed
    ..The distribution by sex was 70 boys (5.05%) and 96 girls (5.79%). Hypodontia is the most common developmental dental anomaly in the Turkish population, followed by microdontia. ..
  37. Becker A, Gillis I, Shpack N. The etiology of palatal displacement of maxillary canines. Clin Orthod Res. 1999;2:62-6 pubmed
    ..The canine aberration occurred far more frequently on the side of the diminutive lateral incisor. There is an environmental factor involved in the palatal displacement of maxillary canines. ..
  38. Thesleff I. The genetic basis of tooth development and dental defects. Am J Med Genet A. 2006;140:2530-5 pubmed
    ..Necessary functions of many signals, receptors and transcription factors have been demonstrated in mice, and mutations causing dental defects in humans have been identified in several genes. ..
  39. Kapadia H, Frazier Bowers S, Ogawa T, D Souza R. Molecular characterization of a novel PAX9 missense mutation causing posterior tooth agenesis. Eur J Hum Genet. 2006;14:403-9 pubmed
    ..Based on our observed defects in DNA binding by the mutant protein, we propose a loss-of-function mechanism that contributes to haploinsufficiency of PAX9 in this family with posterior tooth agenesis. ..
  40. Stambolian D, Lewis R, Buetow K, Bond A, Nussbaum R. Nance-Horan syndrome: localization within the region Xp21.1-Xp22.3 by linkage analysis. Am J Hum Genet. 1990;47:13-9 pubmed
    ..07). Our linkage results, combined with analysis of Xp interstitial deletions, suggest that the NHS locus is located within or close to the Xp22.1-Xp22.2 region. ..
  41. Ozeki H, Shirai S, Ikeda K, Ogura Y. Anomalies associated with Axenfeld-Rieger syndrome. Graefes Arch Clin Exp Ophthalmol. 1999;237:730-4 pubmed
    ..Patients with Axenfeld-Rieger syndrome should therefore be examined for the presence of anomalies in the tissues of neural crest origin. Patients with hypoplasia of the iris should be checked for glaucoma. ..
  42. Miletich I, Sharpe P. Normal and abnormal dental development. Hum Mol Genet. 2003;12 Spec No 1:R69-73 pubmed
    ..We review here the main signalling networks mediating the epithelial-mesenchymal interactions involved in tooth morphogenesis and patterning. ..
  43. Hedera P, Gorski J. Oculo-facio-cardio-dental syndrome: skewed X chromosome inactivation in mother and daughter suggest X-linked dominant Inheritance. Am J Med Genet A. 2003;123A:261-6 pubmed
    ..These two individuals also displayed a skewed pattern of X chromosome inactivation. Together, these data strongly support the hypothesis that OFCD is inherited as an X-linked dominant condition. ..
  44. Gong X, Shao Q, Lounsbury C, Bai D, Laird D. Functional characterization of a GJA1 frameshift mutation causing oculodentodigital dysplasia and palmoplantar keratoderma. J Biol Chem. 2006;281:31801-11 pubmed
    ..These results suggest that the 46 aberrant amino acid residues associated with the frameshift mutant are, at least in part, responsible for the manifestation of palmoplantar keratoderma symptoms...
  45. Tekin M, Hişmi B, Fitoz S, Ozdag H, Cengiz F, Sirmaci A, et al. Homozygous mutations in fibroblast growth factor 3 are associated with a new form of syndromic deafness characterized by inner ear agenesis, microtia, and microdontia. Am J Hum Genet. 2007;80:338-44 pubmed
    ..Of particular interest is that the development of the inner ear is completely disturbed at a very early stage--or the otic vesicle is not induced at all--in all of the affected individuals who carried two mutant FGF3 alleles. ..
  46. Kjaer K, Hansen L, Eiberg H, Leicht P, Opitz J, Tommerup N. Novel Connexin 43 (GJA1) mutation causes oculo-dento-digital dysplasia with curly hair. Am J Med Genet A. 2004;127A:152-7 pubmed
    ..We provide an easy method for mutation detection by use of the restriction enzyme Nde1 and discuss possible pathogenetic mechanisms, arguing that loss of function cannot be excluded. This is the second article reporting ODDD mutations. ..
  47. Heliövaara A, Ranta R, Rautio J. Dental abnormalities in permanent dentition in children with submucous cleft palate. Acta Odontol Scand. 2004;62:129-31 pubmed
    ..As children with submucous cleft palate have a tendency towards increased frequency of missing teeth and other dental abnormalities, the need for thorough clinical and radiological dental examination is emphasized. ..
  48. Hovland E, Block R. Nonrecognition and subsequent endodontic treatment of dens invaginatus. J Endod. 1977;3:360-2 pubmed
  49. Minicucci E, Lopes L, Crocci A. Dental abnormalities in children after chemotherapy treatment for acute lymphoid leukemia. Leuk Res. 2003;27:45-50 pubmed
    ..The abnormalities were probably caused by the type, intensity, frequency of the treatment and age of the patients at ALL diagnosis and this might have important consequences for the children's dental development. ..
  50. Lopes N, Petrilli A, Caran E, França C, Chilvarquer I, Lederman H. Dental abnormalities in children submitted to antineoplastic therapy. J Dent Child (Chic). 2006;73:140-5 pubmed
    ..This study's results show that it is necessary for the odontologist to systematically research the dental changes that occur among this special group of patients. ..
  51. Zhang H, Somerman M, Berg J, Cunningham M, Williams B. Dental anomalies in a child with craniometaphysial dysplasia. Pediatr Dent. 2007;29:415-9 pubmed
    ..Radiographic evidence of excess mineralization was noted on the primary maxillary second molars, limited to the mesial region of the crowns. The genetic and molecular effects of Ank/Ankh mutations are also discussed...
  52. Tallon Walton V, Manzanares Céspedes M, Arte S, Carvalho Lobato P, Valdivia Gandur I, Garcia Susperregui A, et al. Identification of a novel mutation in the PAX9 gene in a family affected by oligodontia and other dental anomalies. Eur J Oral Sci. 2007;115:427-32 pubmed
    ..This fact underscores the importance that other presently unknown genes and developmental factors have in tooth development and in the etiology of dental anomalies. ..
  53. Levitan M, Himel V. Dens evaginatus: literature review, pathophysiology, and comprehensive treatment regimen. J Endod. 2006;32:1-9 pubmed