Journal of South Asian Association of Pediatric Dentistry

Register      Login

VOLUME 7 , ISSUE 1 ( January-April, 2024 ) > List of Articles


Axenfeld–Rieger Syndrome: A Case Report and Brief Review

Amina Sultan, Simran Uppal, Akanksha Juneja

Keywords : Axenfeld–Rieger syndrome, Case report, Everted umbilicus, Glaucoma, Hypodontia, Oligodontia

Citation Information : Sultan A, Uppal S, Juneja A. Axenfeld–Rieger Syndrome: A Case Report and Brief Review. J South Asian Assoc Pediatr Dent 2024; 7 (1):50-54.

DOI: 10.5005/jp-journals-10077-3291

License: CC BY-NC 4.0

Published Online: 27-04-2024

Copyright Statement:  Copyright © 2024; The Author(s).


Axenfeld–Rieger Syndrome (ARS) is a rare autosomal dominant genetic disorder with an overall incidence of 1:200,000 that has mainly ocular, periumbilical, and dental abnormalities like oligodontia/hypodontia, microdontia, and delayed eruption of permanent teeth. Its management requires a multidisciplinary approach involving a team of dentists, ophthalmologists, cardiologists, and general physicians, along with regular follow-up. Pediatric dentists play a crucial role in such patients, as a timely diagnosis could prevent ocular complications such as glaucoma in later stages. This paper presents a case report with the classical signs and symptoms of ARS in a 12-year-old female patient demonstrating oligodontia, microdontia, and short roots.

PDF Share
  1. Dunbar AC, McIntyre GT, Laverick S, et al. Axenfeld-Rieger syndrome: a case report. J Orthod 2015;42(4):324–330. DOI: 10.1179/1465313315Y.0000000017
  2. Agarwal P, Jain K, Sandesh S, et al. Axenfeld-Rieger syndrome: rare case presentation and overview. J Maxillofac Oral Surg 2020;19(3):364–369. DOI: 10.1007/s12663-019-01307-9
  3. Williams AL, Bohnsack BL. The ocular neural crest: specification, migration, and then what? Front Cell Dev Biol 2020;8:595896. DOI: 10.3389/fcell.2020.595896
  4. Rao A, Padhy D, Sarangi S, et al. Unclassified Axenfeld-Rieger syndrome: a CASE SERIES and review of literature. Semin Ophthalmol 2018;33(3):300–307. DOI: 10.1080/08820538.2016.1208767
  5. Alward WL. Axenfeld-Rieger syndrome in the age of molecular genetics. Am J Ophthalmol 2000;130(1):107–115. DOI: 10.1016/s0002-9394(00)00525-0
  6. Seifi M, Walter MA. Axenfeld-Rieger syndrome. Clin Genet 2018;93(6):1123–1130. DOI: 10.1111/cge.13148
  7. Dhir L, Frimpong-Ansah K, Habib NE. Missed case of Axenfeld-Rieger syndrome: a case report. Cases J 2008;1(1):299. DOI: 10.1186/1757-1626-1-299
  8. Yu T, Dai Z, Peng R, et al. Axenfeld-Rieger syndrome: a novel histopathologic finding associated with corneal abnormalities. BMC Ophthalmol 2022;22(1):514. DOI: 10.1186/s12886-022-02754-8
  9. Waldron JM, McNamara C, Hewson AR, et al. Axenfeld-Rieger syndrome (ARS): a review and case report. Spec Care Dentist 2010;30(5):218–222. DOI: 10.1111/j.1754-4505.2010.00153.x
  10. Dressler S, Meyer-Marcotty P, Weisschuh N, et al. Dental and craniofacial anomalies associated with Axenfeld-Rieger syndrome with PITX2 mutation. Case Rep Med 2010;2010:621984. DOI: 10.1155/2010/621984
  11. Berenstein-Aizman G, Hazan-Molina H, Drori D, et al. Axenfeld-Rieger syndrome: dentofacial manifestation and oral rehabilitation considerations. Pediatr Dent 2011;33(5):440–444. PMID: 22104715.
  12. Bekir NA, Güngör K. Atrial septal defect with interatrial aneurysm and Axenfeld-Rieger syndrome. Acta Ophthalmol Scand 2000;78(1):101–103. DOI: 10.1034/j.1600-0420.2000.078001101.x
  13. Ozeki H, Shirai S, Ikeda K, et al. Anomalies associated with Axenfeld-Rieger syndrome. Graefes Arch Clin Exp Ophthalmol 1999;237(9):730–734. DOI: 10.1007/s004170050304
  14. Drum MA, Kaiser-Kupfer MI, Guckes AD, et al. Oral manifestations of the Rieger syndrome: report of case. J Am Dent Assoc 1985;110(3):343–346. DOI: 10.14219/jada.archive.1985.0324
  15. Ardila CM, Álvarez-Martínez E. Dental and maxillofacial manifestations of Axenfeld-Rieger syndrome: presentation of a case in a 5-year-old girl. Case Rep Dent 2022;2022:4348264. DOI: 10.1155/2022/4348264
  16. O'Dwyer EM, Jones DC. Dental anomalies in Axenfeld-Rieger syndrome. Int J Paediatr Dent 2005;15(6):459–463. DOI: 10.1111/j.1365-263X.2005.00639.x
  17. Valikodath N, Johns JA, Godown J. Cardiac anomalies in Axenfeld-Rieger syndrome. Cardiol Young 2023;33(7):1229–1231. DOI: 10.1017/S1047951122003857
  18. Chang TC, Summers CG, Schimmenti LA, et al. Axenfeld-Rieger syndrome: new perspectives. Br J Ophthalmol 2012;96(3):318–322. DOI: 10.1136/bjophthalmol-2011-300801
  19. Martinez-Glez V, Lorda-Sanchez I, Ramirez JM, et al. Clinical presentation of a variant of Axenfeld-Rieger syndrome associated with subtelomeric 6p deletion. Eur J Med Genet 2007;50(2):120–127. DOI: 10.1016/j.ejmg.2006.10.005
  20. Moog U, Bleeker-Wagemakers EM, Crobach P, et al. Sibs with Axenfeld-Rieger anomaly, hydrocephalus, and leptomeningeal calcifications: a new autosomal recessive syndrome? Am J Med Gen 1998;78(3):263–266. DOI: 10.1002/(SICI)1096-8628(19980707)78:3<263::AID-AJMG11>3.0.CO;2-D
  21. Jena AK, Kharbanda OP. Axenfeld-Rieger syndrome: report on dental and craniofacial findings. J Clin Pediatr Dent 2005;30(1):83–88. DOI: 10.17796/jcpd.30.1.v1732398454r0244
  22. Pirih FQ, Casarin M, Perussolo J, et al. Rieger syndrome: rehabilitation with dental implants. Clin Adv Periodontics 2019;9(4):172–176. DOI: 10.1002/cap.10065
PDF Share
PDF Share

© Jaypee Brothers Medical Publishers (P) LTD.