CODS - Journal of Dentistry

Register      Login

VOLUME 12 , ISSUE 1 ( January-June, 2020 ) > List of Articles


Achondroplasia: A Rare Syndrome

Ummey Salma, Antara Sinha, S Sreelatha

Citation Information : Salma U, Sinha A, Sreelatha S. Achondroplasia: A Rare Syndrome. CODS J Dent 2020; 12 (1):17-20.

DOI: 10.5005/jp-journals-10063-0058

License: CC BY-NC 4.0

Published Online: 05-04-2021

Copyright Statement:  Copyright © 2020; The Author(s).


Achondroplasia also known as “chondrodystrophia fetalis” is a rare disorder that affects the growth of long bones and cartilages. This disorder is characterized by dwarfism with marked disproportionate short limbs. Considering the complications that may emerge during the treatment of a patient with achondroplasia, it is pertinent that the pediatric dentist should be familiar with the marked features of this syndrome as dental management is duly restricted by practical problems associated with this condition. Patients with achondroplasia not only require specific medical management but also need special attention with definite dental management along with psychological support to help them lead a normal life and cope up with the medical and social challenges of life. We report in this paper about children aged between 3 years and 9 years with achondroplasia with extremely short stature, frontal bossing, macrocephaly, and various dental problems.

  1. Orioli IM, Castilla EE, Barbosa-Neto JG. The birth prevalence rates for the skeletal dysplasias. J Med Genet 1986;23(4):328–332. DOI: 10.1136/jmg.23.4.328.
  2. Chawla K, Lamban AK, Faraz F, et al. Achondroplasia and periodontal disease. J Indian Soc Periodontol 2012;16(1):138–140. DOI: 10.4103/0972-124X.94624.
  3. Celenk P, Arici S, Celenk C. Oral findings in a typical case of achondroplasia. J Int Med Res 2003;31(3):236–238. DOI: 10.1177/147323000303100311.
  4. Boulet S, Althuser M, Nugues F, et al. Prenatal diagnosis of achondroplasia: new specific signs. Prenat Diagn 2009;29(7):697–702. DOI: 10.1002/pd.2280.
  5. Nelson. Textbook of Pediatrics. 19th ed., vol. 11, Philadelphia: Saunders Co; 2011. pp. 1518–2428.
  6. Frank C, Shariff S, Pavani M, et al. Achondroplasia with polydactyly: a case report. J Clin Diagnos Res: JCDR 2017;11(3):ZD14. DOI: 10.7860/JCDR/2017/24678.9477.
  7. Hunter AGW, Bankier A, Rogers JG, et al. Medical complications of achondroplasia: a multi-centre patient review. J Med Genet 1998;35(9):705–712. DOI: 10.1136/jmg.35.9.705.
  8. Stephen L, Holmes H, Roberts T, et al. Orthodontic management of achondroplasia in South Africa. S Afr Med J 2005;95:588–589.
  9. Tong DC, Rothwell BR. Antibiotic prophylaxis in dentistry: a review and practice recommendations. J Am Dent Assoc 2000;131(3):366–374. DOI: 10.14219/jada.archive.2000.0181.
  10. Bober MB, Bellus GA, Nikkel SM, et al. Hypochondroplasia, In: Adam MP, Ardinger HH, Pagon RA, et al., ed. GeneReviews®; 1999.
  11. Cui X, Cui Y, Shi L, et al. A basic understanding of Turner syndrome: incidence, complications, diagnosis, and treatment. Intractable Rare Dis Res 2018;7(4):223–228. DOI: 10.5582/irdr.2017.01056.
  12. Piccione M, Piccione F, Giuffrè M, et al. Leri-Weill's syndrome: clinical, radiological and genetic investigations in five patients. Ital J Pediatr 2006;32:55–59.
  13. Kalla G, Fening E, Obiaya M. Anaesthetic management of achondroplasia. Br J Anaesth 1986;58(1):117–119. DOI: 10.1093/bja/58.1.117.
  14. Butler MG, Hayes BG, Hathaway MM, et al. Specific genetic diseases at risk for sedation/anaesthesia complications. Anesth Analg 2000;91(4):837–855. DOI: 10.1097/00000539-200010000- 00014.
PDF Share
PDF Share

© Jaypee Brothers Medical Publishers (P) LTD.