Developmental disorders of the dentition: an update

Am J Med Genet C Semin Med Genet. 2013 Nov;163C(4):318-32. doi: 10.1002/ajmg.c.31382. Epub 2013 Oct 4.

Abstract

Dental anomalies are common congenital malformations that can occur either as isolated findings or as part of a syndrome. This review focuses on genetic causes of abnormal tooth development and the implications of these abnormalities for clinical care. As an introduction, we describe general insights into the genetics of tooth development obtained from mouse and zebrafish models. This is followed by a discussion of isolated as well as syndromic tooth agenesis, including Van der Woude syndrome (VWS), ectodermal dysplasias (EDs), oral-facial-digital (OFD) syndrome type I, Rieger syndrome, holoprosencephaly, and tooth anomalies associated with cleft lip and palate. Next, we review delayed formation and eruption of teeth, as well as abnormalities in tooth size, shape, and form. Finally, isolated and syndromic causes of supernumerary teeth are considered, including cleidocranial dysplasia and Gardner syndrome.

Keywords: craniofacial; hypodontia; mouse; supernumerary teeth; syndrome; teeth; zebrafish.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Abnormalities, Multiple / physiopathology
  • Animals
  • Anterior Eye Segment / abnormalities
  • Anterior Eye Segment / physiopathology
  • Cleft Lip / complications
  • Cleft Lip / physiopathology
  • Cleft Palate / complications
  • Cleft Palate / physiopathology
  • Cysts / complications
  • Cysts / physiopathology
  • Dentition*
  • Developmental Disabilities / complications
  • Developmental Disabilities / genetics
  • Developmental Disabilities / physiopathology*
  • Ectodermal Dysplasia / complications
  • Ectodermal Dysplasia / physiopathology
  • Eye Abnormalities / complications
  • Eye Abnormalities / physiopathology
  • Eye Diseases, Hereditary
  • Holoprosencephaly / complications
  • Holoprosencephaly / physiopathology
  • Humans
  • Lip / abnormalities
  • Lip / physiopathology
  • Mice
  • Orofaciodigital Syndromes / complications
  • Orofaciodigital Syndromes / physiopathology
  • Tooth / growth & development*
  • Tooth / pathology*

Supplementary concepts

  • Axenfeld-Rieger syndrome
  • Van der Woude syndrome