Orofaciodigital syndrome I: a case report

J Clin Pediatr Dent. Summer 1996;20(4):329-32.


Orofaciodigital syndrome I is a syndrome, which affects the maxillofacial region. Abnormally developed vestibular frenulum, cleft tongue, asymmetric cleft palate, pseudocleft of the upper lip and hypoplasia of the nasal cartilages are some of the other features. There are some malformations in foot and hand fingers and also mild mental deficiency is present. OFD I syndrome follows an chi-linked dominant mode of transmission trait limited to females and lethal in males. Because of the esthetic and functional manifestations in the maxillofacial region, the syndrome has great importance for pediatric dentistry.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Diagnosis, Differential
  • Female
  • Genes, Dominant
  • Genetic Linkage
  • Humans
  • Labial Frenum / abnormalities
  • Lingual Frenum / abnormalities
  • Malocclusion
  • Mandible / abnormalities
  • Orofaciodigital Syndromes / classification
  • Orofaciodigital Syndromes / genetics
  • Orofaciodigital Syndromes / pathology*
  • Palate / abnormalities
  • Pedigree
  • Tongue / abnormalities
  • X Chromosome