Orofaciodigital syndrome

Ear Nose Throat J. 2012 Jan;91(1):E8-9. doi: 10.1177/014556131209100115.

Abstract

Orofaciodigital syndrome is a very rare entity with X-linked dominant inheritance characterized by oral, facial, and digital anomalies. Thirteen different types have been described in the literature to date. Of these, orofaciodigital syndrome type I has the highest incidence. Renal and central nervous system malformations may accompany the oral, facial, and digital anomalies. We report a case of orofaciodigital syndrome type I in a 9-year-old girl. The patient was admitted with a complaint unrelated to the syndrome. The coexistence of an oral anomaly with a digital anomaly in this patient led us to search for other possible anomalies. Ultrasonography revealed a diagnosis of polycystic kidneys. Physicians must be mindful of the external appearance of patients with this syndrome and be aware of life-threatening anomalies possibly associated with it.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Female
  • Humans
  • Orofaciodigital Syndromes / diagnosis*
  • Polycystic Kidney Diseases / diagnostic imaging*
  • Ultrasonography

Supplementary concepts

  • Orofaciodigital syndrome type1