Orofacial digital syndrome type 1: an underlying cause of chronic renal failure

Ren Fail. 2014 Jul;36(6):946-7. doi: 10.3109/0886022X.2014.902249. Epub 2014 Apr 9.

Abstract

Orofacial digital syndrome type 1 is condition which is characterized with, in addition to oral-facial and digital congenital anomalies, polycystic renal disease in most patient, and the prognosis is dependent on renal involvement in such patients. Our case was a 22-year-old patient who was presented with clinical picture of chronic renal failure, was started on hemodialysis and had took our attention due to oral, facial and digital anomalies in addition to polycystic renal disease.

Keywords: Brachidactily; chronic renal failure; congetial anomalies; orofacial digital syndrome; polycystic kidney disease.

Publication types

  • Case Reports

MeSH terms

  • Female
  • Humans
  • Kidney Failure, Chronic / etiology*
  • Orofaciodigital Syndromes / complications*
  • Young Adult