Oculofacialcardiodental Syndrome (OFCD)

Main Features

  • Congenital Cataracts
  • Cleft Palate
  • Distinctive faces with long narrow face
  • Congenital Heart Defects
  • Dental anomalies
    • radiculomegaly
    • oligodontia

Eye Findings

  • Congenital Cataracts
  • Microphthalmia
  • Glaucoma after cataract surgery

Other Findings

  • ASD, VSD

Etiology

  • X-linked dominant
  • BCOR gene mutations
  • Lethal to male embryos

Resources