Oculo-facio-cardio-dental (OFCD) syndrome

Am J Med Genet. 1996 May 3;63(1):290-2. doi: 10.1002/(SICI)1096-8628(19960503)63:1<290::AID-AJMG47>3.0.CO;2-G.

Abstract

Oculo-facio-cardio-dental syndrome consists of (1) eye anomalies: congenital cataract and microphthalmia, or secondary glaucoma, (2) facial abnormalities: (long narrow face, high nasal bridge, pointed nose with cartilages separated at the tip, cleft palate, or submucous cleft palate, (3) cardiac anomalies: atrial septal defect (ASD), ventricular septal defect (VSD), or floppy mitral valve; and (4) dental abnormalities: canine radiculomegaly, delayed dentition, oligodontia, persistent primary teeth, or variable root length. Other less common findings are: sensorineural hearing loss, septate vagina, and syndactyly of toes 2-3. Inheritance may be an X-linked dominant trait, lethal in the male.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Cleft Palate* / genetics
  • Cuspid / abnormalities
  • Eye Abnormalities* / genetics
  • Face / abnormalities*
  • Female
  • Genes, Lethal
  • Heart Defects, Congenital* / genetics
  • Humans
  • Male
  • Syndactyly / genetics
  • Syndrome
  • Tooth Abnormalities* / genetics
  • Vagina / abnormalities
  • X Chromosome