Oculo-facio-cardio-dental (OFCD) syndrome.

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.

• Authors: R J Gorlin, A H Marashi, H L Obwegeser
• Journal: American journal of medical genetics (Am J Med Genet) Vol. 63 Issue 1 Pg. 290-2 (May 03 1996) ISSN: 0148-7299 [Print] United States
• PMID: 8723122 (Publication Type: Case Reports, Journal Article)

Topics

• 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