Oculofaciocardiodental syndrome
Oculofaciocardiodental syndrome is a rare X-linked dominant genetic disorder.
Presentation
The incidence of this condition is less than 1 per million. It is primarily only found in females. Its highly rare in males, but some males were born with it. Teeth with large roots, heart defects and small eyes (microphthalmia) are the characteristic triad found in this syndrome.Typical features of the condition include:
- Face
- * Deep set eyes
- * Broad nasal tip divided by a cleft
- Eyes
- * Microphthalmia
- * Early cataracts
- * Glaucoma
- Teeth
- * Radiculomegaly
- * Delayed loss of primary teeth
- * Missing or abnormally small teeth
- * Misaligned teeth
- * Defective tooth enamel
- Heart defects
- * Atrial and/or ventricular defects
- * Mitral valve prolapse
- Mild intellectual disability and conductive or sensorineural hearing loss may occur.
Genetics
This condition is caused by lesions in the BCOR gene located on the short arm of the X chromosome. This protein encodes the BCL6 corepressor, but little is currently known about its function. The inheritance is X-linked dominant.A genetically related disorder is Lenz microphthalmia syndrome.