Oculofaciocardiodental syndrome

Oculofaciocardiodental syndrome is a rare X linked genetic disorder.^[1]

Genetics

This condition is caused by lesions in the BCOR gene located on the short arm of the X chromosome (Xp11.4). This protein encodes the BCL6 corepressor but little is currently known about its function.

The inheritance is X-linked dominant.

Clinical

The incidence of this condition is <1 per million population. It is found only in females as all affected males die before birth.

Typical features of the condition include:

• Microphthalmia
• Early cataracts
• Glaucoma
• Atrial and/or ventricular defects
• Mitral valve prolapse
• Deep set eyes
• Broad nasal tip divided by a cleft
• Radiculomegaly (teeth with very large roots)
• Delayed loss of primary teeth
• Missing (oligodontia) or abnormally small teeth
• Misaligned teeth
• Defective tooth enamel.

Radiculomegally, cardiac defects and microophthalmia are the characteristic triad found in this syndrome.

Mild mental retardation and conductive or sensorineural hearing loss may occur.

History

The first features of this syndrome noted were the abnormal teeth which were described by Hayward.^[2]

References

1. Surapornsawasd T, Ogawa T, Tsuji M, Moriyama K (2014) Oculofaciocardiodental syndrome: novel BCOR mutations and expression in dental cells. J Hum Genet doi: 10.1038/jhg.2014.24
2. Hayward JR (1980) Cuspid gigantism. Oral Surg Oral Med Oral Pathol 49: 500–501