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]