Oculofaciocardiodental syndrome is a rare X linked genetic disorder.
Contents
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.
A genetically related disorder is Lenz microphthalmia syndrome.
Clinical
The incidence of this condition is <1 per million population. It is found only in females as all affected males die before birth. Teeth with large roots (radiculomegaly), heart defects, and small eyes (microphthalmia) are the characteristic triad found in this syndrome.
Typical features of the condition include:
History
The first features of this syndrome noted were the abnormal teeth which were described by Hayward.