oculofaciocardiodental syndrome oculofaciocardiodental syndrome oculofaciocardiodental syndrome is a rare x-linked dominant genetic disorder. oculofaciocardiodental syndromethis condition is inherited in an x-linked dominant manner.specialtymedical genetics 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 (radiculomegaly), 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 (small eyes) early cataracts glaucoma teeth radiculomegaly (teeth with very large roots) delayed loss of primary teeth missing (oligodontia) 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 (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. diagnosis diagnosis can be confirmed through dna testing. history the first features of this syndrome noted were the abnormal teeth, which were described by hayward in 1980.