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 (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.

Treatment
History
The first features of this syndrome noted were the abnormal teeth, which were described by Hayward in 1980.


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