Definition An über rare multiple congenital anomaly syndrome (OMIM:300166) characterised by:
• Eye anomalies (congenital cataract, microphthalmia, secondary glaucoma)
• Facial abnormalities (long narrow face, high nasal bridge, pointed nose with cartilage separated at the tip, cleft palate, submucous cleft palate)
• Cardiac anomalies (atrial septal defect, ventricular septal defect, floppy mitral valve), and
• Dental abnormalities (canine radiculomegaly, delayed dentition, oligodontia, persistent primary teeth, variable root length).
Microphthalmia is a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities.
Molecular pathology Defects of BCOR, which encodes a POZ/zinc finger transcription repressor required for germinal centre formation and may influence apoptosis, cause microphthalmia—syndromic 2.
Synonyms ANOP2, MAA2, microphthalmia—cataracts—radiculomegaly—and septal heart defects, oculofaciocardiodental syndrome, OFCD syndrome