syndromic microphthalmia 2

A syndromic microphthalmia characterized by ocular defects including microphthalmia, microcornea, and congentital cataract; facial dysmorphism including septate nasal cartilage with high nasal bridge; congenital heart defects, most commonly a septal defect; an

A syndromic microphthalmia characterized by ocular defects including microphthalmia, microcornea, and congentital cataract; facial dysmorphism including septate nasal cartilage with high nasal bridge; congenital heart defects, most commonly a septal defect; and dental anomalies, most commonly persistent primary teeth and radiculomegaly that has_material_basis_in mutation in the BCL6 corepressor gene on chromosome Xp11.

Signs and symptoms

• Delayed eruption of teeth
• Developmental cataract
• Microphthalmia
• Long philtrum
• Contracture of the proximal interphalangeal joint of the 2nd toe
• Contracture of the proximal interphalangeal joint of the 3rd toe
• Persistence of primary teeth
• Radiculomegaly
• Prominent nasal bridge
• Broad nasal tip

Also known as: ANOP2; MAA2; MCOPS2; OFCD syndrome; cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome