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GTR Home > Conditions/Phenotypes > Oculofaciocardiodental syndrome

Oculofaciocardiodental syndrome

Synonyms
BCOR-Related Lenz Microphthalmia Syndrome; Microphthalmia cataracts radiculomegaly and septal heart defects; Syndromic Microphthalmia 2
Modes of inheritance
X-linked dominant inheritance (Orphanet)

Summary

Oculofaciocardiodental (OFCD) syndrome is a condition that affects the development of the eyes (oculo-), facial features (facio-), heart (cardio-) and teeth (dental). This condition occurs only in females.\n\nThe eye abnormalities associated with OFCD syndrome can affect one or both eyes. Many people with this condition are born with eyeballs that are abnormally small (microphthalmia). Other eye problems can include clouding of the lens (cataract) and a higher risk of glaucoma, an eye disease that increases the pressure in the eye. These abnormalities can lead to vision loss or blindness.\n\nPeople with OFCD syndrome often have a long, narrow face with distinctive facial features, including deep-set eyes and a broad nasal tip that is divided by a cleft. Some affected people have an opening in the roof of the mouth called a cleft palate.\n\nHeart defects are another common feature of OFCD syndrome. Babies with this condition may be born with a hole between two chambers of the heart (an atrial or ventricular septal defect) or a leak in one of the valves that controls blood flow through the heart (mitral valve prolapse).\n\nTeeth with very large roots (radiculomegaly) are characteristic of OFCD syndrome. Additional dental abnormalities can include delayed loss of primary (baby) teeth, missing or abnormally small teeth, misaligned teeth, and defective tooth enamel. [from MedlinePlus Genetics]

Available tests

63 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (63 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ANOP2, MAA2, MCOPS2, BCOR
    Summary: BCL6 corepressor

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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