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Other Names for this Disease
- ANOP2 (formerly)
- MAA2 (formerly)
- Microphthalmia cataracts radiculomegaly and septal heart defects
- Microphthalmia syndromic 2
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glaucoma, cleft palate, delayed loss of baby teeth, missing or abnormally small teeth, misaligned teeth, and defective tooth enamel. Eye symptoms may involve one or both eyes.Oculofaciocardiodental syndrome is caused by mutations in the BCOR gene and is inherited in an X-linked dominant fashion.Oculofaciocardiodental syndrome is a genetic syndrome that affects the eyes, heart, face, and teeth. Common signs and symptoms include abnormally small deep-set eyes, cataracts, long narrow face, a broad nasal tip that is divided by a cleft, heart defects, and teeth with very large roots. Other signs and symptoms include
Last updated: 12/21/2012
- Oculofaciocardiodental syndrome. Genetics Home Reference. May 2008; http://ghr.nlm.nih.gov/condition/oculofaciocardiodental-syndrome. Accessed 12/21/2012.
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- Genetics Home Reference (GHR) contains information on Oculofaciocardiodental syndrome. This website is maintained by the National Library of Medicine.
In Depth Information
- The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Oculofaciocardiodental syndrome. Click on the link to view a sample search on this topic.