Peters plus syndrome
Other Names for this Disease
- Peters anomaly with short limb dwarfism
- Krause-Kivlin syndrome
- Congenital disorder of glycosylation with developmental anomaly
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short stature, cleft lip with or without cleft palate, and distinctive facial features. The most common eye abnormality is Peters anomaly, which involves the thinning and clouding of the cornea and attachment of the iris to the cornea causing blurred vision. Other eye abnormalities, such as glaucoma and cataracts are also common. The severity of symptoms may vary from person to person. It is caused by mutations in the B3GLCT gene and is inherited in an autosomal recessive fashion. Treatment varies based on the severity of the symptoms; however, regular appointments with an ophthalmologist and avoidance of agents that increase the risk of glaucoma (e.g., corticosteroids) is recommended.Peters plus syndrome is a genetic condition characterized by abnormalities of the front part of the eye called the anterior chamber,
Last updated: 7/21/2016
- Peters plus syndrome. Genetics Home Reference. September 2013; https://ghr.nlm.nih.gov/condition/peters-plus-syndrome.
- Saskia AJ Lesnik Oberstein, MD, PhD, Martine van Belzen, PhD, and Raoul Hennekam, MD, PhD.. Peters Plus Syndrome. GeneReviews. January 23, 2014; http://www.ncbi.nlm.nih.gov/books/NBK1464/.
- Genetics Home Reference (GHR) contains information on Peters plus syndrome. This website is maintained by the National Library of Medicine.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a 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 Peters plus syndrome. Click on the link to view a sample search on this topic.