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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Peters plus syndrome


Other Names for this Disease
  • Krause-Kivlin syndrome
  • Peters anomaly with short limb dwarfism
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Overview


Peters plus syndrome is a genetic condition characterized by abnormalities of the front part of the eye called the anterior chamber, 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 common. The severity of symptoms may vary from person to person. The only gene that has been associated with Peters plus syndrome is B3GALTL. The syndrome is inherited in an autosomal recessive fashion.[1] 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.[2]
Last updated: 8/10/2009

References

  1. Peters plus syndrome. Genetics Home Reference. March 2008; http://ghr.nlm.nih.gov/condition=petersplussyndrome. Accessed 3/9/2008.
  2. Peters Plus Syndrome. GeneReviews. October 8, 2007; http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=peters-plus. Accessed 3/9/2009.
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Basic Information

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 Peters plus syndrome. Click on the link to view a sample search on this topic.