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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
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Question

My daughter who had been diagnosed with Peter plus syndrome passed away. Is this condition genetic? If so, is there genetic testing available for it?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is Peters plus syndrome?

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

Is Peters plus syndrome genetic?

Peters plus syndrome is genetic and has been associated with mutations in the gene named B3GALTL.[1]
Last updated: 3/9/2009

How is Peters plus syndrome inherited?

Peters plus syndrome is inherited in an autosomal recessive fashion, which means that an individual needs to inherit two disease-causing mutations of the B3GALTL gene-one from each parent-in order to have symptoms of the condition. Parents of individuals with the condition typically do not show signs and symptoms of Peters plus syndrome.[1]
Last updated: 3/9/2009

Is there genetic testing available for Peters plus syndrome?

Genetic testing is available for Peters plus syndrome. Click here to obtain a list of clinical laboratories offering genetic testing.

Carrier testing for at-risk family members and prenatal diagnosis for pregnancies at increased risk are possible if the disease-causing mutations in the family are known. To learn more about the various options available to you, we recommend you work with your health care provider or a genetics professional to contact the laboratories offering prenatal testing.
Last updated: 3/11/2009

How can I find a genetics professional in my area?

Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.

The following online resources can help you find a genetics professional in your community:

Last updated: 11/27/2014

References
Other Names for this Disease
  • Krause-Kivlin syndrome
  • Peters anomaly with short limb dwarfism
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.