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Diseases

Genetic and Rare Diseases Information Center (GARD)

Peters plus syndrome


Other Names for this Disease
  • Peters anomaly with short limb dwarfism
  • Krause-Kivlin syndrome
Related Diseases
  • Congenital disorder of glycosylation with developmental anomaly
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Tests & Diagnosis

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Is genetic testing available for Peters plus syndrome?

Genetic testing is available for Peters plus syndrome, including carrier screening for at-risk family members and prenatal diagnosis for pregnancies at increased risk, if the disease-causing mutations in the family are known.[1] To learn more about the various options available to you, we recommend you work with your healthcare provider and/or a genetics professional.
Last updated: 7/21/2016

References
  1. 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/.


Testing

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Other Names for this Disease
  • Peters anomaly with short limb dwarfism
  • Krause-Kivlin syndrome
Related Diseases
  • Congenital disorder of glycosylation with developmental anomaly
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.