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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Tests & Diagnosis
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. 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
- 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/.
- 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.