Show Summary Details
Page of

Peters Plus Syndrome 

Peters Plus Syndrome
Peters Plus Syndrome

Saskia A. J. Lesnik Oberstein

, Martine J. Van Belzen

, and Raoul C. M. Hennekam

Page of

PRINTED FROM OXFORD MEDICINE ONLINE ( © Oxford University Press, 2021. All Rights Reserved. Under the terms of the licence agreement, an individual user may print out a PDF of a single chapter of a title in Oxford Medicine Online for personal use (for details see Privacy Policy and Legal Notice).

date: 04 March 2021

Peters Plus syndrome (PPS) is a multiple congenital malformation syndrome characterized by abnormalities of the anterior chamber of the eye, disproportionate short stature and characteristic facial signs. Multiple other congenital malformations, such as cleft lip/palate, and a variable developmental delay are associated with PPS. PPS follows an autosomal recessive pattern of inheritance and is caused by loss-of-function mutations in B3GALTL.No genetic heterogeneity is known in PPS. B3GALTL encodes the B3GALTL protein, a glucosyltransferase. Therefore, PPS is one of the large group of congenital disorders of glycosylation. The prevalence of PPS is unknown, but ~100 patients have been reported in the literature to date, from varying ethnic backgrounds.

Access to the complete content on Oxford Medicine Online requires a subscription or purchase. Public users are able to search the site and view the abstracts for each book and chapter without a subscription.

Please subscribe or login to access full text content.

If you have purchased a print title that contains an access token, please see the token for information about how to register your code.

For questions on access or troubleshooting, please check our FAQs, and if you can't find the answer there, please contact us.