Peters plus syndrome
Synonyms: Krause-Kivlin syndrome | Krause-van Schooneveld-Kivlin syndrome | Peters anomaly with short limb dwarfism
Peters plus syndrome is an autosomal recessively inherited syndromic developmental defect of the eye (see this term) characterized by a variable phenotype including Peters anomaly (see this term) and other anterior chamber eye anomalies short limbs limb abnormalities (i.e. rhizomelia and brachydactyly) characteristic facial features (upper lip with cupid bow short palpebral fissures) cleft lip/palate and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart absence of right pulmonary vein bicuspid pulmonary valve) genitourinary anomalies (hydronephrosis renal hypoplasia renal and ureteral duplication multicystic dysplastic kidneys glomerulocystic kidneys) and congenital hypothyroidism.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
Newly diagnosed with
Peters plus syndrome?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Advocacy Organizations
CDG CARE
Our mission is to promote greater awareness and understanding of CDG & NGLY1-Deficiency, to provide information and support to families affected by CDG & NGLY1, and to advocate for and fund scientific research to advance the diagnosis and treatment of CDG & NGLY1-Deficiency.
DDX3X Foundation
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
Clinical Trials
For a list of clinical trials in this disease area, please click here.