Peters plus syndrome

Disease Overview

Peters plus syndrome (PPS) affects many different parts of the body. The most common affected parts are the eyes. PPS causes abnormal development of the structures in the front of the eye, known as Peters anomaly. Other symptoms include limited growth, short limbs, cleft lip and/or palate, distinctive face, and developmental or intellectual disability. Less common symptoms may include heart and kidney abnormalities. The severity of symptoms varies from person to person. Because PPS has only been reported in a small number of people, it is not clear how this condition changes with age. PPS is caused by a variant in the B3GLCT gene and is inherited in an autosomal recessive fashion. Diagnosis is based on the symptoms, clinical exam, and confirmed by the results of genetic testing. Treatment is focused on managing the symptoms, and may involve surgery to correct the eyes.[1031][15857][15858][15859]

Synonyms

• Peters anomaly with short limb dwarfism
• Krause-Kivlin syndrome