OMIM 261540 | ||
Krause–van Schooneveld–Kivlin syndrome is a hereditary syndrome that mainly affects the eyes, growth and development of the individual. It is also known as Krause–Kivlin syndrome or Peters-plus syndrome.
Features of this syndrome include Peters anomaly, leukoma (corneal opacity), central defect of Descemet's membrane, and shallow anterior chamber with synechiae between the iris and cornea. It is associated with short limb dwarfism and delayed mental development.
Krause–van Schooneveld–Kivlin syndrome is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH), which means that the syndrome, or a subtype, affects fewer than 200,000 people in the United States.
It is associated with the enzyme B3GALTL.
It was characterized in 1984 by van Schooneveld.