Krause-Kivlin syndrome
Encyclopedia
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, 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). This means that Krause-van Schooneveld-Kivlin syndrome, or a subtype of Krause-van Schooneveld-Kivlin syndrome, affects fewer than 200,000 people in the United States.
It is associated with B3GALTL
.
It was characterized in 1984 by van Schooneveld.
Syndrome
In medicine and psychology, a syndrome is the association of several clinically recognizable features, signs , symptoms , phenomena or characteristics that often occur together, so that the presence of one or more features alerts the physician to the possible presence of the others...
that mainly affects the eyes, growth
Human development (biology)
Human development is the process of growing to maturity. In biological terms, this entails growth from a one-celled zygote to an adult human being.- Biological development:...
and development
Child development
Child development stages describe theoretical milestones of child development. Many stage models of development have been proposed, used as working concepts and in some cases asserted as nativist theories....
of the individual. It is also known as Krause-Kivlin syndrome or Peters-plus syndrome .
Features of this syndrome include Peters anomaly, leukoma, central defect of Descemet's membrane
Descemet's membrane
Descemet's membrane is the basement membrane that lies between the corneal proper substance, also called stroma, and the endothelial layer of the cornea. It is composed of a different kind of collagen than the stroma. The endothelial layer is located at the posterior of the cornea...
, and shallow anterior chamber with synechiae
Synechia
A synechia is an eye condition where the iris adheres to either the cornea or lens . Synechiae can be caused by ocular trauma, iritis or iridocyclitis and may lead to certain types of glaucoma...
between the iris and cornea. It is associated with short limb dwarfism
Dwarfism
Dwarfism is short stature resulting from a medical condition. It is sometimes defined as an adult height of less than 4 feet 10 inches , although this definition is problematic because short stature in itself is not a disorder....
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
National Institutes of Health
The National Institutes of Health are an agency of the United States Department of Health and Human Services and are the primary agency of the United States government responsible for biomedical and health-related research. Its science and engineering counterpart is the National Science Foundation...
(NIH). This means that Krause-van Schooneveld-Kivlin syndrome, or a subtype of Krause-van Schooneveld-Kivlin syndrome, affects fewer than 200,000 people in the United States.
It is associated with B3GALTL
B3GALTL
Beta-1,3-glucosyltransferase is an enzyme that in humans is encoded by the B3GALTL gene.-External Links:* * -Further reading:...
.
It was characterized in 1984 by van Schooneveld.