Peters-plus syndrome

Peters-plus syndrome
Classification and external resources
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.[1]

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.[2]

It is associated with the enzyme B3GALTL.[3]

It was characterized in 1984 by van Schooneveld.[4]

See also

References

  1. ↑ "Krause–Kivlin syndrome'". U. S. National Library of Medicine Congenital Syndromes Database Archives. NIH. Retrieved 3 August 2012.
  2. ↑ "Peters plus syndrome". Genetic and Rare Diseases Information Center (GARD). NIH. Retrieved 3 August 2012.
  3. ↑ Aliferis K, Marsal C, Pelletier V, et al. (December 2010). "A novel nonsense B3GALTL mutation confirms Peters plus syndrome in a patient with multiple malformations and Peters anomaly". Ophthalmic Genet. 31 (4): 205–8. doi:10.3109/13816810.2010.512355. PMID 21067481.
  4. ↑ van Schooneveld MJ, Delleman JW, Beemer FA, Bleeker-Wagemakers EM (December 1984). "Peters'-plus: a new syndrome". Ophthalmic Paediatr Genet 4 (3): 141–5. doi:10.3109/13816818409006113. PMID 6443615.

External links

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