Peters-plus syndrome

Peters-plus syndrome or Krause–Kivlin syndrome is a hereditary syndrome defined by Peters' anomaly, dwarfism and mental retardation.[1][2]

Peters-plus syndrome
Other namesKrause–van Schooneveld–Kivlin syndrome
This condition is inherited in an autosomal recessive manner

Signs and symptoms

Features of this syndrome include Peters' anomaly, corneal opacity, central defect of Descemet's membrane, and shallow anterior chamber with synechiae between the iris and cornea.

Craniofacial abnormalities commonly seen in patients with PPS include hypertelorism, ear malformations, micrognathia, round face and broad neck, and cleft lip and palette.[1]

Infants are commonly born small for gestational age and have delayed growth. It is associated with short limb dwarfism and mild to severe mental retardation and autism spectrum disorder.[1]

Cause

It is associated with the enzyme B3GALTL. It is a defect of O-glycosylation.[1]

History

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).[3]

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

See also

References
  1. Smith's Recognizable Patterns of Human Malformation (7 ed.). Elsevier. 2013. pp. 752–795.
  2. "Krause–Kivlin syndrome'". U. S. National Library of Medicine Congenital Syndromes Database Archives. NIH. Retrieved 3 August 2012.
  3. "Peters plus syndrome". Genetic and Rare Diseases Information Center (GARD). NIH. Retrieved 3 August 2012.
  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.
Classification
External resources
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