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Peters plus syndrome

Orpha number ORPHA709
Synonym(s) Krause-Kivlin syndrome
Krause-van Schooneveld-Kivlin syndrome
Peters anomaly with short limb dwarfism
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Neonatal
ICD-10
  • Q13.4
ICD-O -
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT
  • 449817000

Summary

Peters-plus syndrome is characterized by the association of Peters' congenital glaucoma with dwarfism, intellectual deficit, disorders of the ear and cleft palate. Peters' congenital glaucoma results from a genetic developmental disorder at the end of the third week of uterine life when the mesencephalic neural crests migrate. Trabecular dysgenesis causes glaucoma, which is generally bilateral. Descemet's membrane and the endothelium at the center of the cornea fail to develop, leading to opacities in the central cornea with iridocorneal synechia that stretches from the edge of the irides to the central opacity. The anterior chamber is narrow and may adhere to the lens. Cataract can be associated. Other possible signs include dysmorphic facies and hypospadias. Along with the treatment of glaucoma and cataract, total keratoplasty must be performed because of the affected cornea.

Expert reviewer(s)

  • Dr Olivier ROCHE

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Detailed information

Clinical genetics review
  • EN (2014)
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