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Genetic and Rare Diseases Information Center (GARD)

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Knobloch syndrome

Other Names for this Disease
  • Myopia retinal detachment encephalocele
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What are the signs and symptoms of Knobloch syndrome?

The three main features of Knobloch syndrome are severe nearsightedness (myopia), recurrent retinal detachment, and encephalocele. The severe myopia develops early on in life, and it is usually diagnosed within the first year of life. Affected individuals may have additional eye abnormalities, such as congenital cataracts. An encephalocele is a sac-like protrusion of the brain through an opening in the skull. A variety of other signs and symptoms have been described in affected individuals. Intelligence is not affected by Knobloch syndrome.[1]
Last updated: 4/5/2010

  1. Knobloch syndrome. Orphanet. September 2008; Accessed 4/5/2010.