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Diseases

Genetic and Rare Diseases Information Center (GARD)

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De Barsy syndrome


Other Names for this Disease
  • Corneal clouding, cutis laxa and mental retardation
  • Cutis laxa growth deficiency syndrome
  • Progeroid syndrome of De Barsy
  • Progeroid syndrome, De Barsy type
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Your Question

Are all of the people diagnosed with De Barsy syndrome intellectually delayed?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

Do all individuals with De Barsy syndrome have intellectual disability?

In a review article published in 2008, the authors state that of the reported cases of De Barsy syndrome in the literature, 76% of affected individuals were described as having developmental delay, which was severe in 48%. No individuals were reported to have normal development. However, the long-term developmental outcome was not available for many individuals because they either died in infancy or were reported in the first 2 years of life.[1]
Last updated: 10/31/2011

References
  • Kivuva EC, Parker MJ, Cohen MC, Wagner BE, Sobey G. De Barsy syndrome: a review of the phenotype. Clinical Dysmorphology. April 2008; 17(2):99-107.