Learn About De Barsy Syndrome

What is the definition of De Barsy Syndrome?
De Barsy syndrome is a rare genetic disorder originally described in 1968 and classified as a form of cutis laxa. Cutis laxa is characterized by skin that is loose (lax), wrinkled, sagging, and lacking elasticity. The specific symptoms and the severity of De Barsy syndrome can vary greatly. Features that may be seen include eye abnormalities, growth abnormalities, and a prematurely-aged appearance. Distinctive facial features, skeletal malformations, and neurological abnormalities may also occur. Some cases of De Barsy syndrome have been linked to genetic changes in either the PYCR1 or ALDH18A1 genes. De Barsy syndrome is inherited in an autosomal recessive manner.
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What are the alternative names for De Barsy Syndrome?
  • De Barsy syndrome
  • Corneal clouding, cutis laxa and intellectual disability
  • Cutis laxa growth deficiency syndrome
  • Cutis laxa-corneal clouding-intellectual disability syndrome
  • Progeroid syndrome of De Barsy
  • Progeroid syndrome, De Barsy type
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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center

What are the Latest Advances for De Barsy Syndrome?
A proposal of rehabilitative approach in the rare disease "De Barsy Syndrome": case report.
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