De Barsy syndrome

Disease Overview

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. [4599] Some cases of De Barsy syndrome have been linked to mutations in either the PYCR1 or ALDH18A1 genes. De Barsy syndrome is inherited in an autosomal recessive manner. [4599][12400][12401] There are no standardized treatment protocols; treatment generally focuses on the signs and symptoms present in each individual.[4599]

Synonyms

• Corneal clouding, cutis laxa and intellectual disability
• Progeroid syndrome of De Barsy
• Cutis laxa growth deficiency syndrome
• Progeroid syndrome, De Barsy type
• Cutis laxa-corneal clouding-intellectual disability syndrome