De Barsy syndrome (DBS) is a rare autosomal recessive (AR) genetic disorder characterized by cutis laxa, corneal clouding, craniofacial dysmorphism giving rise to a progeroid appearance, and musculoskeletal abnormalities. Intrauterine growth retardation and postnatal failure to thrive, motor development delay, hypotonia, athetoid movements, cognitive impairment, and intellectual disability are further features.

DBS is caused by mutations in either the ALDH18A1 gene on chromosome 10q24.1 (DBS type A, with autosomal recessive cutis laxa type 3A) or the PYCR1 gene on chromosome 17q25.3 (DBS type B, autosomal recessive cutis laxa type 3B).

Patients with this rare disorder have origins in South America, Europe, China, New Zealand, and the Middle East.