De Barsy syndrome
De Barsy syndrome
Definition
A rare autosomal recessive genetic disorder characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract.
Also known as cutis laxa-corneal clouding-intellectual disability syndrome, De Barsy syndrome, progeroid syndrome, De Barsy type — per MONDO