De Barsy syndrome

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: De Barsy syndrome, cutis laxa-corneal clouding-intellectual disability syndrome, progeroid syndrome, De Barsy type, autosomal recessive cutis laxa type III, corneal clouding, cutis laxa and intellectual disability, corneal clouding, cutis laxa and mental retardation, cutis laxa growth deficiency syndrome, progeroid syndrome of de Barsy

0 clinical trials for this condition and its sub-types, 0 tagged with De Barsy syndrome itself.