/de Barsy syndrome

de Barsy syndrome

Rare Disease

MONDO:0017569

Also Known As

De Barsy syndromecutis laxa-corneal clouding-intellectual disability syndromeprogeroid syndrome, De Barsy typeautosomal recessive cutis laxa type IIIcorneal clouding, cutis laxa and intellectual disabilitycorneal clouding, cutis laxa and mental retardationcutis laxa growth deficiency syndromeprogeroid syndrome of de Barsyprogeroid syndrome, de Barsy type

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.