De Barsy syndrome

De Barsy syndrome
Other namesCutis laxa-corneal clouding-intellectual disability syndrome
De Barsy syndrome is inherited in an autosomal recessive manner.
Usual onsetInfancy

De Barsy syndrome is a rare autosomal recessive genetic disorder. Symptoms include cutis laxa (loose hanging skin) as well as other eye, musculoskeletal, and neurological abnormalities. It is usually progressive, manifesting side effects that can include clouded corneas, cataracts, short stature, dystonia, or progeria (premature aging).

Alternative names for De Barsy syndrome include cutis laxa-corneal clouding-intellectual disability syndrome, cutis laxa-growth deficiency syndrome, De Barsy–Moens–Diercks syndrome, and progeroid syndrome of De Barsy.

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