De Barsy syndrome

Introduction

Originally described as form of cutis laxa

Genetics

• autosomal recessive
• mutations of either PYCR1 or ALDH18A1

Clinical manifestations

• prematurely-aged appearance
• cutis laxa (skin laxity)
• developmental delay
• corneal opacity
• mental retardation
• athetosis
• skeletal anomalies
  • adducted thumb
  • congenital hip dislocation
  • brachycephaly

More general terms

• progeroid syndrome
• cutis laxa; elastolysis; loose skin; pachydermatocele