Rare Zebra

Rare disease search prototype built on Orphanet data

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ORPHA:2962

De Barsy syndrome

Also called Cutis laxa-corneal clouding-intellectual disability syndrome, Progeroid syndrome, De Barsy type

Body system
Skin diseases
Inheritance pattern
Autosomal recessive
Typical age of onset
Antenatal, Infancy, Neonatal
Estimated prevalence
<1 / 1 000 000 (Worldwide)
Rarity class
<1 / 1 000 000

ORPHA:2962 is classified under "Skin diseases" in the Orphanet nomenclature.

Common signs

  • Hypernasal speech
  • Talipes equinovarus
  • Premature rupture of membranes
  • Talipes calcaneovalgus
  • Athetosis
  • Wormian bones