Rare Zebra

Rare disease search prototype built on Orphanet data

← Back to search

ORPHA:743

Severe hereditary thrombophilia due to congenital protein S deficiency

Also called Autosomal recessive thrombophilia due to congenital protein S deficiency

Body system
Bone diseases
Inheritance pattern
Autosomal recessive
Typical age of onset
Infancy, Neonatal
Estimated prevalence
Unknown (Worldwide)
Rarity class
Unknown

ORPHA:743 is classified under "Bone diseases" in the Orphanet nomenclature.

Common signs

  • Purpura
  • Retinopathy
  • Thin skin
  • Subcutaneous hemorrhage
  • Deep venous thrombosis
  • Thrombophlebitis