Congenital factor XIII deficiency
ORPHA:331· ICD-10 D68.2
Definition
A rare inherited bleeding disorder due to reduced coagulation factor XIII (FXIII) activity level and characterized by hemorrhagic diathesis, frequently associated with spontaneous abortions and defective wound healing. The disease may manifest at any age, but the most severe and life-threatening symptoms such as post-birth umbilical cord bleeding, cephalohematoma, and intracranial hemorrhage, manifest during the neonatal period.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal recessive, Not applicable
- Age of onset
- All ages