Congenital factor XIII deficiency

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Congenital factor XIII deficiency

ORPHA:331Disease

Also called Fibrin-stabilizing factor deficiency

What it is

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.

Key facts

Prevalence
<1 / 1 000 000 (Europe)
Age of onset
All ages
Inheritance
Autosomal recessive, Not applicable
Classified as
Disease

Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.

Signs and symptoms

These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.

Genes

F13A1Disease-causing germline mutation(s)
F13BDisease-causing germline mutation(s)

ICD-10 codes

D68.2filed under a broader ICD-10 category — shared with 13 other rare diseases

ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.

Related health topics

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Cross-references

GARD 10766MEDDRA 10016083MESH D005177MONDO 0018029OMIM 613225OMIM 613235UMLS C0015530

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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