Fragile Foal Syndrome / WFFS / FFS type 1 (PLOD1-related) - Horse

What does this test analyse?

This genetic test analyses the PLOD1 variant c.2032G>A, known as the cause of Warmblood Fragile Foal Syndrome, WFFS, Fragile Foal Syndrome, FFS type 1 and PLOD1-related kEDS.

The disorder affects connective tissue. Affected foals have extremely thin, fragile skin and mucous membranes, may show open wounds, hypermobile joints, floppy ears, fluid accumulation or premature birth, and are usually not viable.

Why is this test useful?

WFFS is autosomal recessive. Carriers are healthy themselves, but two carriers can produce an affected foal. This makes the test directly useful before breeding: the result shows which mating combinations are safe and which combinations carry a real risk.

Practical value of this test

• Breeders can avoid carrier x carrier matings and prevent the birth of affected foals.
• The test supports stallion choice, mare selection and breeding advice in warmblood, sport horse and Thoroughbred lines.
• A carrier does not automatically need to be excluded from breeding; with a clear partner, breeding can be planned responsibly.
• The result gives clear information for sale, breeding contracts, studbook communication and planning future combinations.
• In cases of reproductive loss, abortion, stillbirth or fragile foals, the test can help confirm or exclude a hereditary cause.

Inheritance and result

The result is reported as N/N, N/WFFS or WFFS/WFFS. N/N means that the variant was not detected. N/WFFS means carrier: clinically healthy, but able to pass the variant on. WFFS/WFFS causes Fragile Foal Syndrome type 1 and is a severe, usually fatal outcome in foals.