Fragile Foal Syndrome: Understanding Its Genetic Basis and Implications for Equine Breeding Practices

Abstract

Fragile Foal Syndrome (FFS) is a fatal autosomal recessive inherited disorder initially seen in some warmblood horses, but since has been identified in other breeds such as Thoroughbreds. It is a point mutation in the PLOD1 gene, which is responsible for both collagen production as well as maintaining the integrity of connective tissue. This mutation results in the interference of the collagen synthesis, resulting in deadly physical deformities, such as hyperextensible skin and hypermobile joints, which results in death within hours.