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Warmblood Fragile Foal Syndrome (WFFS) type I, also known as Foal Fragile Syndrome (FFS) type I, is a fatal genetic disorder that affects connective tissue.

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Specifiche

Breeds

,

Gene

Organ

specimen

Pelo, Sangue in EDTA, Sangue in Eparina, Seme, Tessuto

Mode of Inheritance

Chromosome

Also known as

Year Published

Informazioni generali

Warmblood Fragile Foal Syndrome (WFFS) type I, also known as Foal Fragile Syndrome (FFS) type I, is a fatal genetic disorder that affects connective tissue. The condition causes hyperextensible, exceptionally thin, and fragile skin along with delicate mucous membranes, making them highly prone to developing open lesions. It is caused by an autosomal recessive mutation in the PLOD1 gene, which encodes an enzyme essential for collagen production. The FFS mutation primarily occurs in warmblood breeds and is present at a low frequency in thoroughbreds.

Caratteristiche cliniche

WFFS is characterized by hyperextension in joints, abnormally thin, fragile skin and mucous membranes. This leads to extensive lesions throughout the body. Affected horses may also develop floppy ears, hyperextensible limb joints, hematomas, seromas, hydrops (accumulation of fluid in the fetus) and emphysema (air under the skin). Many foals with WFFS are born prematurely, are stillborn, or result in late-term abortions. Newborn foals diagnosed with WFFS typically have a poor prognosis and are humanely euthanized due to the untreatable nature of the condition.

Informazioni aggiuntive

Riferimenti

Pubmed ID: 25637337

Omia ID: 1982

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