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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.
10 Arbeidsdager
Spesifikasjoner
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | hår, blod EDTA, blodheparin, sæd, vev |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | |
| Year Published |
Generell informasjon
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.
Kliniske egenskaper
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.
Tilleggsinformasjon
Referanser
Pubmed ID: 25637337
Omia ID: 1982