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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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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 2 |
| Mutation | c.2032G>A |
| Mode of Inheritance | Autosomique récessif |
| Organ | |
| Specimen | Hair, Blood EDTA, Blood Heparin, Semen, Tissue |
| Also known as | FFS; WFFS |
Informations générales
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.
Caractéristiques cliniques
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.
Additional Information
Références
Pubmed ID: 25637337
Year published: 2015
Omia ID: 1982
Omia variant ID: 165