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Naked Foal Syndrome (NFS) is a rare inherited genetic disorder affecting Akhal-Teke horses.
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Specifications
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 7 |
| Mutation | c.388G>T |
| Organ | |
| Specimen | Hair, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | NFS |
General information
Naked Foal Syndrome (NFS) is a rare inherited genetic disorder affecting Akhal-Teke horses. It is caused by a disease-causing variant in the ST14 gene, which plays an important role in skin development, hair follicle formation, and maintenance of the skin barrier. The condition is inherited as an autosomal recessive disorder, meaning affected foals inherit two copies of the variant, one from each parent. The ST14 variant disrupts normal skin and hair coat development, resulting in congenital hairlessness and a range of associated health problems.
Clinical features
Affected foals are born with little or no hair (congenital alopecia) and may develop dry, thickened, and scaly skin (ichthyosis). Other clinical signs may include abnormal tooth development, digestive problems such as persistent diarrhoea, poor body condition and hoof abnormalities with laminitis-like changes. Clinical signs are present from birth or become apparent during the first weeks of life. The condition is often severe, and many affected foals die within the first weeks to months due to complications associated with the disorder. However, rare cases with longer survival have been reported.
Additional information
References
Pubmed ID: 28235824
Year published: 2017
Omia ID: 2096
Omia variant ID: