OMIA:000360-9913 : Facial digital syndrome in Bos taurus (taurine cattle)
Categories: Craniofacial phene
Possibly relevant human trait(s) and/or gene(s) (MIM number): 101200 (trait)
Links to MONDO diseases: No links.
Mendelian trait/disorder: unknown
Considered a defect: yes
Cross-species summary: acrocephalo-syndactyly similar to Apert Syndrome
Have human generated variants been created, e.g. through genetic engineering and gene editing
Clinical features: Ojo et al. (1975) reported two Angus calves with facial hypoplasia with a single nasal cavity and a shortened upper jaw, syndactyly of all four feet and kyphoscoliosis. Both calves died within three hours of birth.
Pathology: Postmortem investigation identified missing olfactory tracts in the brains and marked internal hydrocephalus. Histopathological findings included "absence of a central canal, tilted ventral median fissure and abnormally shaped dorsal and ventral horns." (Ojo et al. 1975)
Angus (Cattle) (VBO_0000104).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below
Cite this entry
|1975||Ojo, S.A., Leipold, H.W., Guffy, M.M. :|
|Facial digital syndrome in purebred Angus cattle Veterinary Medicine and Small Animal Clinician 70:28-29, 1975. Pubmed reference: 164710.|
- Created by Frank Nicholas on 06 Sep 2005
- Changed by Frank Nicholas on 18 Oct 2011
- Changed by Imke Tammen2 on 31 Oct 2022