OMIA:000360-9913 : Facial digital syndrome in Bos taurus (taurine cattle) |
Categories: Craniofacial phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 101200 (trait)
Single-gene trait/disorder: unknown
Disease-related: yes
Cross-species summary: acrocephalo-syndactyly similar to Apert Syndrome
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)
Breed:
Angus (Cattle) (VBO_0000104).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2022). OMIA:000360-9913: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
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. |
Edit History
- Created by Frank Nicholas on 06 Sep 2005
- Changed by Frank Nicholas on 18 Oct 2011
- Changed by Imke Tammen2 on 31 Oct 2022