Categories: Craniofacial phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 101200 (trait)

Mendelian 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).