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

Genetic engineering: Unknown
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)

Breed: 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