Categories: Skeleton phene (incl. short stature & teeth)

Links to MONDO diseases: No links.

Mendelian trait/disorder: unknown

Considered a defect: yes

History: This disorder was first reported by Dantas et al. (2013)

Inheritance: Dantas et al. (2013) mentioned the possibility of autosomal incompletely dominant inheritance but no supporting data were provided.

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing

Clinical features: As reported by Dantas et al. (2013), "Dwarf lambs were much smaller than normal, with short legs, a domed head with retruded muzzle and protruded mandible, sternal deformities and exophthalmic eyes situated more laterally in the face than normal."

Prevalence: As reported by Dantas et al. (2013), " In a flock of 68 ewes and three rams of the Cabugi breed, 134 lambs were born over a 4-year period. Of these, 14 (10.4%) had marked cranial abnormalities and dwarfism and died or were humanely destroyed, 43 (32%) had a normal face and 77 (57.5%) had the short face characteristic of the breed".

Breed: Cabugi, Brazil (Sheep) (VBO_0016875).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below