Heritable syndrome of skeletal defects in a family of Australian shepherd dogs

J Hered. 1985 Sep-Oct;76(5):393-4.


A syndrome of multiple defects including cleft palate, polydactyly, and often syndactyly, shortened tibia-fibula, brachygnathism and scoliosis lethal to males is described in a family of Australian shepherd dogs. Female pups lack the cleft palate and survive, but may exhibit the other defects to a lesser degree than do males. Litter data suggest that the trait is inherited as an X-linked lethal gene, but the possibility of a sex-influenced autosomal allele cannot be ruled out. The syndrome may have arisen in conjunction with instability of the merle locus.

MeSH terms

  • Animals
  • Bone and Bones / abnormalities*
  • Congenital Abnormalities / veterinary*
  • Dog Diseases / genetics*
  • Dogs
  • Female
  • Genes, Lethal
  • Male
  • Sex Factors