Ovine heritable arthrogryposis multiplex congenita with probable lethal autosomal recessive mutation

J Comp Pathol. 2010 Jul;143(1):14-9. doi: 10.1016/j.jcpa.2009.12.015. Epub 2010 Feb 13.


A novel congenital syndrome in lambs is described that is characterized by: (1) kyphoscoliosis (severe curvature, hunching and twisting of the thoracic spine, with associated abnormalities of the ribs and sternum), (2) distal arthrogryposis of the carpal and tarsal joints, and (3) cleft hard and soft palate or palatoschisis (a median fissure of the palate). Male and female lambs are affected equally and in multiple births there may be only one affected lamb. The affected lambs are born full term, but die shortly after birth because they are unable to start breathing. Affected lambs have slightly reduced bodyweight (due to low muscle mass) compared with normal newborn lambs of the same flock. The syndrome is remarkably similar to the recently described bovine heritable arthrogryposis multiplex congenita in the Angus breed. Genetic analysis of the flock by means of DNA microsatellite markers, together with study of the reproductive management of the flock, allowed us to discount an environmental aetiology (e.g. intoxications or infections). In contrast, evidence supports an autosomal recessive inherited disease for which the name ovine heritable arthrogryposis multiplex congenita is proposed.

MeSH terms

  • Animals
  • Arthrogryposis / genetics
  • Arthrogryposis / veterinary*
  • Cleft Palate / genetics
  • Cleft Palate / veterinary*
  • Female
  • Kyphosis / congenital
  • Kyphosis / genetics
  • Kyphosis / veterinary*
  • Male
  • Microsatellite Repeats
  • Mutation
  • Pedigree
  • Scoliosis / congenital
  • Scoliosis / genetics
  • Scoliosis / veterinary*
  • Sheep
  • Sheep Diseases / genetics*
  • Syndrome