Inherited chondrodysplasia in Texel sheep.

CASE HISTORY: A skeletal disease characterised by dwarfism, limb deformity and sometimes sudden death occurred over a period of 5 years in lambs born on a commercial sheep farm in Southland. The disease showed variable expression and occurred in crossbred sheep. A genetic aetiology was supported by the birth of affected lambs over two seasons in a flock of putative carrier and affected sheep transported to Massey University. CLINICAL FINDINGS: Affected lambs appeared normal at birth but showed evidence of dwarfism, wide-based stance and exercise intolerance as early as 1 week of age. Most died within the first 3 months of life, often after developing bilateral varus deformity of the forelimbs. Some severely-affected lambs died suddenly of respiratory embarrassment, probably due to tracheal collapse. Mildly-affected individuals had a short, blocky stature and some survived to breeding age. PATHOLOGICAL FINDINGS: Gross and microscopic lesions of variable severity were present in the tracheal, articular, epiphyseal and physeal cartilages. In severe cases, articular cartilage in major joints was eroded from weight-bearing surfaces. The trachea was flaccid, abnormally kinked, and had thickened cartilaginous rings and a narrow lumen. Affected sheep that survived to breeding age eventually developed severe degenerative joint disease. Histologically, chondrocytes were disorganised, surrounded by concentric rings of abnormal fibrillar material, and the matrix often contained focal to coalescing areas of chondrolysis. DIAGNOSIS: Inherited chondrodysplasia of Texel sheep. CLINICAL RELEVANCE AND CONCLUSIONS: This chondrodysplasia differs from those previously described in sheep and is considered to be a newly-recognised, recessively-inherited genetic disease of the Texel breed. A defect in the synthesis of glycosaminoglycans in cartilage matrix is suspected. This disease of sheep may provide a suitable model for studying various forms of therapy for human chondrodysplasias.

Chondrodysplasia of Texel sheep - a new disease of suspected genetic aetiology (abstract).

A chondrodysplasia characterised by dwarfism and varus deformity of the forelimbs has been recognised over four seasons in Texel and Texel-cross lambs on three related properties. Affected lambs appear normal at birth, but by 2 weeks of age have reduced growth rate, shortened neck and legs, varus forelimb deformities and a progressive reluctance to walk. Most die within the first 4 months of life. Some affected lambs have had normal co-twins. Post mortem examination of two severely affected 3-month-old lambs revealed extensive loss of articular cartilage and exposure of subchondral bone on the weight-bearing surfaces of the proximal humeri and femurs. Articular and physeal cartilages were thicker than normal, suggesting delayed or impaired endochondral ossification. Histopathologically, there was disorganisation of chondrocytes in articular and physeal cartilage of all bones examined. In addition, there were multiple foci of chondrolysis, which coalesced in some areas to form large clefts. The chondroid matrix surrounding chondrocytes had an abnormal fibrillar appearance. One lamb that exhibited early signs of the disease died of an unrelated cause at 3 weeks of age, and although there was no erosion of articular cartilage, characteristic microscopic lesions were present in articular and physeal cartilage. Although most of the affected lambs were born on a commercial property with a mix of different sheep breeds, all had Texel genes on both sire and dam sides of the pedigree. The farmer had been purchasing his Texel rams from the same flock for several seasons. Circumstantial evidence favours a genetic aetiology, characterised by either autosomal recessive inheritance or over dominance. Studies on the genetic and biochemical basis of the disease are continuing.