• Autosomal dominant (Beukes) premature degenerative osteoarthropathy of the hip joint unlinked to COL2A1
• Identification of a mutation in the ubiquitin-fold modifier 1-specific peptidase 2 gene, UFSP2, in an extended South African family with Beukes hip dysplasia
• Mucopolysaccharidoses and other lysosomal storage diseases
• Novel mutation in Teneurin 3 found to co-segregate in all affecteds in a multi-generation family with developmental dysplasia of the hip
• Variant of the catalytic cysteine of UFSP2 leads to spondyloepimetaphyseal dysplasia type Di Rocco