Handigodu Joint Disease

Description

Handigodu disease is a autosomal dominant spondyloepimetaphyseal dysplasia prevalent in a few villages of 2 districts of the state of Karnataka in southern India (Agarwal et al., 1994).

Clinical Features

Handigodu disease is a progressive disorder of the skeletal system, predominantly involving the hip joints and spine, with onset in late childhood or young adulthood, which ultimately leads to significant handicap with flexion deformity of hips, lumbar lordosis, waddling gait, and difficulty in squatting and sitting cross-legged. Three main groups of clinical presentations have been identified. The first consists of average height individuals with predominantly osteoarthritic changes of the hip joints. Most affected persons belong to a second group, consisting of short-statured individuals in whom arm span exceeds height. The third group presents with dwarfism and in these persons involvement of the spine is more severe. The radiologic changes are typically those of spondyloepiphyseal dysplasia plus modeling deformities of the lower femoral metaphysis, broadening and shortness of the femoral necks, and, in some instances, widening of the lower ends of radius and ulna. The hip joints show dysplastic changes, such as flattening and mushrooming of the femoral heads, broad short necks, and coxa vara. Many affected persons have decreased joint spaces, together with sclerotic and cystic changes which are suggestive of associated osteoarthritis. The changes in the spine, which present in about 75% of affected persons, were marked platyspondyly, posterior vertebral humping, and anterior disc space widening (Agarwal et al. (1994, 1997)).

Agarwal et al. (1997) noted that the clinical and radiographic manifestations of Handigodu joint disease are similar to those of Mseleni joint disease (613342) and suggested that they may represent the same entity.

Inheritance

The pedigree pattern in families with Handigodu joint disease indicates autosomal dominant inheritance (Agarwal et al. (1994, 1997)). Agarwal et al. (1997) suggested that the dwarfed individuals with widespread changes may represent the most severe phenotypic expression of the same mutated gene or homozygosity for the mutated gene.