Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome

A rare primary bone dysplasia disorder characterized by congenital hypotrichosis associated with rhizomelic short stature (more pronounced in upper limbs than lower limbs), limited hip abduction and mild genu varum. Flared and irregular metaphyses, delayed and irregular epiphiseal ossification and pear-shaped vertebral bodies are characteristic radiologic findings.

Also known as: Whyte Petersen McAlister syndrome, Whyte syndrome, spondyloepimetaphyseal dysplasia with hypotrichosis

0 clinical trials for this condition and its sub-types, 0 tagged with Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome itself.