Spondyloepimetaphyseal dysplasia with hypotrichosis
Alternate names
Whyte syndrome; Whyte Petersen McAlister syndrome
Definition
Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome is 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.
NIH genetic and rare disease info
Spondyloepimetaphyseal dysplasia with hypotrichosis is a rare disease.
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