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spondyloepimetaphyseal dysplasia-hypotrichosis syndrome

Disease Summary
Associated Targets (0)

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Mondo Description 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.
Mondo Term and Equivalent IDs
MONDO:0008469:  spondyloepimetaphyseal dysplasia-hypotrichosis syndrome
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found