spondyloepimetaphyseal dysplasia-hypotrichosis syndrome https://github.com/monarch-initiative/mondo/issues/5280 https://www.malacards.org/card/spondyloepimetaphyseal_dysplasia_with_hypotrichosis UMLS:C1866728 MEDGEN:357120 Whyte Petersen McAlister syndrome Orphanet:168443 GARD:0010101 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:0008469 OMIM:183849 MESH:C535783 spondyloepiphyseal dysplasia spondyloepimetaphyseal dysplasia