label: Spondyloepimetaphyseal Dysplasia, Sponastrime Type
label_lc: spondyloepimetaphyseal dysplasia, sponastrime type
description: A rare disorder characterized by severe short stature, lumbar lordosis, midface hypoplasia, micromelia, frontal bossing, epiphyseal and metaphyseal abnormalities. The inheritance is autosomal recessive.