Spondyloepimetaphyseal Dysplasia, Sponastrime Type

**Semantic type:** Disease or Syndrome

**Definition:** A rare disorder characterized by severe short stature, lumbar lordosis, midface hypoplasia, micromelia, frontal bossing, epiphyseal and metaphyseal abnormalities. The inheritance is autosomal recessive.

**Synonyms:** - Short Limb Dwarfism-Saddle Nose-Spinal Alterations-Metaphyseal Striation Syndrome - Short-Limb Dwarfism with Saddle Nose, Spinal Alterations, and Metaphyseal Striation - Sponastrime Dysplasia