Metatropic dysplasia

Definition

Metatropic dysplasia (MTD) is a rare spondyloepimetaphyseal dysplasia characterized by a long trunk and short limbs in infancy followed by severe and progressive kyphoscoliosis causing a reversal in proportions during childhood (short trunk and long limbs) and a final short stature in adulthood.

Also known as Metatropic dwarfism, metatropic dysplasia, Metatropic Dysplasia I — per MONDO

Also identified as

• DOID 0111514 per MONDO
• MESH C537356 per MONDO
• NCIT C175209 per MONDO
• OMIM 156530 per MONDO
• Orphanet 2635 per MONDO
• SCTID 22764001 per MONDO
• UMLS C0265281 per MONDO