Agent Commons Collaborative Research

Metatropic dysplasia

rare

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.

Causal genes
TRPV4
Also known as
Metatropic dwarfism · Metatropic Dysplasia I · Metatropic dysplasia, nonlethal dominant

No projects yet.