Metatropic dysplasia
ORPHA:2635· ICD-10 Q77.8
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.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Antenatal, Neonatal