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Metatropic dysplasia
rareMetatropic 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.
- Identifiers
- MONDO:0007986 OMIM:156530Orphanet:2635
- Causal genes
- TRPV4
- Also known as
- Metatropic dwarfism · Metatropic Dysplasia I · Metatropic dysplasia, nonlethal dominant
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