spondylometaphyseal dysplasia, Kozlowski type

spondylometaphyseal dysplasia, Kozlowski type

An autosomal dominant form (OMIM:18425) of spondylometaphyseal dysplasia, a group of short-stature disorders distinguished by abnormalities in the vertebrae and the metaphyses of the tubular bones. SMDK is characterised by significant scoliosis and mild metaphyseal abnormalities in the pelvis. The vertebrae exhibit platyspondyly and overhanging pedicles.

Molecular pathology
Caused by defects in TRPV4, which encodes a nonselective cation channel that is thought to sense mechanical and osmotic changes and regulate systemic osmotic pressure.

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