No pharmacologic therapies are available.

Here, Daniel H Cohn & team rescue the skeletal dysplasia phenotype of Trpv4 mutant mice—a new mouse model—using small molecule inhibition:

The figure: Reconstructed micro-CT images from WT and Co2a1-Cre/Trpv4p. R59H mutant mice showing reduction in the cervical angle (dashed red lines). The T1 vertebral body in the mutant was smaller and poorly mineralized.

²Actio Biosciences, San Diego, California, USA.

³Department of Orthopaedic Surgery, UCLA, Los Angeles, California, USA.

⁴Department of Nutritional Sciences, Dell Pediatric Research Institute, The University of Texas at Austin, Dell Medical School, Austin, Texas, USA.