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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 2646
A very rare chondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs.
Only 5 cases have been described to date.
Radiographs show bowing of long bones, platyspondyly and a very rough, irregular metaphyseal and epiphyseal bone texture.
The syndrome is caused by a heterozygous mutation in the TRPV4 gene (12q24.1).
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
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