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Parastremmatic dwarfism
Disease definition
Parastremmatic dwarfism is a very rare chondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs.
ORPHA:2646
Summary
Epidemiology
Only 5 cases have been described to date.
Clinical description
Radiographs show bowing of long bones, platyspondyly and a very rough, irregular metaphyseal and epiphyseal bone texture.
Etiology
The syndrome is caused by a heterozygous mutation in the TRPV4 gene (12q24.1).
Additional information
Further information on this disease
Health care resources for this disease
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