Search for a rare disease
Other search option(s)
Parastremmatic dwarfism is 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).
- Clinical genetics review
- English (2014)