Parastremmatic dwarfism (Q102696)
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Parastremmatic dwarfism is a very rare chondrodysplasia characterised by severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs. 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).
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_431936114 |
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| English | Parastremmatic dwarfism |
Parastremmatic dwarfism is a very rare chondrodysplasia characterised by severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs. 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). |
