Catalog

Parastremmatic dwarfism

No MMS code

Link to WHO Definition

Parastremmatic dwarfism – http://id.who.int/icd/entity/431936114

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).