Parastremmatic dwarfism (Q102696): Difference between revisions

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Latest revision as of 19:53, 16 August 2026

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
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).