Conditions / Genetic
parastremmatic dwarfism
info · Genetic
An osteochondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and bowing and twisting of lower limbs that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11.
Signs and symptoms
- Severe short stature
- Scoliosis
- Flexion contracture
- Kyphosis
- Short neck
- Bowing of the long bones
- Genu valgum
- Intellectual disability
Also known as: parastremmatic dysplasia