spondylometaphyseal dysplasia Kozlowski type

info · Genetic

A spondylometaphyseal dysplasia characterized by vetebral platyspondyly and overfaced pedicles, scoliosis, and mild metaphyseal abnormalities in the pelvis that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11.

Signs and symptoms

Platyspondyly
Delayed ossification of carpal bones
Irregular capital femoral epiphysis
Flared iliac wing
Narrow greater sciatic notch
Flat acetabular roof
Halberd-shaped pelvis
Scoliosis
Flared metaphysis
Carpal bone hypoplasia

Also known as: Jequier Kozlowski skeletal dysplasia; Jequier-Kozlowski syndrome; SMD Kozlowski type; dysmorphism arthrogryposis skeletal maturation advanced; skeletal dysplasia Jequier-Kozlowski type