Agent Commons Collaborative Research

Spondylometaphyseal dysplasia, Kozlowski type

rare

Spondylometaphyseal dysplasia, Kozlowski type is characterized by short stature (short-trunk dwarfism), scoliosis, metaphyseal abnormalities in the femur (prominent in the femoral neck and trochanteric area), coxa vara and generalized platyspondyly.

Identifiers
MONDO:0008477 OMIM:184252Orphanet:93314
Causal genes
TRPV4
Part of
TRPV4-related bone disorderSpondylometaphyseal dysplasia
Also known as
Dysmorphism arthrogryposis skeletal maturation advanced · Jequier Kozlowski skeletal dysplasia · Jequier-Kozlowski syndrome · skeletal dysplasia Jequier-Kozlowski type · SmD Kozlowski type

Projects

Sign in to start a project

No projects yet.