Spondylometaphyseal dysplasia, Kozlowski type

Disease Overview

Spondylometaphyseal dysplasia, Kozlowski type is a bone disease characterized by short stature involving the trunk. “Spondylo”refers to the spine (vertebrae), “metaphysis” refers to the wide part of the bone that contains the growth plate (the part of the bone that grows during childhood), and “dysplasia” means abnormal growth. It usually starts in early childhood when poor growth with uneven stature and a waddling gait with bow legs (genu varum) is noticed. Early osteoarthritis of the joints is also common. Other signs and symptoms include small hands and fingers, spine deformities, and X-ray showing short vertebra, mild metaphyseal changes, severe delay in ossification, square, short, flared iliac wings (the broadest part of the pelvic bone) and a flat and irregular hipbone.[12707][12709]  Spondylometaphyseal dysplasia, Kozlowski type is caused by mutations in the TRPV4 gene. Inheritance is autosomal dominant.[12709] Treatment is surgical or the use of braces to align the spine.[12707][12708]

Synonyms

• Dysmorphism arthrogryposis skeletal maturation advanced
• Jequier-Kozlowski syndrome
• Skeletal dysplasia Jequier-Kozlowski type
• SMD Kozlowski type
• Jequier Kozlowski skeletal dysplasia