Spondylometaphyseal Dysplasia, Kozlowski Type

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.

Epidemiology

Prevalence is estimated at less than one in one million people.

Clinical description

Intelligence is usually normal.

Etiology

The syndrome is caused by a mutation in the TRPV4 gene (12q24.1) and is transmitted in an autosomal dominant manner.