Spondylometaphyseal dysplasia, Kozlowski type

MONDO:0008477

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.

Also known as: spondylometaphyseal dysplasia, Kozlowski type, Dysmorphism arthrogryposis skeletal maturation advanced, Jequier Kozlowski skeletal dysplasia, Jequier-Kozlowski syndrome, SMDK, SmD Kozlowski type, SmD, Kozlowski type, skeletal dysplasia Jequier-Kozlowski type

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