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.
MONDO:0016763
spondylometaphyseal dysplasia
is_a
MONDO:0018240
TRPV4-related bone disorder
is_a
Dysmorphism arthrogryposis skeletal maturation advanced
related
Jequier Kozlowski skeletal dysplasia
related
Jequier-Kozlowski syndrome
related
SMDK
related
SmD Kozlowski type
related
skeletal dysplasia Jequier-Kozlowski type
related
spondylometaphyseal dysplasia, Kozlowski type
exact