Spondylometaphyseal dysplasia, Kozlowski type

Orpha code: 93314OMIM code: 184252

Definition

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.

Disease data
Classification

Disease

ORPHA code
93314
OMIM code
184252
ICD10 code
Q77.8
ICD11 code
-

No additional description.

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