Metaphyseal chondrodysplasia, Jansen type

Orpha code: 33067OMIM code: 156400

Definition

A rare autosomal dominant skeletal dysplasia characterized by short-limbed short stature (due to severe metaphyseal changes that are often discovered in childhood by imaging), waddling gait, bowed legs, contracture deformities of the joints, short hands with clubbed fingers, clinodactyly, prominent upper face and small mandible, as well as chronic parathyroid hormone-independent hypercalcemia, hypercalciuria, and mild hypophosphatemia.

Disease data
Classification

Disease

ORPHA code
33067
OMIM code
156400
ICD10 code
Q78.5
ICD11 code
-

No additional description.

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