Metaphyseal chondrodysplasia, Jansen type

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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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version May 2024

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Metaphyseal chondrodysplasia, Jansen type?

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