Multiple epiphyseal dysplasia due to collagen 9 anomaly

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Multiple epiphyseal dysplasia due to collagen 9 anomaly

Multiple epiphyseal dysplasia due to collagen 9 anomaly is a rare primary bone dysplasia disorder characterized by normal or mild short stature early-onset pain and/or stiffness of the joints (mainly affecting knees but also elbows wrists ankles and fingers with relative sparing of the hips) and early degenerative joint disease. Other skeletal anomalies (incl. varus or valgus deformities osteochondritis dissecans abnormal carpal shape free articular bodies) and mild myopathy have also been reported.

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 March 2024

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