Congenital pseudoarthrosis of the limbs

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Congenital pseudoarthrosis of the limbs

Synonyms: Congenital pseudarthrosis of the limbs

A rare genetic non-syndromic limb malformation characterized by delayed union or non-union of a long bone resulting in formation of a false joint with abnormal mobility and angulation at the pseudoarthrosis site which manifests with progressive anterolateral forearm or leg bowing limb shortening and non-healing fractures. Typical histopathological findings include fibromatosis-like proliferation in the soft tissues with cystic or dysplastic lesions. Neurofibromatosis and osteofibrous dysplasia are frequently associated.

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 February 2024

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Congenital pseudoarthrosis of the limbs?

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Clinical Trials

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