Spondyloepiphyseal dysplasia, Stanescu type

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Synonyms: SED, Stanescu type

A rare spondyloepiphyseal dysplasia characterized by progressive joint contractures with premature degenerative joint disease particularly in the knee hip and finger joints. Patients are of normal height and present with gait problems joint pain and enlarged joints with joint restriction and contractures. Radiological features include generalized platyspondyly hypoplastic ilia epiphyseal flattening with metaphyseal splaying of the tubular bones and broad elongated femoral necks with marked coxa valga. Histopathologic examination of cartilage shows PAS-positive cytoplasmic inclusion bodies in chondrocytes.

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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