Spondyloepiphyseal dysplasia, Stanescu type
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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Spondyloepiphyseal dysplasia, Stanescu type?
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Advocacy Organizations
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
The Chandler Project
The Chandler Project brings awareness and shines a light on transformative research surrounding achondroplasia and other skeletal dysplasias by offering support to a global community and network of patients, parents, and caregivers seeking information on scientific discoveries, pharmaceutical advancements and surgical treatment options.
Clinical Trials
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