Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis is a type 2 collagen-related bone disorder characterized by precocious generalized osteoarthritis (with onset as early as childhood) and mild dysplastic spinal changes (flattening of vertebrae irregular endplates and wedge-shaped deformities) resulting in a mildly short trunk.
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 April 2024
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Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis?
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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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