About Diastrophic Dysplasia
Diastrophic dysplasia is a severe skeletal dysplasia caused by biallelic loss-of-function variants in SLC26A2, encoding a sulfate transporter essential for proteoglycan sulfation in cartilage, resulting in defective extracellular matrix in developing bone and cartilage. It is characterised by rhizomelic short stature, severe club feet, hand abnormalities including a characteristic hitchhiker thumb, joint contractures, and cervical kyphosis that poses a significant risk of spinal cord compression. Progressive scoliosis and hip dislocation are common complications requiring surgical management.
Common Clinical Features
Clinical Trial Eligibility Tips
What to know before applying to Diastrophic Dysplasia trials.
Cervical spine imaging (flexion-extension radiographs and MRI) is typically required at baseline given the high risk of cervicomedullary compression — this is both a safety screen and a disease-severity measure.
Surgical history (club foot correction, joint surgery, spinal fusion) must be fully documented as prior operations affect mobility endpoints used in trial assessments.
Molecular confirmation of biallelic SLC26A2 pathogenic variants is required; this gene also underlies achondrogenesis type 1B and atelosteogenesis type 2, so phenotypic and molecular classification together are needed.
Patient Resources
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