This syndrome associates progressive visual loss with scoliosis or kyphoscoliosis and arachnodactyly of the fingers and toes.
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 2026
Newly diagnosed with
Blindness-scoliosis-arachnodactyly syndrome?
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Advocacy Organizations
Myhre Syndrome Foundation
We aim to safely bring the best possible treatments to the Myhre syndrome community. We’re building tools to test a wide range of therapies—from existing drugs to DNA repair.
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Clinical Trials
For a list of clinical trials in this disease area, please click here.