Severe myopia-generalized joint laxity-short stature syndrome

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A rare developmental defect with connective tissue involvement characterized by joint hyperextensibility and multiple dislocations of large joints severe myopia and short stature. Other common features include retinal detachment iris and chorioretinal coloboma kyphoscoliosis and other spine deformities pectus carinatum talipes equinovarus and progressive hearing loss.

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 Data version July 2024

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Severe myopia-generalized joint laxity-short stature syndrome?

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