Severe myopia-generalized joint laxity-short stature syndrome
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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
Newly diagnosed with
Severe myopia-generalized joint laxity-short stature syndrome?
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Myhre Syndrome Foundation
Myhre Syndrome Foundation is a patient advocacy organization dedicated to providing hope and improving the lives of those impacted by Myhre syndrome.
The Chandler Project
The Chandler Project (TCP) provides those affected with achondroplasia, and other forms of skeletal dysplasia (dwarfism), with the latest in pharmaceutical research and surgical advancements.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
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