This website provides information on patients with mutations in the ADAMTSL2 gene, including clinical data, molecular data, management and research options.
The syndrome caused by mutations in the ADAMTSL2 gene is a multisystem disorder characterized by joint hypermobility, skin extensibility, and tissue fragility phenotypically similar to the Ehlers-Danlos syndromes (EDS).
Not all individuals with a mutation in the ADAMTSL2 gene have these features.
This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the ADMATSL2 gene.
Merlin Butler, Professor of Psychiatry, Behavioral Sciences and Pediatrics. ABMG Certified Clinical Geneticist and Clinical Cytogeneticist. MD/PhD, Director, Division of Research and Genetics. Director, KUMC Genetics Clinic., Kansas City, USA, firstname.lastname@example.org