This website provides information on individuals with mutations in the BMP2 gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the BMP2 gene is a multisystem disorder characterized by short stature, craniofacial anomalies such as cleft palate, and cardiac structural and rhythm defects.

Not all individuals with a mutation in the BMP2 gene have these features.

This website was created to share and collect information about clinical, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the BMP2 gene.

Tiong Yang Tan, MBBS, FRACP, PhD, Victorian Clinical Genetics Services, Murdoch Children’s Research Institute, Department of Paediatrics, University of Melbourne, Australia,

Claudia Gonzaga-Jauregui, PhD, Regeneron Genetics Center, Regeneron Pharmaceuticals Inc., Tarrytown, NY 10591, USA,

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