Wednesday, May 18, 2016

NIH Produces Online Atlas of Human Malformation Syndromes

Atlas of Human Malformation Syndromes in Diverse Populations

An international group of clinical geneticists have created an online atlas of human malformation syndromes in diverse populations to assist clinicians with diagnosing syndromic disorders. The website will include photographs and the molecular diagnoses of individuals from geographically diverse locations around the globe. Previously, the only available diagnostic atlas featured photos of patients with northern European ancestry, which often does not represent the characteristics of these diseases in patients from other parts of the world.
"Birth defects remain a leading cause of infant mortality and childhood morbidity throughout the world. An accurate and early syndromic diagnosis is paramount, as late diagnosis can result in a delay in intervention and treatment of accompanying anomalies such as congenital heart defects or endocrine disorders."
Most major malformations are non-specific to a particular syndrome, thus this web site will attempt to show the pattern of malformations that are consistent with a syndrome. The authors foresee this new online tool being used extensively by physicians, genetic counselors, and trainees throughout the world.

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