lunes, 18 de septiembre de 2017

Atlas of Human Malformation Syndromes in Diverse Populations

Atlas of Human Malformation Syndromes in Diverse Populations
NIH - National Human Genome Research Institute - Advancing human health through genomics research

Atlas of Human Malformation Syndromes in Diverse Populations

Globe with DNA
An international group of clinical geneticists, dysmorphologists, and other medical specialist have come together to create an atlas of human malformation syndromes in diverse populations. The purpose of this website is to provide a tool that is easy to use and helpful for the clinician in diagnosing syndromic disorders across varied populations. Photographs of the face and other relevant body areas are the main focus of the website. The website will include photographs and the molecular diagnoses of individuals from geographically diverse locations including multiple locations in Asia, the Indian subcontinent, the Middle-East, South America, and sub-Saharan Africa. We anticipate that our electronic atlas will assist clinicians in associating congenital malformations with syndromes, allowing for earlier diagnosis and addressing the potential multiple associated medical issues.
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. In 2010, the World Health Organization began a focus on congenital malformations and announced support for public health policy directed at preventing congenital malformations through various measures and recognizing birth defects as a public health priority. As laboratory sequencing technologies become more available, recognition of malformation syndromes will become increasing important in all parts of the globe. Recognizing the global importance of congenital malformations and that most clinicians have trained with clinical genetic resources that used patients of northern European descent as the standard of reference, in this website we present patients from other parts of the world.
There is no identifying personal information on this website. There is a remote chance that one’s private gene mutation could function as a unique identifying piece of information; and, it will not be possible to obscure facial features because facial features are crucial to the diagnosis. This implies that a specific patient is potentially identifiable. However, this practice is no different from what currently occurs in textbooks of clinical genetics and malformation syndromes.
We foresee that this tool for evaluating dysmorphic patients from diverse populations will be used extensively by physicians, genetic counselors, and trainees throughout the world. Web resources are slowly becoming more popular than paper textbooks amongst medical providers as they can be used at the point of care with only a cell phone. This tool, while not replacing superior clinical skills, is intended to broaden the phenotype of syndromes to diverse populations and assist trained clinicians to make diagnoses in these populations. Variance in expression is a common finding in malformation syndromes, thus when possible, this website will attempt to show multiple individuals from various populations with a specific syndrome; however, it will not be possible to show every syndrome variation. Additionally, 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.

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