Management of individuals with genetic syndromes often includes screening and treatment for the multi-systemic features associated with the specific syndrome, developmental and educational assessment, and screening for at-risk relatives. The purpose of this tool is to help you identify resources that can aid in the development of a comprehensive management plan for your patient and his or her family for a variety of genetic syndromes.
National Guidelines Clearinghouse
guideline.gov/ The National Guidelines Clearinghouse is a publicly available resource that provides access to evidence-based clinical practice guidelines. Use the Clearinghouse to search for guidelines about management of a specific syndrome.
www.genefacts.org GeneFacts are fact sheets designed to be used at the point of care in clinic. Each condition-specific fact sheet includes guidance on risk assessment, diagnosis, testing, and management, with links for evidence-based and professional society guidelines.
www.rarechromo.org Unique is a family support group for rare chromosomal conditions. They provide information to families, health professionals, and the public about many different chromosomal conditions. Click on Professionals and Disorder Leaflets to access condition-specific information.
www.ncbi.nlm.nih.gov/books/NBK1116 GeneReviews are expert-authored, peer-reviewed, current disease descriptions that apply genetic testing to the diagnosis, management, and genetic counseling of patients and families with specific inherited conditions.
Genetics education materials for school success: GEMSS
www.gemssforschools.org The aim of GEMSS is to assure all children with genetic health conditions succeed in school-life. This resource includes information about medical/dietary needs, education supports, behavior and sensory supports, physical activity, school absences, and emergency planning for certain genetic conditions.
OMIM: Online Mendelian Inheritance in Man
omim.org/ OMIM is a frequently-updated online catalog of genetic syndromes and gene associations. The full-text, referenced overviews contain information on all known genetic syndromes. Use the links on the right hand side of the page to find related resources.
Management of Genetic Syndromes
S. B. Cassidy, & J. E. Allanson (Eds.). (2010). Management of genetic syndromes (3 edition). Hoboken, N.J.: John Wiley & Sons, Inc.
National Institutes of Health Clinical Trials Database