Synopsis:  Dysmorphology is the practice of making syndrome diagnoses. The key components of genetic syndromes are typically developmental disability, structural abnormalities, disturbance of growth and distinctive facial features. Despite the recognition of more than 3000 distinct syndromes, there are large numbers of children in whom a definitive diagnosis is not made. Rates of diagnosis are improving with the advent of new genetic tests, including single gene sequencing, microarrays and exome sequencing. Along with greater rates of diagnosis, these new genome-wide tests also bring the potential for results which may be unexpected or difficult to interpret, and health professionals need new skills to interpret test results for families.

An essential tool used to make syndrome diagnoses is the POSSUM database, a dysmorphology database, developed at RCH/MCRI and recently redeveloped as POSSUMweb. POSSUMweb is now used in more than 600 centres worldwide and is a valuable contribution to the practice of dysmorphology. This talk will provide an overview of the process of syndrome diagnosis and the impact of new genetic technologies and diagnostic tools such as POSSUMweb. A particular focus will be on what paediatric health care providers need to know about using gene tests and diagnostic tools in order to optimise care of a child with a dysmorphic syndrome.

Speaker:Sue White is a clinical geneticist at Victorian Clinical Genetics Service and RCH. Her clinical and research interest is in syndrome diagnosis in children. Sue is a dysmorphology consultant to the POSSUMweb dysmorphology database.

Grand Round presented on 26 September 2012