In 2007, the DYSCERNE pilot project funded by the European Commission Public Health Executive Agency (EU DG Sanco) aimed at setting up a network of expertise for patients with rare dysmorphic ...

Down syndrome is caused by the presence of a third copy of chromosome 21, which is why this condition is also called trisomy 21. It leads to an overexpression of the genes in this region and this ...

The great advantage of the ESHG is that it is a broad church. Although for many years we fell into several distinct tribes, such as clinicians, cytogeneticists, molecular geneticists, counsellors, ...

DYSMORPHOLOGY IS THE BRANCH OF CLINICAL GENETICS in which clinicians and researchers study and attempt to interpret the patterns of human growth and structural defects. Reaching an accurate diagnosis ...

Researchers at the Francis Crick Institute, King’s College London and University College London have shed light on the genetics behind changes in the structure and shape of the face and head in a ...

THERE is something of the 19th century about the science of dysmorphology. The idea that medical conditions, such as Down’s or Angelman’s syndromes, whose main consequences are neurological and ...