Clinical Dysmorphology

Clinical Dysmorphology is a peer-reviewed journal that publishes articles on the aetiology, clinical delineation and genomics of single or multiple congenital anomaly syndromes. Original clinical research, short clinical reports, and review articles are welcome on topics such as:

- Clinical description of previously undescribed conditions
- Novel phenotypes
- Novel or rare clinical findings in known multiple anomaly syndromes
- Novel genetic, genomic or epigenetic causes or associations to multiple anomaly syndromes
- Descriptions of hybrid syndromes, i.e., the mixed phenotype of different genomic conditions
- Natural history studies of rare genomic syndromes
- Treatment approaches in cases of rare genomic syndromes
- Systematic approaches of clinical care for individuals with rare genomic syndromes
- Studies of the clinical variability or genetic heterogeneity of rare genomic syndromes
- Novel approaches in Dysmorphology and pattern recognition, i.e., through the use of facial analysis technology.