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 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.
ISBN/ISSN
1473-5717
Product Format
Online Journal Only
Publication Frequency
Published 4 times per year (Quarterly)
Sofia Douzgou Houge
Dr Sofia Douzgou Houge Haukeland University Hospital, Bergen, Norway
Peer-reviewed content --Original Articles --Short Case Reports --Reviews --Correspondence
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