Review articleThe dysmorphic phenotype in vascular Ehlers Danlos syndromeLyness, James R.a; Morrison, Patrick J.b Author Information aState Pathologist’s Department, Institute of Forensic Medicineand bDepartment of Genetic Medicine Patrick G Johnston Centre for Cancer Research and Cell Biology, Queens University of Belfast, Belfast, UK Received 16 June 2022 Accepted 9 September 2022 Correspondence to Patrick J. Morrison, CBE, MD, DSc, Department of Genetic Medicine, Belfast HSC Trust, Lisburn Road, Belfast BT9 7AB, UK, Tel: +44 (0) 28 9504 8177; e-mail: [email protected] Clinical Dysmorphology 32(1):p 1-6, January 2023. | DOI: 10.1097/MCD.0000000000000437 Buy Metrics Abstract The Ehlers Danlos syndromes are identified by their connective tissue features and are not rich in dysmorphic handles. Vascular Ehlers Danlos syndrome (vEDS) however, is characterised by a recognisable phenotypic constellation of internal and external dysmorphology. This review charts the paediatric and adult phenotypes of vEDS due primarily to COL3A1 gene variants and the potential recognition of some other EDS subtypes, including COL1A1 and COL25A1 that can present with vEDS-like features, with certain dysmorphic handles as clues to the diagnosis and the adjunct of gene testing in patients presenting with vEDS features. Copyright © 2022 Wolters Kluwer Health, Inc. All rights reserved.