All types
In March 2017 some significant changes were made to the way the Ehlers-Danlos syndromes are classified and diagnosed. Thirteen types of EDS are now recognised, most of which are very rare. The gene mutations causing the conditions have been identified, and can be tested for, in all types except for the most common type, hypermobile EDS.
Genetic testing for rare types of EDS
Author
Juliette Harris, MS.c, Ph.D, Specialist Genetic Counsellor, Ehlers-Danlos Diagnostic Service London
Summary
Juliette Harris a specialist genetic counsellor from the Ehlers-Danlos Diagnostic Service, London
Kyphoscoliotic Ehlers-Danlos syndrome
Author
Jessica Bowen & Judy Tocher, Genetic Counsellors, EDS National Diagnostic Service, Sheffield Children's Hospital
Summary
An overview of kyphoscoliotic Ehlers-Danlos syndrome - its symptoms, diagnosis and cause explained. Written by genetic counsellors from the UK's only clinical genetics service specialising in the Ehlers-Danlos syndromes.
Dermatosparaxis Ehlers-Danlos syndrome
Author
Jessica Bowen & Judy Tocher, Genetic Counsellors, EDS National Diagnostic Service, Sheffield Children’s Hospital
Summary
A look at one of the very rare types of EDS.
Video: Overview of new classification of EDS
Presenter
Dr Hanadi Kazkaz, Consultant Rheumatologist, University College London Hospital
Summary
Dr Kazkaz talks about the history of the Ehlers-Danlos syndromes, right up to the most recent 2017 reclassification.
Video: The genetics behind connective tissue
Presenter
Dr Clair Francomano, Clinical Geneticist and Director of Adult Genetics, Harvey Institute of Human Genetics, Greater Baltimore Medical Center, USA
Summary
The genetics behind connective tissue, heritable disorders of connective tissue and the different types of EDS.
Video: EDS – The National Diagnostic Service and Specialist Clinic
Presenter
Dr Glenda Sobey, Consultant and Lead Clinician, EDS National Diagnostic Service, Sheffield Children's Hospital
Summary
The work of the NHS specialist service for atypical and complex cases of EDS (rare types).
Video: The EDS diagnostic services and rarer types of EDS
Presenter
Dr Anthony Vandersteen, Clinical Geneticist, EDS National Diagnostic Service, Northwick Park and St Mark’s Hospitals, Harrow
Summary
The work of the EDS National Diagnostic Service in diagnosing rare types of EDS.
Video: EDS in 2012
Presenter
Dr Clair Francomano, Clinical Geneticist and Director of Adult Genetics, Harvey Institute of Human Genetics, Greater Baltimore Medical Center, USA
Summary
Dr Francomano discusses what we know and what we don't know about EDS in 2012.
Video: EDS – myths and facts
Presenter
Dr Brad Tinkle, Clinical Geneticist and Division Head of Clinical Genetics, Advocate Children's Hospital, Chicagoland, USA
Summary
Myths and facts surrounding EDS.
Video: EDS – past, present and future
Presenter
Professor Rodney Grahame, Consultant Rheumatologist, The Hypermobility Unit, Hospital of St John and St Elizabeth, London
Summary
The history of the Ehlers-Danlos syndromes.
Video: Update from the EDS National Diagnostic Service
Presenter
Dr Glenda Sobey, Consultant and Lead Clinician, EDS National Diagnostic Service, Sheffield Children's Hospital and Rebecca Pollitt, Lead Scientist, Genetics Team, Sheffield Children's Hospital
Summary
An update from the clinic dealing with complex cases and rare types of EDS.
Video: Ehlers-Danlos syndrome – a personal historical perspective
Presenter
Professor Francis Michael Pope, Consultant in Charge, NHS National Commissioning Group Complex EDS Service, Northwick Park Hospital, Harrow
Summary
The history of the Ehlers-Danlos syndromes.