Who are the Guidelines For?
- Dysmorphologists
- Healthcare Professionals managing day to day care of patients with these rare conditions
- Co-ordinators of patient support groups
- Patients, Families, Carers, Teachers
What will be the format of the finished guidelines?
Some or all of the following will be developed for each condition.
- Management guidelines published in appropriate journal.
- Personal Health Records
- Information Sheets
- Management Review Checklists
- Orphanet Emergency Guidelines
Expert Leads and Project Team will decide on appropriate format(s) for individual conditions. This will be discussed at the relevant consensus meeting.
Guideline Development Methodology
DYSCERNE guidelines will be developed using a modified SIGN Methodology.
This method of developing guidelines uses multidisciplinary groups of practising clinicians and uses both a systematic review of evidence and expert consensus, to answer key questions and produce validated guidelines. The method has been used to develop guidelines for a wide range of conditions including some cancers with strong genetic components (e.g bowel and breast), but for rare dysmorphic syndromes, there isn’t such a rich evidence base, so our guideline development process will place more emphasis on expert opinion and consensus, whilst still undertaking a thorough review of the current literature.
A paper which describes the guideline development methodology will be produced before the end of the project.
Conditions and Expert Leads
From an initial list of 16 dysmorphic conditions, a scoping exercise identified 8 conditions which the partners felt would benefit from the development of clinical management guidelines. The list of 8 conditions was discussed at the first partner meeting in October 2007 and the following four conditions were selected. For each condition, an expert review group, chaired by one of the project partners has been created.
Condition | Group Lead |
Angelman Syndrome | Jill Clayton-Smith (Lead) with Malgorzata Krajewska-Walasek |
Kabuki Syndrome | Nicole Philip (Lead) with Koen Devriendt |
Noonan’s Syndrome | Ineke van der Burgt (Lead) with Bronwyn Kerr |
Williams Syndrome | Kay Metcalfe (Lead) with Bruno Dallapiccola |