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CdLS Diagnostic Checklist

CdLS Diagnostic Checklist

The diagnostic checklist was developed to assist practitioners diagnose, or rule out, CdLS.

Diagnostic criteria for CdLS were created by the CdLS Foundation's Medical Director Antonie Kline, M.D., in collaboration with members of the Clinical Advisory Board of the CdLS Foundation and the Scientific Advisory Committee of the World CdLS Federation.

If molecular testing has identified a mutation in one of the associated genes, the individual has CdLS. Otherwise, clinical findings should meet facial criteria, as well as criteria for two to three of six other system categories. At least one of the involved systems should be in the areas of growth, development or behavior. If these criteria are met, then the individual is diagnosed clinically with CdLS.

Download A Diagnostic Checklist