» What is Cornelia de Lange Syndrome

Summary section

Physical characteristic recommendations:

R1: The CdLS spectrum encompasses a range of phenotypes consisting of classic (or typical) CdLS and non-classic CdLS, which are characterised by a combination of features (see Box 1, page 5).

R2: The International CdLS Consensus Group propose consensus criteria based on the presence of a combination of signs and features (see Box 1, page 5). A diagnosis of classic CdLS can be confirmed if a score of 11 is reached, irrespective of the presence of a variant in a gene known to result in CdLS.

R3: Presently available severity scoring schemes should be used cautiously as these do not adequately reflect the severity as experienced by the individuals with CdLS and their families.

<previous page | next page>