Happy 1st Birthday to the DDS!

As DYSCERNE’s Dysmorphology Diagnostic System (DDS) has now been available and working for just over 1 year we thought it would be an ideal time to update you on the systems recent progress.

The DYSCERNE Network continues to expand and we now have 82 submitting nodes from 31 countries. Our DDS Expert Panel of reviewers has also increased to a total of 37 allowing for more reviews per case (current average is 6 per case).

Last month, December 2009, was our best month yet for case submissions to the system with 8 being accepted for expert review.

Evidence from our previous audits of the system show it to be a viable and effective service in terms of making diagnoses based on consensus clinical opinion. Recently there have been cases of Macrocephaly-Cutis Marmorata-Telangectasia Congenita and Mhyre syndrome clinically confirmed. There are also 2 pairs of siblings on the system who have what is thought to be a new recessively inherited multiple abnormalities mental retardation syndrome. Features include short stature, microcephaly and developmental delay, malocclusion with prominent upper incisors/maxilla, scoliosis and tapering fingers and Dandy Walker malformation. Overall a consensus diagnosis is reached in about 15% of cases.

We are pleased that so many colleagues are using the system. We would like to thank everyone who takes the time to give their expert opinions and encourage you all to continue submitting new cases.

The DDS is undoubtedly a success and a valuable tool for practicing dysmorphologists.
Published on 01/02/10