Research for the cause/gene of Dubowitz Syndrome has been sporadic at best.  There are so few children with the syndrome, and even fewer that have been correctly identified.  The current criteria for correct identification is usually from a geneticist that has seen another child with it and your child fits over 60% of the characteristics. A 'definitive diagnosis' has been someone that has seen Dr. John Opitz at the University of Utah Primary Medical Center.  Dr. Opitz had more or less 'taken charge' of the syndrome here in the United States and has seen some of the children and collected blood samples from many of them for future research.  Over the past few years, Dr. Opitz has become more focused on what he considers the related FG Syndrome. Although many of us have seen him and had our children tested for this, a number of our kids do NOT have FG Syndrome as of this writing and are still considering Dubowitz Syndrome our main diagnosis. Dr. Victor Dubowitz, from the Imperial School of Medicine in London, England, is the person who first 'discovered' this syndrome.  He has also seen some of the children here in the United States as well as in the United Kingdom.

There are other very qualified geneticists who can make a good guess of it, but currently there is no one test that determines Dubowitz Syndrome.

Dr. Richard Kelley at Kennedy/Kreiger and Johns Hopkins was also doing some work, but has issues with his research people. Dr. Gerald Cox at Boston Childrens' Hospital has graciously seen many of us over the past year and has taken an interest in this syndrome. We hope to continue this wonderful relationship and offer families a yearly chance to see him. He now has many families with Dubowitz Syndrome in his caseload.

Since the cases are all so different and there are so few, one of the ways to encourage research is to band together with other groups that have similar symptoms.  The National Institutes of Health/Office of Rare Disorders encourages families to find other syndromes or conditions (such as eczema) that have a common thread and explore research that way.

This is an exciting time in the realm of genetics and research, recently, Dr. Opitz and others announced the discovery of the gene/genes that are thought to be the cause of FG syndrome. He is quite sure that Dubowitz is related somehow and hopes to have some answers for those of us still waiting. The FG Syndrome Support Network is huge, and is a great place to be if you think your child may not quite fit the Dubowitz diagnosis. Please visit them at their website and join their listserv if you have specific questions about FG Syndrome and research associated with that.

See 'our favourite people' for more information on the doctors above and others who have been a great help and resource for Dubowitz Syndrome.

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Federal research information on the internet, most of these offices have grants, some funds for research, and some conduct trials.

Orphan Drug Program at the FDA

Office of Rare Diseases at the NIH

Maternal & Child Health Bureau at HRSA

National Organization of Rare Disorders (NORD)

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we are NOT responsible for the accuracy of the above translator as it tends to be very 'literal', but it's better than nothing.