Morquio syndrome (MPS III) is a genetic (16q24.3) systematic bone disease characterized by severe malformation of the skeleton and dwarfing. Deformation of the back, thighbones, and knees is also common while intelligence is normal. While certain symptoms of Morquio syndrome are quite different than symptoms of Angelman syndrome, the quest for a diagnosis can be equally devastating. Although a diagnosis is possible at just one year of age, Dr. Shunji Tomatsu estimates that 30-40% of those diagnosed are five years old or older. Many of the families of these individuals have been seeking a diagnosis for years. As with other low incidence disorders, correct diagnosis and treatment is vital to ensure that the individual with Morquio syndrome remains in good health. If an individual remains undiagnosed, they risk the possibility of receiving incorrect treatments for their condition that can subsequently lead to long term, irreversible damage.

Long Term Goal: MPS disorders may potentially be treatable with enzyme replacement therapy. As new drug trials are being planned over the next few years, we hope to have the opportunity to expand our database while the planning for these trials is in progress, helping to support the development of new therapies.

The Morquio Project Participants:
Shunji Tomatsu, Assistant Professor of Department of Biochemistry and Molecular Biology, St. Louis University, School of Medicine;
Dr. Gregory Pastores, Co-Director, Neurogenetics Laboratory, New York University School of Medicine;
Dr. E. Paschke, an expert on Morquio Type B, University of Graz, Austria;
Mary Harings, President, The Carol Ann Foundation, a Morquio support group;
Steve Smith, Plan Management International (father of Ian Micheal Smith, who starred in the 1998 feature movie "Simon Birch")

The Difficulty of Diagnosing Morquio Syndrome
The majority of physicians are unlikely to have ever seen an individual with an MPS disorder such as Morquio; therefore they may miss the diagnosis due to lack of experience. Because the traditional medical model is based on systemic pathology, looking at an individual as a whole is generally more useful than looking at only a specific symptom, but many specialty texts about these disorders include only a few paragraphs and a photo or two highlighting the more classical presentation. However, nearly all of the disorders have individualized phenotype, symptoms and treatments that need to be carefully examined.

It is urgent that families get an accurate diagnosis of Morquio syndrome early for many reasons, but a particularly urgent one is that the neck must be examined for weakness by a qualified surgeon and surgery performed if required, or a simple fall could cause total paraplegia. Proper physical therapy is vital for individuals with Morquio syndrome. Without it, they are likely to end up wheelchair-bound or paralyzed. In extreme cases individuals with Morquio syndrome can die due to lack of proper physical treatment and care.

Activities: Using the system established during the making of The Angelman Project, we plan to develop a multimedia database to document the organization of the clinical, genetic, and behavioral aspects of Morquio syndrome (MPS-3). In collabortation with experts in Morquio syndrome, the staff of Louise Tiranoff Productions will produce The Morquio Project. As in The Angelman Project, digital video recording techniques will be used to capture all aspects of Morquio syndrome, whether it be information relating to the experts (interviews in labs, offices, with patients) or video acquisition of data relating to subjects (interviews with families and observations of behavior i.e., disposition, communication, styles of locomotion) and appearance (i.e. craniofacial structure, and other phenotypic features.) Indexed video clips and short documentaries, as well as photographs, articles, medical records and other relevant elements will be provided.

Dr. Shunji Tomatsu, Associate Professor of Biochemistry and Molecular Biology at the St. Louis School of Medicine, one of the world's foremost experts in genetic diagnosis and treatment of Morquio syndrome, has pledged his support for this project. With the support of these experts and a close working relationship with Mary Harings, President of the Carol Ann Foundation, a major Morquio syndrome support group, Louise Tiranoff Productions has a strong base from which to establish a network of Morquio syndrome contacts - both families and professionals - who could contribute to the project. This process of networking in order to find subjects will be greatly facilitated by the existence of well-established relationships, both with professionals and families that have already been built through The Angelman Project.

By working with Dr. Shunji Tomatsu, Dr. Eduard Paschke, Dr. Gregory Pastores, the Carol Ann Foundation, Steve and Ian Michael Smith, and other members of the Morquio syndrome community, we will develop a database of confirmed cases of Morquio syndrome including individuals with a wide range of symptoms, prognoses who are different in age, ethnic background, economic circumstances and include both males and females. We are careful to include as broad a range of subjects as possible, taking into consideration diversity of type as well as individual medical issues, to ensure that we broadly address all aspects of the syndrome.

Long Term Goal: MPS disorders may potentially be treatable with enzyme replacement therapy. As new drug trials are being planned over the next few years, we hope to have the opportunity to expand our database while the planning for these trials is in progress, helping to support the development of new therapies.

Funding: Applications are in progress.
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