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Diseases Studied

The Rare Diseases Clinical Research Network is an NIH-funded research network of 20 active consortia or research groups working to advance treatment for diseases that are rare. Use the search tools on this page to find the diseases we currently study. You can reach out to the indicated consortia or research groups for more information on those diseases and studies underway.

This network focuses on clinical research and does not generally support clinical care outside of research activities. To learn about other rare diseases, please visit the Genetic and Rare Diseases Information Center (GARD), which is an NIH program that helps the public find reliable information about rare and genetic diseases. Their staff are specialists. Contact them at 1-888-205-2311 or email

All Diseases > Maroteaux-Lamy Syndrome

Maroteaux-Lamy Syndrome (MPS VI)

Alternative Names: Arylsulfatase-B Deficiency; Mucopolysaccharidosis Type VI (MPS 6; MPS Type VI); Polydystrophic Dwarfism

Disease Category: Lysosomal Diseases

A rare, inherited, lysosomal disorder, caused by a missing or abnormal enzyme that cannot break down glycosaminoglycans (GAGs, complex sugar molecules with amino groups that are critical components of connective tissues). Symptoms manifest during early childhood, including organ enlargement, inflammation, scarring, and atrophy of many tissues, skeletal abnormalities, cardiac and respiratory complications, carpal tunnel syndrome, spinal stenosis (a narrowing of the spinal canal containing the spinal cord), vision and hearing loss, and hernias (intestinal protrusions in the abdomen).

Research groups studying this disease

Lysosomal Diseases
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Lysosomal Disease Network (LDN)