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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 > Morquio Syndrome

Morquio Syndrome (MPS IV)

Alternative Names: Mucopolysaccharidosis IV; MPS IV Type A (MPS IVA); MPS IV Type B (MPS IVB); MPS IV; MPS IVA; MPS IVB

Disease Category: Lysosomal Diseases

A rare, inherited, lysosomal disorder, caused by two missing or abnormal enzymes that cannot break down glycosaminoglycans (GAGs, complex sugar molecules with amino groups that are critical components of connective tissues). Symptoms include hepatomegaly (liver enlargement), respiratory problems, vision and hearing loss, hernias (intestinal protrusions in the abdomen), joint hypermobility (laxity), and dental, heart valve, and skeletal abnormalities. Odontoid process hypoplasia (bony malformation resulting in a smaller, peg-like, bony structure of the second vertebra in the neck) may cause spinal cord compression, leading to paralysis.

Research groups studying this disease

Lysosomal Diseases
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Lysosomal Disease Network (LDN)