A rare autosomal recessive lysosomal storage disorder of mucopolysaccharidosis type 6 (MPS VI) with characteristic skeletal and soft tissue dysplasia, including short stature, coarse facial features, and anterior beaked vertebrae. MPS VI has been associated with hydrocephalus, hepatosplenomegaly, spinal cord compression, and cervical pachymeningitis. Other signs and symptoms include joint immobility, dysostosis multiplex, heart abnormalities, and corneal clouding. A deficiency of arylsulfatase B causes excretion of dermatan sulfate in the patient's urine. Mental development is usually normal. Diagnosis is generally in late infancy or early childhood with expected lifespan of 20 or more years, depending on severity.
There is no cure, but enzyme replacement therapy and blood stem cell transplant for symptomatic treatment continues lifelong with good management results.