Maroteaux-Lamy syndrome, also known as mucopolysaccharidosis VI, is a lysosomal storage disorder caused by a deficiency in the arylsulfatase B enzyme.
The clinical features include short stature, corneal clouding, hepatosplenomegaly, cardiac abnormalities, and skeletal findings such as dysostosis multiplex and joint contractures. However, unlike many of the other MPS disorders, individuals with Maroteaux-Lamy generally have normal intelligence.
Maroteaux Lamy syndrome is characterized by short stature, coarse facies, corneal clouding, joint stiffness and contractures and splenomegaly. Other features may include inguinal hernia, obstructive airway disease, skeletal abnormalities and cardiac valve disease. The progression of Maroteaux Lamy syndrome varies among affected individuals, and intelligence is typically not affected.