Patients with a mucopolysaccharidosis type VI (MPS VI, Maroteaux-Lamy) have many clinical signs similar to those of mucopolysaccharidosis type I such as disproportionate short stature, coarse facial features and hepatosplenomegaly, but intellectual disability is absent. Rapid and slow progressive forms are known. Stenosis of the cranio-cervical junction, leading to compression of the spinal cord, and vision impairment due to corneal clouding and glaucoma represent common complications.
Synonym: Maroteaux-Lamy syndrome
Etiology: Deficiency of arylsulfatase B
Gene: ARSB Gene
Mode of inheritance: Autosomal recessive
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