mucopolysaccharidosis type IV Morquio eMedicine

Description: Synonyms and related keywords: mucopolysaccharidosis type IV, Morquio syndrome, MS, mucopolysaccharidoses type IVA, OMIM 253000, mucopolysaccharidoses type IVB, OMIM 253010, lysosomal storage disease, MPS IVA, B MPS IVA, MPS IVB12
Contents: Information Introduction Clinical Differentials Workup Treatment Medication Follow-up Miscellaneous Pictures Bibliography
Author: Nancy Braverman, MD, Assistant Professor, McKusick-Nathans Institute of Genetic Medicine, Department of Pediatrics, Johns Hopkins Medical Center
Coauthor(s): Julie Hoover-Fong, MD, Assistant Professor, Clinical Director, Greenberg Center for Skeletal Dysplasias, McKusick-Nathans Institute of Genetic Medicine, Department of Pediatrics, Johns Hopkins Medical Center;
Michael C Ain, MD, Assistant Professor, Departments of Neurosurgery and General Surgery, Division of Pediatric Orthopedic Surgery, Johns Hopkins University School of Medicine
Patients with Morquio syndrome usually can be clinically distinguished from patients with other MPSs because they do not have coarse facial features or mental retardation and they have additional skeletal manifestations derived from a unique spondyloepiphyseal dysplasia and ligamentous laxity. These skeletal manifestations include odontoid hypoplasia, a striking short trunk dwarfism, and genu valgus. Compared to other patients with MPS, those with Morquio syndrome tend to have greater spine involvement with scoliosis, kyphosis, and severe gibbus, as well as platyspondyly, rib flaring, pectus carinatum, and ligamentous laxity. Odontoid hypoplasia is the most critical skeletal feature to recognize in any patient with Morquio syndrome.