Morquio syndrome

SummaryMorquio syndrome (mucopolysaccharidosis (MPS) type IV) is a rare inherited cause (autosomal recessive) of short-trunk dwarfism. Skeletal manifestations of this spondylo-epiphyseal dysplasia include severe growth retardation, odontoid hypoplasia, thoracolumbar kyphosis, hip dysplasia, genu valgum and marked skin and joint laxity. Mental function is normal, and the coarse facial features associated with the other MPS types are not present. Treatment is supportive only, with most affected individuals living until early adulthood.