Table 2.

High-risk groups for MPS.

Phenotype	Main Types of MPS	Differential Diagnoses
“Hurler-like phenotype” (Coarse facial features, hepatosplenomegaly, dysostosis multiplex and claw hand deformities)	I, II, VI, VII and MPSPS	Multiple sulfatase deficiency, GM1 gangliosidosis, Galactosialidosis, Mucolipidosis, Oligosacaridosis
Progressive joint disease with childhood onset	IX; attenuated forms of other types of MPS	Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, Blau syndrome, Progressive pseudorheumatoid dysplasia, Multicentric carpotarsal osteolysis syndrome, Czech dysplasia
Nonimmune hydrops fetalis	I, IV and VII	Malformations, Chromosomal disorders, other LDs, infections, skeletal dysplasias
Developmental delay/regression and Hyperactivity/aggressive behavior	III	Several other metabolic, genetic and acquired causes of mental retardation
Spondyloepiphyseal dysplasia	IV	Dyggve-Melchior-Clausen dysplasia and other spondylo-epi(meta)physeal dysplasias

GM1: gangliosidosis type I; LDs: lysosomal disorders; MPSPS: mucopolysaccharidosis-plus syndrome.