Clinical hints to diagnosis of attenuated forms of Mucopolysaccharidoses

Table 1 Skeletal, cardiac, and ocular features for each type of attenuated MPS as summarized from the literature +++ = most/all; ++ = several; + = few

Clinical features	MPS I	MPS II	MPS III	MPS IV	MPS VI	MPS VII	MPS IX	References
Skeletal								[2–4, 6,7,8,9,10,11,12, 24, 25, 28,29,30, 32, 33]
Short stature	+	++	+	+++	++	++	+
Gibbus deformity	+	++	–	–	++	++	–
Valgus knee	+	++	–	+++	++	++	–
Pectus carinatum	+	+	–	+++	+	+	–
Scoliosis	++	++	+	+++	++	+	–
Hip dysplasia	+++	++	+	+++	++	+++	–
Atlanto-axial instability	+	–	–	+++	++	+	–
Cord compression	++	++	–	+++	++	++	–
Carpal tunnel syndrome	+++	+++	–	–	+++	+	–
Arthropathy	+++	+++	+	+++	+++	+++	+++
Joint stiffness	+++	+++	+	–	+++	+++	–
Joint laxity	–	–	–	+++	–	–	–
Joint effusion	–	–	–	–	–	–	+++
Heart								[14, 16, 17, 19]
Valvulopathy	+++	+++	+	+	+++	++	UN
Hypertrophic cardiomyopathy	+	++	–	–	+	+	UN
Eye								[21, 22]
Corneal clouding	+++	+	+	+	+++	+++	UN
Retinal degeneration	+++	++	++	++	UN	UN	UN
Glaucoma	++	+	+	+	++	++	UN

ISSN: 1824-7288