Table 2 Clinical findings before or at initiation of enzyme replacement therapy^a

1

Yes (mild)

No

Wrist laxity, shoulder stiffness, hip dysplasia, enlarged head, dysostosis multiplex, pectus carinatum

No

Hepatomegaly, umbilical hernia

No

Hypospadias, recurrent respiratory infections, CTS

2

Yes

Conductive type C

Wrist laxity, genu valgum, pectus carinatum, increased lumbar lordosis, mild kyphosis, dysostosis multiplex

Yes (mild)

No

No

Recurrent respiratory infections,

tonsillar hypertrophy

3

No

No

Wrist laxity, genu valgum,

hip dysplasia,

pectus carinatum, minimal lumbar scoliosis, dysostosis multiplex

Yes (mild)

No

No

Recurrent respiratory infections,

tonsillar hypertrophy

4

Yes (minimal)

Conductive

Wrist laxity, elbow stiffness, mild kyphosis, scoliosis, genu valgum, pectus carinatum, dysostosis multiplex

Yes (mild)

Hepatosplenomegaly

Mild mitral insufficiency

Recurrent pulmonary infections

5

Yes (mild)

NA

Mild wrist laxity, hip dysplasia, genu valgum, pectus carinatum, mild kyphosis, dysostosis multiplex

Yes (mild)

Hepatomegaly, umbilical hernia

Mitral valve thickening, mild mitral/aortic insufficiency

Recurrent respiratory infections,

CTS, moderate upper airway obstruction due to adenoid and tonsillar hypertrophy, fecal incontinence

6

Yes (minimal)

Conductive type B & C and sensorineural

Wrist laxity, mild joint stiffness, genu valgum, pectus carinatum, mild kyphoscoliosis, dysostosis multiplex

Yes (mild)

Hepatomegaly, umbilical hernia

Mitral/aortic valve thickening, mild mitral insufficiency, respiratory sinus arrhythmia,

Recurrent respiratory infections,

VA right eye 5/10, adenoid/tonsillar hypertrophy

7

Yes

No

Wrist laxity, joint stiffness, genu valgum, pectus carinatum, kyphosis, dysostosis multiplex

Yes (moderate)

No

No

Recurrent respiratory infections,

VA 8/10 both eyes, papilledema, adenoid/tonsillar hypertrophy

8

Yes (mild)

Conductive type B & C

Wrist laxity, mild joint stiffness, genu valgum, hip dysplasia, ankle deformities, mild pectus carinatum, mild kyphosis, thoracolumbar scoliosis, dysostosis multiplex

Yes (Moderate)

Hepatomegaly

Mild aortic and mitral insufficiency

Recurrent respiratory infections,

adenoid/tonsillar hypertrophy

9

Yes (mild)

Sensorineural

Wrist laxity, joint stiffness, pectus excavatum, kyphoscoliosis, genu valgum, bilateral patellar dislocation, dysostosis multiplex

Yes

(Moderate-Severe)

Hepatosplenomegaly

Aortic insufficiency, mild aortic stenosis, mild mitral insufficiency

Recurrent respiratory infections,

adenoid/tonsillar hypertrophy, muscle weakness

10

Yes (mild)

Sensorineural

Wrist laxity, mild joint stiffness, genu valgum, pectus excavatum, thoracolumbar scoliosis, dysostosis multiplex

Yes (mild)

Hepatomegaly

Mild mitral insufficiency

Recurrent respiratory infections,

adenoid/tonsillar hypertrophy