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Table 3 The 24 items that were proposed by the individual experts during the meeting

From: Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedure

Items Number of experts who proposed each item#
1. Global developmental delay/cognitive decline 18
2. Age at onset of symptoms <1.5 yr 13
3. Joint stiffness/arthropathy/contractures 11
4. Kyphosis/spinal involvement 11
5. Dysostosis multiplex 10
6. Cardiac involvement: valvular disease + cardiomyopathy 10
7. Large head/frontal bossing 8
8. Hydrocephalus 7
9. Age at diagnosis <1.5 yr 7
10. Coarse facial features 6
11. Growth retardation 4
12. Hepatosplenomegaly 4
13. Corneal clouding 4
14. Pulmonary function 4
15. Obstructive sleep apnea syndrome 3
16. Hearing problems 3
17. Cervical cord compression 2
18. Carpal tunnel syndrome 2
19. Abdominal hernia 1
20. Hip dysplasia 1
21. Recurrent otitis media 1
22. Macroglossia 1
23. Early surgical intervention 1
24. Affected sibling 1
  1. # Certain items were individually mentioned by the experts but were used as a single item in the sum score (for example, developmental delay and cognitive decline were counted together); such items explain why the number of experts proposing a certain item occasionally exceeds the total number of experts