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 |