From: Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedure
Items | Rated to be of major importance by ≥50% of experts and as 'redundant' by none | Not present in any of the 20 patient descriptions |
---|---|---|
Included in first written round: | ||
1. Age at onset of symptoms (historical) | x | |
2. Age at diagnosis | ||
3. Coarse facial features | ||
4. Abdominal hernia | ||
5. Inguinal hernia | ||
6. Developmental delay | x | |
7. Cognitive decline | x | x |
8. Hydrocephalus | x | |
9. Cervical cord compression | x | |
10. Carpal tunnel syndrome | ||
11. Corneal clouding | ||
12. Elevated ocular pressure | x | |
13. Recurrent upper airway infections | ||
14. Recurrent otitis media | ||
15. Hearing disorders | ||
16. Pulmonary function | ||
17. Respiratory insufficiency | x | |
18. Obstructive sleep apnea syndrome | x | |
19. Valvular heart disease | ||
20. Cardiomyopathy | ||
21. Coronary artery disease | x | |
22. Hepatosplenomegaly | ||
23. Dysostosis multiplex | ||
24. Kyphosis | x | |
25. Hip dysplasia | ||
26. Toe walking | x | |
27. Joint stiffness/arthropathy/contractures | x | |
28. Growth retardation | ||
29. Premature death | x | |
30. Dermal melanocytosis | x | |
Proposed as additional items by the respondents: | ||
31. Positive family history | x | |
32. Hypertrichosis | ||
33. Macroglossia | ||
34. Hypotonia in infancy | ||
35. Protruded sternum | ||
36. Large head/frontal bossing | ||
37. Psychosis | x | |
38. Affected sibling | x | |
39. Early accelerated growth | x |