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

Table 4 The 27 items occurring in the 20 case histories, in ascending order of frequency

Items	Frequency of occurrence (%)
1. Disturbed pulmonary function	5
2. Hypertrichosis	5
3. Sternum protruded	5
4. Cardiomyopathy	10
5. Macroglossia	10
6. Growth retardation	15
7. Hypotonia in infancy	15
8. Hydrocephalus	20
9. Carpal tunnel syndrome	25
10. OSAS	25
11. Hip dysplasia	30
12. Large head/frontal bossing*	35
13. Valvular heart disease	40
14. Early diagnosis (<1.5 yr)*	40
15. Inguinal hernia	40
16. Hearing problems	40
17. Developmental delay*	55
18. Dysostosis multiplex*	55
19. Kyphosis*	65
20. Abdominal hernia	70
21. Coarse facial features*	70
22. Early onset of symptoms (<1.5 yr)*	75
23. Joint stiffness/arthropathy/contractures	80
24. Hepatosplenomegaly	75
25. Corneal clouding	85
26. Recurrent otitis media	85
27. Recurrent upper airway infection	90

For the items marked with an*, there was a statistically significant difference in the median expert score between the cases with and without this item.