Table 2.
Rare bone and Mineral condition type of respondent
| Condition | Adult with rare disease | Child with rare disease | Parent/guardian/carer | Total |
|---|---|---|---|---|
| (n) | (n) | (n) | (n) | |
| Achondroplasia | 3 | 0 | 8 | 11 |
| Aggrecan-related bone disorder | 0 | 0 | 1 | 1 |
| Arthrogryposis Multiplex Congenita | 0 | 0 | 1 | 1 |
| Diastrophic Dysplasia | 1 | 0 | 0 | 1 |
| FD/MAS | 19 | 0 | 3 | 22 |
| Fibrodysplasia Ossificans | 12 | 2 | 6 | 20 |
| Hereditary Multiple Exostosis | 14 | 0 | 4 | 18 |
| Hypoparathyroidism | 4 | 0 | 0 | 4 |
| Hypophosphatasia | 18 | 0 | 2 | 20 |
| Klippel Feil syndrome | 1 | 0 | 0 | 1 |
| Multiple Epiphyseal Dysplasia | 0 | 0 | 1 | 1 |
| Nail-Patella Syndrome | 0 | 1 | 0 | 1 |
| Ollier disease / Maffucci syndrome | 2 | 0 | 1 | 3 |
| Osteogenesis Imperfecta—Other Type | 17 | 1 | 9 | 27 |
| Osteogenesis Imperfecta—Type I | 86 | 3 | 26 | 115 |
| Osteogenesis Imperfecta—Type III | 47 | 1 | 10 | 58 |
| Osteogenesis Imperfecta—Type IV | 20 | 2 | 5 | 27 |
| Osteogenesis Imperfecta—Unknown Type | 27 | 2 | 7 | 36 |
| Osteopetrosis | 2 | 0 | 0 | 2 |
| Pseudoachondroplasia | 0 | 0 | 1 | 1 |
| Pseudohypoparathyroidsim | 0 | 1 | 0 | 1 |
| SAPHO | 43 | 0 | 3 | 46 |
| Sotos Syndrome | 0 | 0 | 1 | 1 |
| Spondylo-Epiphyseal Dysplasia | 2 | 0 | 2 | 4 |
| Stickler syndrome | 0 | 0 | 1 | 1 |
| XLH | 51 | 2 | 4 | 57 |
| Don't Know | 9 | 0 | 4 | 13 |
| Total | 378 | 15 | 100 | 493 |