Table 2 Rare bone and Mineral condition type of respondent
From: Patients’ priorities and expectations on an EU registry for rare bone and mineral conditions
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 |