Table 1 Baseline characteristics of the study population
Baseline characteristic | Study population (N = 186) |
|---|---|
Historical data collected (years)* | |
Total | 2384.6 |
Median (min, max) | 9.4 (2.0, 55.0) |
Country of enrolment, n (%) | |
Denmark | 10 (5.4) |
Germany | 64 (34.4) |
Sweden | 9 (4.8) |
Austria | 3 (1.6) |
Italy | 57 (30.6) |
Spain | 43 (23.1) |
Age at time of enrolment (years), n (%) | |
Mean (SD) | 21.7 (17.3) |
Median (Q1,Q3) | 14.9 (8.9, 30.8) |
Min, Max | 5.0, 84.4 |
Age subgroups at enrolment (years), n (%) | |
5–10 | 66 (35.5%) |
11–15 | 36 (19.4%) |
16–20 | 17 (9.1%) |
21–30 | 22 (11.8%) |
31–40 | 14 (7.5%) |
41–50 | 15 (8.1%) |
51–60 | 8 (4.3%) |
> 60 | 8 (4.3%) |
Gender, n (%) | |
Male | 85 (45.7%) |
Female | 101 (54.3%) |
Age at diagnosis of achondroplasia (months), n (%) | |
N | 137 |
Median (Q1, Q3) | 0.0 (0.0, 6.0) |
10th percentile | 0.0 |
90th percentile | 35.0 |
Type of confirmation of diagnosis of achondroplasia, n (%) | |
Confirmed first by a specialist through medical examination and/or radiological assessment followed by genetic testing | 80 (43.0%) |
Confirmed by medical examination and/or radiological assessment with no genetic testing | 69 (37.1%) |
Confirmed first by genetic testing followed by a specialist through medical examination and/or radiological assessment | 28 (15.1%) |
Confirmed by genetic testing with no confirmation by a specialist through medical examination and radiological assessment | 9 (4.8%) |
FGFR3 variant**, n (%) | |
N | 99 |
c.1138G > A p.Gly380Arg | 78 (78.8%) |
c.1138G > C p.Gly380Arg | 3 (3.0%) |
Other*** | 18 (18.2%) |