TABLE 2.
Summary statistics of reported achondroplasia birth prevalence
| Region | Birth prevalence per 100,000 median (IQR) a | Number of studies; number of estimates (% of total estimates) | Population size (% of overall population surveyed in the included studies) |
|---|---|---|---|
| Worldwide | 4.73 (3.10–10.83) | 52 b ; 90 (100%) | 48,453,349 (100%) |
| North America | 4.00 (3.57–4.95) | 9; 15 (16.7%) | 16,748,130 (34.57%) |
| South America | 3.20 (1.95–4.66) | 5; 6 (6.7%) | 8,463,833 (17.47%) |
| Europe c | 3.62 (2.71–5.54) | 13; 40 (44.4%) | 19,945,267 (41.16%) |
| North Africa/Middle East | 34.31 (16.53–52.25) | 13; 13 (14.4%) | 218,831 (0.45%) |
| Sub‐Saharan Africa | 12.60 (7.47–16.53) | 5; 5 (5.6%) | 224,680 (0.46%) |
| South and South‐East Asia/Oceania | 10.58 (4.39–12.82) | 11; 11 (12.2%) | 2,852.608 (5.89%) |
| Populations investigated in specialized care d | |||
| Yes | 13.43 (7.61–2,921) | 14; 14 (15.6%) | 524,538 (1.08%) |
| No | 4.08 (2.94–6.43) | 38; 76 (84.4%) | 47,928,811 (98.92%) |
Abbreviation: IQR, interquartile range.
Birth prevalence rates based on the numerator and denominators reported in the articles (i.e., number of cases/population size × 100,000).
Two studies reported results stratified for multiple regions (Kallen et al., 1993; Orioli et al., 1995). Eleven study estimates were excluded, all extracted from the study of Coi et al. (2019): four because numerator and denominator were not reported, and seven to prevent double inclusion of data (i.e., the overall data from all regions were excluded because that data were also included separately per region).
For the study of Coi et al., 2019 the data from the separate European countries are included in the analysis, instead of data of the countries combined.
Referral center/tertiary hospital.