Abstract
Objective
To describe the prevalence and epidemiology of congenital polydactyly and syndactyly in Hunan Province, China, 2016–2020.
Methods
Data were obtained from the Birth Defects Surveillance System in Hunan Province, China, 2016–2020. Prevalence of birth defects (polydactyly or syndactyly) is the number of cases per 1000 births (unit: ‰). Prevalence and 95% confidence intervals (CI) were calculated by the log-binomial method. Chi-square trend tests (χ2trend) were used to determine trends in prevalence by year. Crude odds ratios (ORs) were calculated to examine the association of each demographic characteristic with polydactyly and syndactyly.
Results
Our study included 847,755 births, and 14,459 birth defects were identified, including 1,888 polydactyly and 626 syndactyly cases, accounting for 13.06% and 4.33% of birth defects, respectively. The prevalences of total birth defects, polydactyly, and syndactyly were 17.06‰ (95%CI: 16.78–17.33), 2.23‰ (95%CI: 2.13–2.33), and 0.74‰ (95%CI: 0.68–0.80), respectively. Most polydactyly (96.77%) and syndactyly (95.69%) were diagnosed postnatally (within 7 days). From 2016 to 2020, the prevalences of polydactyly were 1.94‰, 2.07‰, 2.20‰, 2.54‰, and 2.48‰, respectively, showing an upward trend (χ2trend = 19.48, P < 0.01); The prevalences of syndactyly were 0.62‰, 0.66‰, 0.77‰, 0.81‰, and 0.89‰, respectively, showing an upward trend (χ2trend = 10.81, P = 0.03). Hand polydactyly (2.26‰ vs. 1.33‰, OR = 1.69, 95%CI: 1.52–1.87) and hand syndactyly (0.43‰ vs. 0.28‰, OR = 1.42, 95%CI: 1.14–1.76) were more common in males than females. Polydactyly (2.67‰ vs. 1.93‰, OR = 1.38, 95%CI: 1.26–1.51) and syndactyly (0.91‰ vs. 0.62‰, OR = 1.47, 95%CI: 1.26–1.72) were more common in urban areas than in rural areas. Compared to maternal age 25–29, hand polydactyly was more common in maternal age < 20 (2.48‰ vs. 1.74‰, OR = 1.43, 95%CI: 1.01–2.02) or ≥ 35 (2.25‰ vs. 1.74‰, OR = 1.30, 95%CI: 1.12–1.50).
Conclusion
In summary, we have described the prevalence and epidemiology of polydactyly and syndactyly from hospital-based surveillance in Hunan Province, China, 2016–2020. Our findings make some original contributions to the field, which may be valuable for future research.
Similar content being viewed by others
Introduction
Birth defects are structural or functional anomalies at or before birth [1]. The accepted prevalence of birth defects is about 2–3% worldwide [2]. Polydactyly refers to a birth defect of the hand or foot marked by the presence of supernumerary digits [3]. Syndactyly refers to a birth defect of the hand or foot marked by the webbing between adjacent fingers or toes [4]. The globally accepted prevalences of polydactyly and syndactyly were 0.3–3.6 and 0.3–1 per 1000 births, respectively [5, 6]. Polydactyly and syndactyly are the most common limb-related birth defects [5, 7] and one of the most common birth defects [8, 9]. Polydactyly and syndactyly cause cosmetic and functional impairments and may be associated with some syndromes [10,11,12], which may be a significant burden on the patients and their families. Therefore, studies on polydactyly and syndactyly are significant and deserve more attention.
There were some studies on the prevalence and epidemiology of polydactyly and syndactyly. E.g., the prevalences of polydactyly and syndactyly in China were 0.945‰ and 0.31‰, respectively [13, 14], in New York State were 2.34‰ and 0.74‰, respectively [15, 16], in South Korea were 1.157‰ and 0.309‰, respectively [17], in southern Thailand were 0.32‰ and 0.21‰, respectively [18]. Xiang et al. found that the prevalence of polydactyly was higher in males than females [19]. Dai et al. found that syndactyly was more common in urban than rural regions [14]. Zhou et al. found that the prevalence of polydactyly increased with maternal age [13]. There are huge variations in the prevalence and epidemiology of these reports, which were thought to be related to genetic mutations [5, 20] or environmental, extragenic, and stochastic factors [19, 21,22,23]. However, there are limitations in many previous studies. First, some studies had data limitations, such as relatively few cases included or surveys conducted in unrepresentative districts or hospitals, which may also contribute to the differences in the prevalence and epidemiology in different studies. Second, although some studies have reported the overall prevalence of polydactyly or syndactyly, few studied the prevalence and epidemiology of polydactyly or syndactyly in-depth, such as a comprehensive description and comparison of the prevalence of various specific types. Third, there are few systematic studies on polydactyly and syndactyly in China. Fourth, some studies needed to be updated.
Therefore, we conducted a comprehensive analysis based on hospital-based surveillance in Hunan Province, China, 2016–2020, to describe the prevalence and epidemiology of polydactyly and syndactyly, which may make some original contributions to the field.
Methods
Data sources
This study used data from the Birth Defects Surveillance System in Hunan Province, China, 2016–2020, which is run by the Hunan Provincial Health Commission and involves 52 representative registered hospitals in Hunan Province. In 1996, the Hunan Provincial Health Commission selected those hospitals as surveillance sites, which had undergone a comprehensive evaluation process by experts before the decision. Those 52 hospitals are distributed evenly throughout the province’s municipalities and have well-established services for diagnosing and registering birth defects. Live births in those hospitals account for approximately 1/4 of the total live births in the province. The surveillance population included all births (including live births, deaths, and legal termination of pregnancy at 28 weeks of gestation and beyond) and birth defects (between 28 weeks of gestation and seven days after delivery) in the surveillance sites. Surveillance data of births and birth defects included demographic characteristics such as sex, residence, maternal age (age of the mother became pregnant), and other key information.
The Birth Defects Surveillance System diagnosed and classified birth defects according to the International Classification of Disease, Tenth Revision (ICD-10). The ICD code for birth defects is Q00-Q99, polydactyly is Q69, and syndactyly is Q70. Polydactyly or syndactyly will be further classified into hand polydactyly (or syndactyly) and foot polydactyly (or syndactyly) according to where they occurred.
Definitions
Prevalence of birth defects (polydactyly or syndactyly) is the number of cases per 1000 births (unit: ‰). Perinatal deaths include stillbirths (fetal deaths with a gestation of 28 weeks or more) and early neonatal deaths (infant deaths less than 7 days of age). The perinatal mortality rate is the number of perinatal deaths per 100 births.
Informed consents
We confirmed that informed consent was obtained from all subjects and/or their legal guardian(s). Doctors obtain consent from pregnant women before collecting surveillance data, witnessed by their families and the heads of the obstetrics or neonatal departments. Doctors obtain consent from their parents or guardians for live births, witnessed by their families and the heads of the obstetrics or neonatal departments. Since the Health Commission of Hunan Province collects those data, and the government has emphasized the privacy policy in the “Maternal and Child Health Monitoring Manual in Hunan Province”, there is no additional written informed consent.
Ethics guideline statement
The Medical Ethics Committee of Hunan Provincial Maternal and Child Health Care Hospital approved the study. (NO: 2022-S65). It is a retrospective study of medical records; all data were fully anonymized before we accessed them. Moreover, we de-identified the patient records before analysis. We confirmed that all methods were performed following the relevant guidelines and regulations.
Data quality control
The Health Commission of Hunan Province formulated the Work Manual of Hospital Surveillance of Birth Defects in Hunan Province as the work standard for the whole province. Data were collected and reported by experienced doctors. To reduce the integrity and information error rates, we asked the technical guidance departments to carry out comprehensive quality control each year.
Statistical analysis
Prevalence and 95% confidence intervals (CI) were calculated by the log-binomial method [24]. Chi-square trend tests (χ2trend) were used to determine trends in prevalence by year. P < 0.05 was considered statistically significant. Crude odds ratios (ORs) were calculated to examine the association of each demographic characteristic with polydactyly and syndactyly.
Statistical analyses were performed using SPSS 18.0 (IBM Corp., NY, USA).
Results
Prevalence of total birth defects, polydactyly and syndactyly in Hunan Province, China, 2016–2020
Our study included 847,755 births, and 14,459 birth defects were identified, including 1,888 polydactyly and 626 syndactyly cases, accounting for 13.06% and 4.33% of birth defects, respectively. The prevalences of total birth defects, polydactyly, and syndactyly were 17.06‰ (95%CI: 16.78–17.33), 2.23‰ (95%CI: 2.13–2.33), and 0.74‰ (95%CI: 0.68–0.80), respectively. A total of 52 cases were polydactyly of both hand and foot, and 36 were syndactyly of both hand and foot.
From 2016 to 2020, the prevalences of birth defects were 18.20‰, 18.00‰, 16.31‰, 16.03‰, and 16.47‰, respectively, showing a downward trend (χ2trend = 30.83, P < 0.01); The prevalences of polydactyly were 1.94‰, 2.07‰, 2.20‰, 2.54‰, and 2.48‰, respectively, showing an upward trend (χ2trend = 19.48, P < 0.01); The prevalences of syndactyly were 0.62‰, 0.66‰, 0.77‰, 0.81‰, and 0.89‰, respectively, showing an upward trend (χ2trend = 10.81, P = 0.03). (Table 1)
The number of hand polydactyly, foot polydactyly, hand syndactyly, and foot syndactyly were 1597, 343, 342, and 320, respectively, and the prevalences were 1.88‰ (95%CI: 1.79–1.98), 0.40‰ (95%CI: 0.36–0.45), 0.40‰ (95%CI: 0.36–0.45), and 0.38‰ (95%CI: 0.34–0.42), respectively. And 5.72% (108 cases) of polydactyly and 5.91% (37 cases) of syndactyly were combined with other defects. (Table 2)
Prevalence of polydactyly and syndactyly by sex
Both polydactyly (2.71‰ vs. 1.69‰, OR = 1.60, 95%CI: 1.46–1.76) and syndactyly (0.84‰ vs. 0.62‰, OR = 1.35, 95%CI:1.15–1.58) were more common in males than females. Both hand polydactyly (2.26‰ vs. 1.33‰, OR = 1.69, 95%CI: 1.52–1.87) and hand syndactyly (0.43‰ vs. 0.28‰, OR = 1.42, 95%CI: 1.14–1.76) were more common in males than females, while no significant differences in the prevalence of foot polydactyly (0.44‰ vs. 0.36‰) or foot syndactyly (0.41‰ vs. 0.34‰) between males than females (The 95%CI for OR contains 1). (Table 3)
Prevalence of polydactyly and syndactyly by residence
Both polydactyly (2.67‰ vs. 1.93‰, OR = 1.38, 95%CI: 1.26–1.51) and syndactyly (0.91‰ vs. 0.62‰, OR = 1.47, 95%CI: 1.26–1.72) were more common in urban areas than in rural areas. When categorized by hand and foot, polydactyly or syndactyly was also more common in urban than rural areas in all groups (OR > 1, P < 0.05). (Table 4)
Prevalence of polydactyly and syndactyly by maternal age
For maternal age < 20, 20–24, 25–29, 30–34, and ≥ 35, the prevalences of polydactyly were 2.77‰, 2.11‰, 2.08‰, 2.28‰, 2.64‰, respectively, and the prevalences of syndactyly were 0.58‰, 0.82‰, 0.68‰, 0.76‰ and 0.81‰, respectively. Compared to maternal age 25–29, polydactyly was more common in maternal age ≥ 35 (2.64‰ vs. 2.08‰, OR = 1.27, 95%CI: 1.11–1.45), and hand polydactyly was more common in maternal age < 20 (2.48‰ vs. 1.74‰, OR = 1.43, 95%CI: 1.01–2.02) or ≥ 35 (2.25‰ vs. 1.74‰, OR = 1.30, 95%CI: 1.12–1.50). There were no significant differences in the prevalence of syndactyly or foot polydactyly among different maternal age groups (Reference: maternal age 25–29) (The 95%CI for OR contains 1). (Table 5)
Perinatal deaths and time of diagnosis for polydactyly and syndactyly
A total of 29 perinatal deaths attributable to polydactyly were identified, including 28 stillbirths and 1 early neonatal death (attributable to hand polydactyly), and 20 stillbirths were selective termination of pregnancy. A total of 23 perinatal deaths attributable to syndactyly were identified, and all of them were stillbirths, and 17 stillbirths were selective termination of pregnancy. The perinatal mortality rates of polydactyly and syndactyly were 1.54% and 3.67%, respectively, with significant differences in the prevalence (χ2 = 10.61, P = 0.001). Table 6 shows the details of perinatal deaths from polydactyly and syndactyly. (Table 6)
Most polydactyly (96.77%) and syndactyly (95.69%) were diagnosed postnatally (within 7 days). Table 7 shows the details of the time of diagnosis for polydactyly and syndactyly. (Table 7)
Discussion
Overall, we have described the prevalence and epidemiology of polydactyly and syndactyly. Our study is the most recent comprehensive study on the prevalence and epidemiology of polydactyly and syndactyly from long-term hospital-based surveillance data, which makes some original contributions to the field.
There were several meaningful findings. First, in this study, the prevalences of polydactyly and syndactyly were 2.23‰ and 0.74‰, respectively, which was within the globally acceptable range (The globally accepted prevalences of polydactyly and syndactyly were 0.3–3.6 and 0.3–1 per 1000 births, respectively [5, 6]). However, there were huge variations in the reported prevalences of polydactyly and syndactyly in different countries. In contrast, the variations between different regions in China were relatively small, as shown in Table 8 [8, 13,14,15,16,17,18, 25,26,27,28,29]. We believed these differences were mainly related to ethnicity and genetics [5, 30, 31]. In addition, data sources may also contribute to the differences, as many studies were based on relatively few cases included or surveys conducted in unrepresentative districts or hospitals.
Second, from 2016 to 2020, the prevalence of birth defects showed a downward trend, while the prevalences of polydactyly and syndactyly showed upward trends. The downward trend in the prevalence of birth defects may be mainly related to improvements in prenatal screening and diagnosis technologies, causing more and more birth defects diagnosed early in pregnancy (before 28 weeks of gestation) and selective termination, which were not used to calculate the prevalence of birth defects. E.g., most Down syndromes are diagnosed and terminated in the second trimester due to prenatal screening and diagnosis [32]. The prevalence of Down syndrome was 1.49 per 10,000 fetuses in Hunan Province, China, 2010–2020 [33], which was significantly lower than the accepted prevalence (almost 1 in 600 live births) [34]. In comparison, most polydactyly and syndactyly were diagnosed postnatally, and few perinatal deaths were associated with polydactyly and syndactyly. Moreover, we infer that the upward trends in the prevalences of polydactyly and syndactyly may be related to some other factors, such as China’s two-child policy since 2014 [35], number of pregnancies, socioeconomic conditions, et al., which were rarely addressed in previous studies. Our findings provide clues for future research.
Third, polydactyly and syndactyly were more common in males than females, consistent with most previous studies in China [13, 14, 19, 36, 37] and also some other countries, such as South Korea [17] and Ireland [38]. However, polydactyly and syndactyly were more common in females than males in some Middle Eastern and European countries [39,40,41]. In addition, hand polydactyly and hand syndactyly were more common in males than females. However, there were no significant differences in the prevalence of foot polydactyly or foot syndactyly between males and females. It indicates that the higher prevalence of polydactyly (or syndactyly) in males may be caused mainly by hand polydactyly (or syndactyly) but not foot polydactyly (or syndactyly). Overall, the mechanisms of this phenomenon are unclear. As discussed above, these differences may be mainly related to differences in ethnicity and genetics.
Fourth, polydactyly and syndactyly were more common in urban areas than rural areas. There were also different results from different studies. E.g., Dai et al. found a higher prevalence of syndactyly in urban areas [14]; Zhou et al. found no significant difference in the prevalence of polydactyly between urban and rural areas [13]. There are several reasons for this phenomenon. On the one hand, due to differences in socioeconomic conditions between urban and rural areas, there may be differences in hospital delivery rates and diagnosis rates [42]. It is also the reason for many specific defects, such as congenital heart defects, hypospadias, cleft palate, and Down syndrome, which are more common in urban areas than in rural areas [33, 43]. On the other hand, differences in some factors between urban and rural areas may also contribute to polydactyly and syndactyly, such as air pollution and hazardous chemicals [22, 44, 45]. However, those factors were not included in our study due to data limitations, which were rarely addressed in previous studies. Our findings provide clues for future research.
Fifth, low (< 20) or advanced (≥ 35) maternal age were associated with polydactyly. Several studies also found higher prevalences of polydactyly in low maternal age [33, 46, 47]. Jennita et al. found that low maternal age was not associated with polydactyly after adjusting for parity [47]. However, few studies reported higher prevalences of polydactyly in advanced maternal age. In addition, the occurrence of syndactyly appeared independent of maternal age, consistent with several previous studies [33, 48]. However, Hay et al. found a positive relation between increasing maternal age and increasing prevalence of syndactyly [49]. It indicates that low or advanced maternal age may contribute to those results, or some risk factors are more common in low or advanced maternal age, while maternal age is a confounding factor. Moreover, the higher prevalence of polydactyly in low or advanced maternal age may be caused mainly by hand polydactyly but not foot polydactyly, which was similar to the difference between males and females. Castilla et al. believed that the rudimentary structure of upper limb digits in humans gives less margin for developmental errors and a more common under-ascertainment of defective toes [50]. Our findings seem to support this view. Our findings make some original contributions to the field.
Some things could be improved in our study. First, we have realized that a regression analysis of risk factors for congenital malformations (polydactyly and syndactyly) such as male gender, city, and maternal age was important. However, since in the Birth Defects Surveillance System, reports of the number of births (mainly grouped by sex, residence, and maternal age) and case cards of congenital malformations were collected separately, we were unable to combine them. Therefore, we were unable to perform a regression analysis of risk factors for congenital malformations. Moreover, we were unable to calculate the prevalence of polydactyly and syndactyly by demographic characteristics except for sex, residence, and maternal age. Second, some potential factors for polydactyly and syndactyly were not included due to data limitations, such as parity and paternal age. Third, many cases had multiple specific defects. However, we did not analyze it. Fourth, our study did not provide genetic types for polydactyly and syndactyly. More studies need to be done in the future.
Conclusion
In summary, we have described the prevalence and epidemiology of polydactyly and syndactyly from hospital-based surveillance in Hunan Province, China, 2016–2020. Our findings make some original contributions to the field, which may be valuable for future research.
Data availability
All data generated or analyzed during this study are included in this published article.
References
World-Health-Organization. Congenital anomalies 2020 [cited 2022 2022-1-1]. Available from: https://www.who.int/news-room/fact-sheets/detail/congenital-anomalies.
Corsello G, Giuffrè M. Congenital malformations. J Matern Fetal Neonatal Med. 2012; 25 Suppl 1: 25–29. Epub 20120314. https://doi.org/10.3109/14767058.2012.664943 PMID: 22356564.
National-Library-of-Medicine. Polydactyly 1994 [updated 199420230101]. Available from: https://www.ncbi.nlm.nih.gov/mesh/68017689.
Medicine NL. Syndactyly 1994 [cited 2023 20230101]. Available from: https://www.ncbi.nlm.nih.gov/mesh/68013576.
Malik S. Polydactyly: phenotypes, genetics and classification. Clin Genet. 2014; 85(3): 203–212. Epub 20131018. https://doi.org/10.1111/cge.12276 PMID: 24020795.
Malik S. Syndactyly: phenotypes, genetics and current classification. European journal of human genetics: EJHG. 2012; 20(8): 817–824. Epub 2012/02/16. https://doi.org/10.1038/ejhg.2012.14 PMID: 22333904.
Braun TL, Trost JG, Pederson WC. Syndactyly Release. Semin Plast Surg. 2016; 30(4): 162–170. Epub 2016/11/30. https://doi.org/10.1055/s-0036-1593478 PMID: 27895538.
Zhou Y, Mao X, Zhou H, Wang L, Qin Z, Cai Z et al. Birth Defects Data From Population-Based Birth Defects Surveillance System in a District of Southern Jiangsu, China, 2014–2018. Front Public Health. 2020; 8: 378. Epub 20200806. https://doi.org/10.3389/fpubh.2020.00378 PMID: 32850599.
Xie D, Yang T, Liu Z, Wang H. Epidemiology of Birth Defects Based on a Birth Defect Surveillance System from 2005 to 2014 in Hunan Province, China. PLoS One. 2016; 11(1): e0147280. Epub 2016/01/27. https://doi.org/10.1371/journal.pone.0147280 PMID: 26812057.
Stoll C, Dott B, Alembik Y, Roth MP. Associated congenital anomalies among cases with Down syndrome. Eur J Med Genet. 2015;58(12):674–80. https://doi.org/10.1016/j.ejmg.2015.11.003. Epub 2015/11/19. PMID: 26578241.
Farrugia MC, Calleja-Agius J, Polydactyly. A Review. Neonatal Netw. 2016; 35(3): 135–142. Epub 2016/05/20. https://doi.org/10.1891/0730-0832.35.3.135 PMID: 27194607.
Forsythe E, Beales PL. Bardet-Biedl syndrome. Eur J Hum Genet. 2013; 21(1): 8–13. Epub 2012/06/21. https://doi.org/10.1038/ejhg.2012.115 PMID: 22713813.
Zhou GX, Dai L, Zhu J, Miao L, Wang YP, Liang J, et al. [Epidemiological analysis of polydactylies in Chinese perinatals]. Sichuan Da Xue Xue Bao Yi Xue Ban. 2004;35(5):708–10. PMID: 15460426.
Dai L, Zhou GX, Zhu J, Mao M, Heng ZC. [Epidemiological analysis of syndactyly in Chinese perinatals]. Zhonghua Fu Chan Ke Za Zhi. 2004;39(7):436–8. PMID: 15347462.
Goldfarb CA, Shaw N, Steffen JA, Wall LB. The Prevalence of Congenital Hand and Upper Extremity Anomalies Based Upon the New York Congenital Malformations Registry. Journal of pediatric orthopedics. 2017; 37(2): 144–148. Epub 2016/04/15. https://doi.org/10.1097/bpo.0000000000000748 PMID: 27078227.
Swarup I, Zhang Y, Do H, Daluiski A. Epidemiology of syndactyly in New York State. World J Orthop. 2019; 10(11): 387–393. Epub 2019/12/17. https://doi.org/10.5312/wjo.v10.i11.387 PMID: 31840019.
Shin YH, Baek GH, Kim YJ, Kim MJ, Kim JK. Epidemiology of congenital upper limb anomalies in Korea: A nationwide population-based study. PLoS One. 2021; 16(3): e0248105. Epub 2021/03/11. https://doi.org/10.1371/journal.pone.0248105 PMID: 33690710.
Jaruratanasirikul S, Tangtrakulwanich B, Rachatawiriyakul P, Sriplung H, Limpitikul W, Dissaneevate P et al. Prevalence of congenital limb defects: Data from birth defects registries in three provinces in Southern Thailand. Congenit Anom (Kyoto). 2016; 56(5): 203–208. Epub 2016/09/02. https://doi.org/10.1111/cga.12154 PMID: 27580948.
Xiang Y, Bian J, Wang Z, Xu Y, Fu Q. Clinical study of 459 polydactyly cases in China, 2010 to 2014. Congenit Anom (Kyoto). 2016; 56(5): 226–232. https://doi.org/10.1111/cga.12163 PMID: 26953323.
Toufaily MH, Westgate MN, Lin AE, Holmes LB. Causes of Congenital Malformations. Birth Defects Res. 2018; 110(2): 87–91. https://doi.org/10.1002/bdr2.1105 PMID: 29377643.
Rogala EJ, Wynne-Davies R, Littlejohn A, Gormley J. Congenital limb anomalies:frequency and aetiological factors. Data from the Edinburgh Register of the Newborn (1964-68). J Med Genet. 1974; 11(3): 221–233. https://doi.org/10.1136/jmg.11.3.221 PMID: 4372353.
Shi J, Lv ZT, Lei Y, Kang H. Maternal occupational exposure to chemicals in the textile factory during pregnancy is associated with a higher risk of polydactyly in the offspring. J Matern Fetal Neonatal Med. 2020; 33(23): 3935–3941. Epub 20190325. https://doi.org/10.1080/14767058.2019.1593358 PMID: 30856359.
Materna-Kiryluk A, Jamsheer A, Wisniewska K, Wieckowska B, Limon J, Borszewska-Kornacka M et al. Epidemiology of isolated preaxial polydactyly type I: data from the Polish Registry of Congenital Malformations (PRCM). BMC Pediatr. 2013; 13: 26. Epub 20130219. https://doi.org/10.1186/1471-2431-13-26 PMID: 23421878.
Petersen MR, Deddens JA. A comparison of two methods for estimating prevalence ratios. BMC Med Res Methodol. 2008; 8: 9. Epub 20080228. https://doi.org/10.1186/1471-2288-8-9 PMID: 18307814.
Morris JK, Springett AL, Greenlees R, Loane M, Addor MC, Arriola L et al. Trends in congenital anomalies in Europe from 1980 to 2012. PLoS One. 2018; 13(4): e0194986. Epub 2018/04/06. https://doi.org/10.1371/journal.pone.0194986 PMID: 29621304.
Yeshayahu Y, Sagi A, Silberstein E. Polydactyly in the multiethnic ‘Negev’ population at southern Israel. J Pediatr Orthop B. 2014; 23(3): 274–276. https://doi.org/10.1097/bpb.0000000000000039 PMID: 24534999.
Bronberg R, Groisman B, Bidondo MP, Barbero P, Liascovich R. Birth prevalence of congenital anomalies in the City of Buenos Aires, Argentina, according to socioeconomic level. J Community Genet. 2020; 11(3): 303–311. Epub 2020/01/05. https://doi.org/10.1007/s12687-019-00449-0 PMID: 31900751.
Yu JR, Jin L, Xiao LH, Jin L. [Prevalence of birth defects in the Tongzhou District of Beijing between 2006 and 2012]. Zhongguo Dang Dai Er Ke Za Zhi. 2014;16(11):1133–7. PMID: 25406559.
Yang X, Zeng J, Gu Y, Fang Y, Wei C, Tan S et al. Birth defects data from hospital-based birth defect surveillance in Guilin, China, 2018–2020. Front Public Health. 2022; 10: 961613. Epub 20220824. https://doi.org/10.3389/fpubh.2022.961613 PMID: 36091541.
Umair M, Ahmad F, Bilal M, Ahmad W, Alfadhel M. Clinical Genetics of Polydactyly: An Updated Review. Front Genet. 2018; 9: 447. Epub 2018/11/22. https://doi.org/10.3389/fgene.2018.00447 PMID: 30459804.
Leck I, Lancashire RJ. Birth prevalence of malformations in members of different ethnic groups and in the offspring of matings between them, in Birmingham, England. Journal of epidemiology and community health. 1995; 49(2): 171–179. Epub 1995/04/01. https://doi.org/10.1136/jech.49.2.171 PMID: 7798046.
Huete-García A, Otaola-Barranquero M. Demographic Assessment of Down Syndrome: A Systematic Review. International journal of environmental research and public health. 2021; 18(1). Epub 2021/01/21. https://doi.org/10.3390/ijerph18010352 PMID: 33466470.
Zhou X, Cai S, Wang H, Fang J, Gao J, Kuang H et al. Update from a cohort study for birth defects in Hunan Province, China, 2010–2020. Sci Rep. 2023; 13(1): 20257. Epub 20231120. https://doi.org/10.1038/s41598-023-47741-1 PMID: 37985789.
Catalano RA. Down syndrome. Survey of ophthalmology. 1990; 34(5): 385–398. Epub 1990/03/01. https://doi.org/10.1016/0039-6257(90)90116-d PMID: 2139246.
Fan SL, Xiao CN, Zhang YK, Li YL, Wang XL, Wang L. How does the two-child policy affect the sex ratio at birth in China? A cross-sectional study. BMC Public Health. 2020; 20(1): 789. Epub 2020/05/29. https://doi.org/10.1186/s12889-020-08799-y PMID: 32460822.
Lin S, Tong K, Zhang G, Cao S, Zhong Z, Wang G. Clinical Characteristics and Distribution of Thumb Polydactyly in South China: A Retrospective Analysis of 483 Hands. J Hand Surg Am. 2020; 45(10): 938–946. Epub 2020/06/01. https://doi.org/10.1016/j.jhsa.2020.04.003 PMID: 32473835.
Yen CH, Chan WL, Leung HB, Mak KH. Thumb polydactyly: clinical outcome after reconstruction. J Orthop Surg (Hong Kong). 2006; 14(3): 295–302. Epub 2007/01/04. https://doi.org/10.1177/230949900601400312 PMID: 17200532.
McGarry K, Martin S, McBride M, Beswick W, Lewis H. The operative incidence of Syndactyly in Northern Ireland. A 10-Year review. Ulster Med J. 2021;90(1):3–6. Epub 2021/03/02. PMID: 33642625.
Cabrera González M, Pérez López LM, Martínez Soto G, de la Gutiérrez D. Prognostic value of age and Wassel classification in the reconstruction of thumb duplication. J Child Orthop. 2013; 7(6): 551–557. Epub 2014/01/17. https://doi.org/10.1007/s11832-013-0534-3 PMID: 24432120.
Al-Qattan MM. The distribution of the types of thumb polydactyly in a Middle Eastern population: a study of 228 hands. J Hand Surg Eur Vol. 2010; 35(3): 182–187. Epub 2009/12/17. https://doi.org/10.1177/1753193409352417 PMID: 20007421.
Manske MC, Kennedy CD, Huang JI. Classifications in Brief: The Wassel Classification for Radial Polydactyly. Clin Orthop Relat Res. 2017; 475(6): 1740–1746. Epub 2016/09/11. https://doi.org/10.1007/s11999-016-5068-9 PMID: 27613532.
Benavides E, Lupo PJ, Sosa M, Whitworth KW, Canfield MA, Langlois PH et al. Urban-rural residence and birth defects prevalence in Texas: a phenome-wide association study. Pediatr Res. 2022; 91(6): 1587–1594. Epub 20210816. https://doi.org/10.1038/s41390-021-01700-6 PMID: 34400788.
Yu Z, Li D, Sun L, Zhao X, Chang H, Cui L et al. Long-term trends in the incidence of congenital anomalies in Central China from 1997 to 2019. Public Health. 2022; 203: 47–52. Epub 20220113. https://doi.org/10.1016/j.puhe.2021.12.007 PMID: 35032914.
Zhang JY, Gong TT, Huang YH, Li J, Liu S, Chen YL et al. Association between maternal exposure to PM(10) and polydactyly and syndactyly: A population-based case-control study in Liaoning province, China. Environ Res. 2020; 187: 109643. Epub 20200511. https://doi.org/10.1016/j.envres.2020.109643 PMID: 32416360.
Jiang W, Liu Z, Ni B, Xie W, Zhou H, Li X. Modification of the effects of nitrogen dioxide and sulfur dioxide on congenital limb defects by meteorological conditions. Hum Reprod. 2021; 36(11): 2962–2974. https://doi.org/10.1093/humrep/deab187 PMID: 34382079.
Luo YL, Cheng YL, Gao XH, Tan SQ, Li JM, Wang W et al. Maternal age, parity and isolated birth defects: a population-based case-control study in Shenzhen, China. PLoS One. 2013; 8(11): e81369. Epub 20131125. https://doi.org/10.1371/journal.pone.0081369 PMID: 24282587.
Reefhuis J, Honein MA. Maternal age and non-chromosomal birth defects, Atlanta–1968–2000: teenager or thirty-something, who is at risk? Birth Defects Res A Clin Mol Teratol. 2004; 70(9): 572–579. https://doi.org/10.1002/bdra.20065 PMID: 15368555.
Chen ZY, Li WY, Xu WL, Gao YY, Liu Z, Li Q et al. The changing epidemiology of syndactyly in Chinese newborns: a nationwide surveillance-based study. BMC Pregnancy Childbirth. 2023; 23(1): 334. Epub 20230510. https://doi.org/10.1186/s12884-023-05660-z PMID: 37165329.
Hay S, Barbano H. Independent effects of maternal age and birth order on the incidence of selected congenital malformations. Teratology. 1972; 6(3): 271–279. https://doi.org/10.1002/tera.1420060304 PMID: 4345335.
Castilla EE, da Graca Dutra M, Lugarinho da Fonseca R, Paz JE. Hand and foot postaxial polydactyly: two different traits. American journal of medical genetics. 1997; 73(1): 48–54. Epub 1998/01/31 20:28. https://doi.org/10.1002/(sici)1096-8628(19971128)73:1<48::aid-ajmg10>3.0.co;2-r PMID: 9375922.
Acknowledgements
The authors thank the staff working for the Hunan Province Birth Defects Surveillance System, China, from 2016 to 2020.
Funding
A study on the predictive value of placental derived DNA methylation status in maternal peripheral blood for preeclampsia (NO: D202305028314).
Author information
Authors and Affiliations
Contributions
X.Z., T.L., H.K., D.X., J.H., and Y.Z. contributed to data collection. X.Z., J.F., H.W., J.X., C.C. and Y.J. analyzed the data and manuscript preparation. All authors contributed to the study’s conception and design and read and approved the final manuscript.
Corresponding authors
Ethics declarations
Ethics approval and consent to participate
The Medical Ethics Committee of Hunan Provincial Maternal and Child Health Care Hospital approved the study. (NO: 2022-S65). It is a retrospective study of medical records; all data were fully anonymized before we accessed them. Moreover, we de-identified the patient records before analysis. We confirmed that all methods were performed following the relevant guidelines and regulations. We confirmed that informed consent was obtained from all subjects and/or their legal guardian(s). Doctors obtain consent from pregnant women before collecting surveillance data, witnessed by their families and the heads of the obstetrics or neonatal departments. Doctors obtain consent from their parents or guardians for live births, witnessed by their families and the heads of the obstetrics or neonatal departments. Since the Health Commission of Hunan Province collects those data, and the government has emphasized the privacy policy in the “Maternal and Child Health Monitoring Manual in Hunan Province”, there is no additional written informed consent.
Consent for publication
Not Applicable.
Competing interests
The authors declare that the research was conducted without any commercial or financial relationships that could be construed as a potential conflict of interest.
Additional information
Publisher’s Note
Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.
Rights and permissions
Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
About this article
Cite this article
Zhou, X., Li, T., Kuang, H. et al. Epidemiology of congenital polydactyly and syndactyly in Hunan Province, China. BMC Pregnancy Childbirth 24, 216 (2024). https://doi.org/10.1186/s12884-024-06417-y
Received:
Accepted:
Published:
DOI: https://doi.org/10.1186/s12884-024-06417-y