Perinatology.  2019 Sep;30(3):147-153. 10.14734/PN.2019.30.3.147.

Clinical Study of 31 Polydactyly Cases Admitted to Neonatal Intensive Care Unit

  • 1Department of Pediatrics, Chungnam National University Hospital, Daejeon, Korea.
  • 2Korea Genetics Research Center, Cheongju, Korea.


To investigate polydactyly in neonates who were admitted to neonatal intensive care unit (NICU) due to urgent medical needs.
Retrospective chart review of polydactyly neonates admitted to NICU of Chungnam National University Hospital between September 1997 and September 2018 was carried out. Patient data, type of polydactyly accompanying anomalies, genetic testing and clinical follow-up after discharge were reviewed and analyzed.
Thirty-one neonates with polydactyly were admitted to NICU during the selected period. 61.3% were male. Most were admitted for the evaluation and treatment for other congenital anomalies. Ten neonates (32%) were small for gestational age. The most frequently observed forms of polydactyly were preaxial hand polydactyly and postaxial foot polydactyly. Cardiac anomalies (35%) were more frequent in the population than genitourinary tract anomalies (22%), central nervous system anomalies (22%), gastrointestinal tract anomalies (19%) and congenital hypothyroidism. Four neonates showed abnormal genetic finding. Three neonates were diagnosed syndromic disorder after discharge (CATCH22 syndrome, VACTERL association, Joubert syndrome). Pregnancy of these neonates was complicated by maternal diabetes (13%), hepatitis B virus (6%), exposure to herbal medicine or smoking (6%), pre-eclampsia and hypertension. Only one case in the study had positive family history for polydactyly.
Polydactyly could serve as a clue to syndromes and genetic disorders if associated with multiple major organ anomalies.


Newborn; Polydactyly; Anomaly

MeSH Terms

Central Nervous System
Clinical Study*
Congenital Hypothyroidism
Follow-Up Studies
Gastrointestinal Tract
Genetic Testing
Gestational Age
Hepatitis B virus
Herbal Medicine
Infant, Newborn
Intensive Care, Neonatal*
Retrospective Studies


  • Fig. 1 Patient number of polydactyly at neonatal intensive care unit for 21 years.


1. Malik S. Polydactyly: phenotypes, genetics and classification. Clin Genet. 2014; 85:203–212.
2. Ko JK, Lamichhane DK, Kim HC, Leem JH. Trends in the prevalences of selected birth defects in Korea (2008–2014). Int J Environ Res Public Health. 2018; 15:E923.
3. Umair M, Ahmad F, Bilal M, Ahmad W, Alfadhel M. Clinical genetics of polydactyly: an updated review. Front Genet. 2018; 9:447.
4. Swanson AB, Swanson GD, Tada K. A classification for congenital limb malformation. J Hand Surg Am. 1983; 8(5 Pt 2):693–702.
5. Kozin SH. Upper-extremity congenital anomalies. J Bone Joint Surg Am. 2003; 85:1564–1576.
6. Ahmed H, Akbari H, Emami A, Akbari MR. Genetic overview of syndactyly and polydactyly. Plast Reconstr Surg Glob Open. 2017; 5:e1549.
7. Biesecker LG. Polydactyly: how many disorders and how many genes? 2010 update. Dev Dyn. 2011; 240:931–942.
8. Temtamy SA, McKusick VA. The genetics of hand malformations. Birth Defects Orig Artic Ser. 1978; 14:i–xviii. 1–619.
9. Castilla EE, Lugarinho R, da Graça Dutra M, Salgado LJ. Associated anomalies in individuals with polydactyly. Am J Med Genet. 1998; 80:459–465.
10. Al-Qattan MM, Yang Y, Kozin SH. Embryology of the upper limb. J Hand Surg Am. 2009; 34:1340–1350.
11. Adam MP, Hudgins L, Carey JC, Hall BD, Coleman K, Gripp KW, et al. Preaxial hallucal polydactyly as a marker for diabetic embryopathy. Birth Defects Res A Clin Mol Teratol. 2009; 85:13–19.
12. 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:e81369.
13. 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; 70:572–579.
14. Pauli RM, Feldman PF. Major limb malformations following intrauterine exposure to ethanol: two additional cases and literature review. Teratology. 1986; 33:273–280.
15. Hackshaw A, Rodeck C, Boniface S. Maternal smoking in pregnancy and birth defects: a systematic review based on 173 687 malformed cases and 11.7 million controls. Hum Reprod Update. 2011; 17:589–604.
16. Filges I, Kang A, Hench J, Wenzel F, Bruder E, Miny P, et al. Fetal polydactyly: a study of 24 cases ascertained by prenatal sonography. J Ultrasound Med. 2011; 30:1021–1029.
17. Johns Hopkins University. OMIM® - Online Mendelian Inheritance in Man® [online]. 2019. cited 2019 Apr 22. Available from:URL:
18. Kim BJ, Choi JH, Kwon ST. Surgical treatment of axial polysyndactyly and postaxial polydactyly of the hand in Korean: a clinical analysis of 24 cases. J Korean Soc Surg Hand. 2017; 22:20–26.
19. Kim D, Park SK, Kim DC, Oh SJ, Yoo KY. Nationwide estimation for incidence at birth of congenital polydactyly and syndactyly in Korean. J Korean Soc Plast Reconstr Surg. 2003; 30:24–32.
20. Choi JS, Seo K, Han YJ, Lee SW, Boo YK, Lee SW, editors. Congenital anomaly survey and statistics. Sejong: Korea Institute for Health and Social Affairs;2009. Dec. Report No.: 11-1351000-000517-12.
21. Suhag A, Berghella V. Intrauterine growth restriction (IUGR): etiology and diagnosis. Curr Obstet Gynecol Rep. 2013; 2:102–111.
22. Pérez-Molina JJ, Alfaro-Alfaro N, López-Zermeño MC, García-Calderón MA. Polydactyly in 26,670 consecutive births. The clinical characteristics, prevalence and risk factors. Bol Med Hosp Infant Mex. 1993; 50:803–808.
23. 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; 56:226–232.
24. Castilla E, Paz J, Mutchinick O, Muñoz E, Giorgiutti E, Gelman Z. Polydactyly: a genetic study in South America. Am J Hum Genet. 1973; 25:405–412.
25. Malik S, Ullah S, Afzal M, Lal K, Haque S. Clinical and descriptive genetic study of polydactyly: a Pakistani experience of 313 cases. Clin Genet. 2014; 85:482–486.
26. Song MJ. Fetal sonography for the detection of chromosomal abnormality. J Korean Soc Ultrasound Med. 2011; 30:75–82.
27. Hollier LM, Leveno KJ, Kelly MA, MCIntire DD, Cunningham FG. Maternal age and malformations in singleton births. Obstet Gynecol. 2000; 96(5 Pt 1):701–706.
28. Man LX, Chang B. Maternal cigarette smoking during pregnancy increases the risk of having a child with a congenital digital anomaly. Plast Reconstr Surg. 2006; 117:301–308.
29. Honein MA, Paulozzi LJ, Watkins ML. Maternal smoking and birth defects: validity of birth certificate data for effect estimation. Public Health Rep. 2001; 116:327–335.
30. Tan J, Huang S, He G, Tang L, Ren Y, Zheng J, et al. Maternal hepatitis B surface antigen carrier status and its impact on neonatal outcomes: a cohort study of 21 947 singleton newborns in China. J Matern Fetal Neonatal Med. 2017; 30:2219–2224.
31. Ezaki M. Radial polydactyly. Hand Clin. 1990; 6:577–588.
32. Simmons BP. Polydactyly. Hand Clin. 1985; 1:545–565.
33. Faust KC, Kimbrough T, Oakes JE, Edmunds JO, Faust DC. Polydactyly of the hand. Am J Orthop (Belle Mead NJ). 2015; 44:E127–E134.
34. Katz K, Linder N. Postaxial type B polydactyly treated by excision in the neonatal nursery. J Pediatr Orthop. 2011; 31:448–449.
35. Samra S, Bourne D, Beckett J, Matthew M, Thomson JG. Decision-making and management of ulnar polydactyly of the newborn: outcomes and satisfaction. J Hand Surg Asian Pac Vol. 2016; 21:313–320.
36. Rathjen NA, Rogers TS, Garigan TP, Seehusen DA. Management of postaxial polydactyly in the neonatal unit. J Am Osteopath Assoc. 2017; 117:719–721.
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