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Body stalk anomaly and cloacal exstrophy

Courtney D Stephenson, DO
Charles J Lockwood, MD, MHCM
Andrew P MacKenzie, MD
Section Editors
Louise Wilkins-Haug, MD, PhD
Deborah Levine, MD
Deputy Editor
Vanessa A Barss, MD, FACOG


Body stalk anomaly and cloacal exstrophy are rare abdominal wall defects. Body stalk anomaly is generally considered to be lethal; early, accurate prenatal diagnosis allows parents the option of pregnancy termination. Early, accurate prenatal diagnosis of cloacal exstrophy is also advantageous as it provides an opportunity for discussing the child’s prognosis, particularly bowel, bladder, and sexual function. Parents may consider pregnancy termination or plan for delivery at a tertiary care facility where appropriate multidisciplinary care (eg, maternal fetal medicine, neonatology, and pediatric surgery [urology, neurosurgery, gynecology]) is available [1].


Body stalk anomaly (also called limb-body wall complex) is a massively disfiguring and generally lethal malformation of the thorax and/or abdomen, often associated with limb defects. The intrathoracic and abdominal organs lie outside the abdominal cavity and are contained within a sac comprised of amnioperitoneal membrane attached directly to the placenta (picture 1) [2,3]. The umbilical cord may be totally absent or extremely shortened. Severe kyphoscoliosis is often present.

Pathogenesis — Possible causes of body stalk anomaly include early amnion rupture with direct mechanical pressure and amniotic bands, vascular disruption of the early embryo, or an abnormality in the germinal disk [4]. Defects in genes related to embryogenesis may play a role [5].

The germinal disk abnormality is thought to represent complete failure of body folding along all three axes (cephalic, caudal, and lateral) during the sixth postmenstrual week [6]. Normal body folding results in separation of the intraembryonic coelom (future peritoneal cavity) from the extraembryonic coelom, formation of the body stalk, and development of the umbilical cord [7]. Aberrant cephalic folding leads to a defect in the thoracic wall and epigastrium, which allows development of ectopia cordis (image 1). Aberrant lateral folding results in herniation of the midabdominal contents into a large wide-based amnioperitoneal sac, which inserts peripherally onto the placental chorionic plate in lieu of an umbilical cord or with a very short umbilical cord.

Due to the extrusion of the intraabdominal contents, the spine and thoracic cavity do not develop symmetrically, which results in severe scoliosis and abnormalities of the axial skeleton. Malrotation of the spine and incomplete closure of the pelvis can lead to malrotated limbs and/or club feet.

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Literature review current through: Nov 2017. | This topic last updated: May 12, 2017.
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  1. Clements MB, Chalmers DJ, Meyers ML, Vemulakonda VM. Prenatal diagnosis of cloacal exstrophy: a case report and review of the literature. Urology 2014; 83:1162.
  2. Bronshtein M, Timor-Tritsch I, Rottem S. Early detection offetal anomalies. In: Transvaginal Sonography, Timor-Tritsch I, Rottem S (Eds), Chapman & Hall, New York 1991. p.327.
  3. Romero R, et al. Body stalk anomaly. In: Prenatal diagnosis of congenital anomalies, Romero R, et al (Eds), Appleton & Lange, Norwalk 1998. p.226.
  4. Van Allen MI, Curry C, Gallagher L. Limb body wall complex: I. Pathogenesis. Am J Med Genet 1987; 28:529.
  5. Gajzer DC, Hirzel AC, Saigal G, et al. Possible Genetic Origin of Limb-Body Wall Complex. Fetal Pediatr Pathol 2015; 34:257.
  6. Lockwood CJ, Scioscia AL, Hobbins JC. Congenital absence of the umbilical cord resulting from maldevelopment of embryonic body folding. Am J Obstet Gynecol 1986; 155:1049.
  7. Bianchi DW, Crombleholme TM, D'Alton ME. Body-stalk anomaly. In: Fetology: Diagnosis and Management of the Fetal Patient, 1st ed, McGraw-Hill Professional, New York 2000. p.453.
  8. Bugge M. Body stalk anomaly in Denmark during 20 years (1970-1989). Am J Med Genet A 2012; 158A:1702.
  9. Murphy A, Platt LD. First-trimester diagnosis of body stalk anomaly using 2- and 3-dimensional sonography. J Ultrasound Med 2011; 30:1739.
  10. Daskalakis G, Sebire NJ, Jurkovic D, et al. Body stalk anomaly at 10-14 weeks of gestation. Ultrasound Obstet Gynecol 1997; 10:416.
  11. Becker R, Runkel S, Entezami M. Prenatal diagnosis of body stalk anomaly at 9 weeks of gestation. Case report. Fetal Diagn Ther 2000; 15:301.
  12. Ginsberg NE, Cadkin A, Strom C. Prenatal diagnosis of body stalk anomaly in the first trimester of pregnancy. Ultrasound Obstet Gynecol 1997; 10:419.
  13. Goldstein I, Winn HN, Hobbins JC. Prenatal diagnostic criteria for body stalk anomaly. Am J Perinatol 1989; 6:84.
  14. Duhamel B. Embryology of Exomphalos and Allied Malformations. Arch Dis Child 1963; 38:142.
  15. Hiett AK, Devoe LD, Falls DG 3rd, Martin SA. Ultrasound diagnosis of a twin gestation with concordant body stalk anomaly. A case report. J Reprod Med 1992; 37:944.
  16. Lockwood CJ, Copel JA, Hobbins JC. Congenital anomalies. In: Assessment and Care of the Fetus, Appleton and Lange, East Norwalk, CT 1990. p.484.
  17. Aksoy F, Karayel FA, Ramazanoğlu R. Body stalk anomaly in monozygotic twinning: a case report. Turk J Pediatr 2000; 42:250.
  18. Shih JC, Shyu MK, Hwa SL, et al. Concordant body stalk anomaly in monozygotic twinning--early embryo cleavage disorder. Prenat Diagn 1996; 16:467.
  19. Vidaeff AC, Delu AN, Silva JB, Yeomans ER. Monoamniotic twin pregnancy discordant for body stalk anomaly: case report with nosologic implications. J Ultrasound Med 2005; 24:1739.
  20. Morrow RJ, Whittle MJ, McNay MB, et al. Prenatal diagnosis and management of anterior abdominal wall defects in the west of Scotland. Prenat Diagn 1993; 13:111.
  21. Chan Y, Silverman N, Jackson L, et al. Maternal uniparental disomy of chromosome 16 and body stalk anomaly. Am J Med Genet 2000; 94:284.
  22. Smrcek JM, Germer U, Krokowski M, et al. Prenatal ultrasound diagnosis and management of body stalk anomaly: analysis of nine singleton and two multiple pregnancies. Ultrasound Obstet Gynecol 2003; 21:322.
  23. Russo R, D'Armiento M, Angrisani P, Vecchione R. Limb body wall complex: a critical review and a nosological proposal. Am J Med Genet 1993; 47:893.
  24. Kanamori Y, Hashizume K, Sugiyama M, et al. Long-term survival of a baby with body stalk anomaly: report of a case. Surg Today 2007; 37:30.
  25. Keppler-Noreuil K, Gorton S, Foo F, et al. Prenatal ascertainment of OEIS complex/cloacal exstrophy - 15 new cases and literature review. Am J Med Genet A 2007; 143A:2122.
  26. Sadler TW, Feldkamp ML. The embryology of body wall closure: relevance to gastroschisis and other ventral body wall defects. Am J Med Genet C Semin Med Genet 2008; 148C:180.
  27. Feldkamp ML, Botto LD, Amar E, et al. Cloacal exstrophy: an epidemiologic study from the International Clearinghouse for Birth Defects Surveillance and Research. Am J Med Genet C Semin Med Genet 2011; 157C:333.
  28. Fullerton BS, Sparks EA, Hall AM, et al. High prevalence of same-sex twins in patients with cloacal exstrophy: Support for embryological association with monozygotic twinning. J Pediatr Surg 2017; 52:807.
  29. van der Putte SC, Spliet WG, Nikkels PG. Common ("classical") and covered cloacal exstrophy: a histopathological study and a reconstruction of the pathogenesis. Pediatr Dev Pathol 2008; 11:430.
  30. Duhamel B. Embryology of Exomphalos and Allied Malformations. Arch Dis Child 1963; 38:142.
  31. Gosden C, Brock DJ. Prenatal diagnosis of exstrophy of the cloaca. Am J Med Genet 1981; 8:95.
  32. Goyal A, Fishwick J, Hurrell R, et al. Antenatal diagnosis of bladder/cloacal exstrophy: challenges and possible solutions. J Pediatr Urol 2012; 8:140.
  33. Austin PF, Homsy YL, Gearhart JP, et al. The prenatal diagnosis of cloacal exstrophy. J Urol 1998; 160:1179.
  34. Gearhart JP, Ben-Chaim J, Jeffs RD, Sanders RC. Criteria for the prenatal diagnosis of classic bladder exstrophy. Obstet Gynecol 1995; 85:961.
  35. Hamada H, Takano K, Shiina H, et al. New ultrasonographic criterion for the prenatal diagnosis of cloacal exstrophy: elephant trunk-like image. J Urol 1999; 162:2123.
  36. Romero R. Prenatal Diagnosis of Congenital Anomalies, Appleton and Lange, East Norwalk, CT 1988. p.220.
  37. Wu JL, Fang KH, Yeh GP, et al. Using color Doppler sonography to identify the perivesical umbilical arteries: a useful method in the prenatal diagnosis of omphalocele-exstrophy-imperforate anus-spinal defects complex. J Ultrasound Med 2004; 23:1211.
  38. Chen CP, Chang TY, Liu YP, et al. Prenatal 3-dimensional sonographic and MRI findings in omphalocele-exstrophy-imperforate anus-spinal defects complex. J Clin Ultrasound 2008; 36:308.
  39. Calvo-Garcia MA, Kline-Fath BM, Rubio EI, et al. Fetal MRI of cloacal exstrophy. Pediatr Radiol 2013; 43:593.
  40. Kutzner DK, Wilson WG, Hogge WA. OEIS complex (cloacal exstrophy): prenatal diagnosis in the second trimester. Prenat Diagn 1988; 8:247.
  41. Meizner I, Levy A, Barnhard Y. Cloacal exstrophy sequence: an exceptional ultrasound diagnosis. Obstet Gynecol 1995; 86:446.
  42. Bianchi DW, Crombleholme TM, D'Alton ME. Cloacal exstrophy. In: Fetology: Diagnosis and Management of the Fetal Patient, 1st ed, McGraw-Hill Professional, New York 2000. p.459.
  43. Bischoff A, Calvo-Garcia MA, Baregamian N, et al. Prenatal counseling for cloaca and cloacal exstrophy-challenges faced by pediatric surgeons. Pediatr Surg Int 2012; 28:781.
  44. Hurwitz RS, Manzoni GA, Ransley PG, Stephens FD. Cloacal exstrophy: a report of 34 cases. J Urol 1987; 138:1060.
  45. Soffer SZ, Rosen NG, Hong AR, et al. Cloacal exstrophy: a unified management plan. J Pediatr Surg 2000; 35:932.
  46. Versteegh HP, van Rooij IA, Levitt MA, et al. Long-term follow-up of functional outcome in patients with a cloacal malformation: a systematic review. J Pediatr Surg 2013; 48:2343.
  47. Suson KD, Preece J, Di Carlo HN, et al. Complexities of Müllerian Anatomy in 46XX Cloacal Exstrophy Patients. J Pediatr Adolesc Gynecol 2016; 29:424.
  48. Warne SA, Wilcox DT, Creighton S, Ransley PG. Long-term gynecological outcome of patients with persistent cloaca. J Urol 2003; 170:1493.