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Purpose: Caudal duplication syndrome (CDS) has rarely been reported. The purpose was to describe the characteristics and discuss possible pathogenesis of CDS by reviewing our experience along with a comprehensive literature review. Methods: A total of 51 patients including 3 from our team and 48 from literature were selected in this study. General condition, clinical manifestations, type of anomalies, treatment and prognosis was analyzed and summarized. Results: Among the 51 patients were 30 females and 21 males, and age at first clinical visit was from birth to 39 years old. Except 12 patients, most of the patients had no troubling clinical manifestation. Physical examination showed that 30 patients had 1 perineum, 21 patients had 2 completely independent perineums. Degree of duplication varied; colon-rectum tubular, bladders and urethras, vaginas in females and penis shafts and glans in males were found to be the most common type of alimentary system and urogenital system duplication in this study with 24/51, 41/51, 10/30 and 16/21 patients, respectively. Anorectal malformation was calculated: 18 had 2 ARMs, 14 had 1 normal anus and 1 ARM on the other side, 12 had a normal anus, 5 had 2 normal anus, the remaining 2 patients had only 1 ARM. Spinal cord anomalies were showed as meningomyeloceles and lipomas in 13 and 3 patients. Vertebral anomalies of bifid, dysplasias, scoliosis, and hemivertebra were noticed in 28 patients and accessory dysplasia lower limbs were found in 10 patients. Prognosis showed 39 of the 51 patients had normal function in urination and defecation. Conclusions: CDS is an extremely rare disease with uncertain pathogenesis. Colon-rectum tubular duplication with two ARMs, duplicated bladders and urethras, double vaginas in females and penis shafts and glans in males are the most common type. Long-term prognosis is good with multidisciplinary, individualized and staged surgical procedures. [ABSTRACT FROM AUTHOR]

We describe an uncommon clinical presentation of caudal duplication syndrome and features of caudal regression syndrome in a female infant with complex urogenital and colorectal duplication associated with lipomyleomeningocele and left lower limb hypoplasia. A staged surgical treatment plan was carried out to maintain fecal and urine continence, potential fertility, and cosmetic appearance.

Caudal duplication syndrome (CDS) is a rare developmental anomaly in which embryonic cloaca and notochord structures are duplicated [1]. Due to the diverse clinical manifestation and rarity of CDS, it is crucial to report every case and to share experience and outcomes of individually adjusted management plans.We report here the case of a 2-year-old girl born with duplication of the urogenital (bladder, urethra, uterus, vagina, vulva) and gastrointestinal (gallbladder, appendix vermiformis) systems. Additionally, coccygeal agenesis, lipomyelomeningocele and vertical talus were present. A thorough examination and urological reconstructive surgery were performed.While there may be a desire from patients, parents and healthcare specialists to modify all malformations to an anatomically correct state, the current opinion is that only anatomical variants that influence function should be modified. Consent from patients should be sought for decisions regarding more sensitive matters such as vulva surgery for cosmetic reasons or correction of anatomical variants without functional consequences.

Introduction: The term caudal duplication syndrome (CDS) was first introduced for complex anomalies of the distal caudal end of the trunk. The pathoembryogenesis of CDS is yet unknown, although a few theories have been proposed. We reviewed the previously proposed pathoembryogenetic theories and suggested a new perspective through the common clinical characteristics shown in CDS cases reported in the literature. Methods: We conducted a systematic literature search of the online database PubMed from October 1993 to October 2020, using the search term "caudal duplication syndrome", according to the first mention of this entity. A total of 17 articles with 23 patients were reviewed. Results: The most common manifestations were the duplication of the distal colon, genitourinary organs, and lower spine. Specifically, the duplicated bladders or uteri contacted their counterpart through a septum, and the duplicated bowels ran parallel. More caudal structures, such as the urethra or anus, were formed separately. The duplication seems to be a result of division by an intervening septum or structure in each part. In addition, duplication was not limited to the structures formed from the caudal cell mass (CCM), such as the distal spine and spinal cord, but also included hindgut structures. Moreover, anomalies involving caudal mesenchymal defects were also present. Considering clinical manifestations that are related to all three germ layers and seemingly the overseptation of these germ layers in CDS patients, with supporting data from animal experiments, events such as late-stage errors involving Hensen's node/the primitive streak and the duplication of the CCM with the hyperplasia of the abnormally located central caudal mesenchyme are probable pathoembryogenetic mechanisms for CDS. The "leakage" of the normal growth power of the caudal mesenchyme into the intervening midline space between the two CCMs and consequent weak lateral and caudal pushes of the caudal mesenchyme may explain the association of caudal agenesis or its related anomalies with CDS. Conclusion: We propose a theory that by a molecular interaction, an insult causes late gastrulation phase problems, resulting in ectopic primitive streak formation, and therefore, a duplication of the CCM is induced. Subsequently, the overactivity of abnormally positioned midline mesenchyme between the two CCMs may divide the hindgut derivatives by a central septum. Underactive lateral and caudal pushes of the caudal mesenchyme may lead to an association of features shown in caudal agenesis. [ABSTRACT FROM AUTHOR]

Caudal duplication syndrome is a very rare anomaly and poses a major challenge for surgeons. The term caudal duplication syndrome is used to describe the association between hindgut duplication, duplication of the genitourinary, and malformations of the spinal cord and vertebrae. A 5-year-old girl is reported with complete duplication of the entire large bowel, cecum, appendix, about 2 cm of the terminal ileum, bladder, urethra, vagina, uterus, and vertebral body deformities. After an extensive evaluation phase, a laparotomy was performed and the duplicated colon was excised completely without removing the adjacent native colon.

Background and Objectives: Caudal duplication syndrome is a rare association of anatomical anomalies describing duplication of the hindgut, spine, and uro-genital structures, leading to varied clinical presentations. The current literature focuses on case reports which describe the embryological etiology and anatomical spectrum of the condition giving little attention to the surgical preparation, the need for a well-structured follow-up program, or the transition into adult healthcare of these complex patients. No reviews have been published regarding this complex pathology. Materials and Methods: A review of caudal duplication syndrome cases was done to assess the range of the clinical malformations, timing, and types of surgical interventions. Inconsistencies in multidisciplinary care, follow-up, and risk events were described. Results: Hindgut duplication always involved the anorectal region. Anorectal malformations were evenly distributed as unilateral and bilateral. Colon duplication extended from the anal region to the transverse colon or ascending colon in most of the cases and less to terminal. In females, genital duplication was present in all cases. The follow-up period varied between 3 months and 12 years. In all adult females, the motive of presentation was related to pregnancy (complications after successful delivery, fertility evaluation) or late complications (fecalith obstruction of the end-to-side colon anastomosis, repeated UTIs with renal scarring). Conclusions: Complex malformations affecting multiple caudal organs may have a strong impact in many aspects of the long-term quality of life; therefore, patients with caudal duplication syndrome need increased awareness and joined multidisciplinary treatment.

Abstract Caudal duplication syndrome is a rare entity that describes the association between congenital anomalies involving caudal structures and may have a wide spectrum of clinical manifestations. A full-term male presented with combination of anomalies including anorectal malformation, duplication of the colon and lower urinary tract, split of the lower spine, and lipomyelomeningocele with tethering of the cord. We report this exceptional case of caudal duplication syndrome with special emphasis on surgical strategy and approach combining all disciplines involved. The purpose of this report is to present the pathology, assessment, and management strategy of this complex case.

Caudal Duplication Syndrome is a rare case, congenital anomalies, involved the alimentary tract duplications and urogenital tracts duplication. The incidence is 1:100.000 births. We present a case of two months old female baby with abnormal genitalia and imperforate anus related to caudal duplication syndrome. On physical assessment we found duplication of vagina with single uterus and urethra with anorectal malformation (anovestibular and rectovaginal type). Intraoperative findings showed double-duplication of ascending colon, transverse, descending and half of sigmoid with duplication of the rest of sigmoid and rectum; left-sided rectum was adjacent to left vestibule and right-sided rectum adjacent to the right vagina; duplication of bladder and urethral duplication. On fourth, the reconstruction surgery was performed to correct digestive abnormality with Posterior Sagittal Anorectoplasy (PSARP) and separating duplication segment using stapler. Stapler was enough to separate duplication. Further reconstructive surgery were needed to achieve better gastrointestinal and genitourinary function outcome. [ABSTRACT FROM AUTHOR]

Introduction and Objectives. Diphallia, also known as penile duplication, diphallicterrata or diphallasparatus, is an extremely rare congenital anomaly, frequently associated with other malformations. The prognosis and optimal management of this pathology depend on the type of diphallia and the associated anomalies. Materials and Methods. This article presents the case of a newborn baby boy who was first admitted with complaints of abnormal appearance of the external genitalia and gluteal region and subsequently suffered two separate surgical interventions: one for the penile duplication and one for the gluteal and perineum assimetry. Results. The second procedure was more challenging given that the diagnosis of meningocele was discovered intraoperative and changed the operation planning, thus reflecting the poor initial medical assesment of the patient and prooving once more the importance of complete imaging studies in case of patients with diphallia. Conclusions. In spite of its rarity, penile duplication has a massive impact on both the patient's family and the medical staff. The treatment is complex and must be individualized depending on the form of diphallia and its associated anomalies, thus a complete imaging study should be performed. [ABSTRACT FROM AUTHOR]

Dipygus is a complete caudal duplication deformity in its severest form. The structures derived from the embryonic cloaca and notochords are duplicated to various extent. We report a male baby who presented to us with complete somatic and visceral duplication below the umbilical level associated with gastroschisis and imperforated anus. Staged surgical corrections were suggested and three out of the four stages were performed successfully.

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Abstract: ‘Caudal duplication syndrome’ was coined to describe the apparent duplication of organs derived from the hindgut, the neural tube and the adjacent mesoderm. Review of the anatomy suggests that the word ‘duplication’ may be a misnomer. This paper describes the management of 2 girls with caudal duplication syndrome who underwent multistage reconstructive surgery. Both had a large omphalocele and a severe diastasis of the pubic symphysis. The first patient also had an apparent duplication of the vulva, the perineum and the anus to either side of a wide midline. Each vulva contained a urethra, a hemi-clitoris with ipsilateral labium minor, and a hemi-vagina with hemi-uterus. The second child had an infrapubic sequestrated appendico-cecal duplication lying between two hemi-bladders each with ipsilateral ureter and urethra. The everted duplication split the single vulva longitudinally in the midline as far as the fourchette. To each side were a hemi-clitoris, and a hemi-vagina with hemi-uterus and ipsilateral fallopian tube. Analysis of our patients' anatomy and a literature review indicates for the most part ‘hemi’ organs on either side and suggests that the term ‘duplication’ is a misnomer such that caudal ‘split’ syndrome may be a more appropriate title. [Copyright &y& Elsevier]

Abstract: Caudal duplication syndrome is a very rare congenital deformity. A 13-year-old boy was born with duplicated colon-rectum and anus, diphallus, hydronephrosis of left kidney with megaureter, double bladders and urethras, and vertebral abnormalities. Multiple-stage correction was performed to remove the duplicated colon and the mucosa of the duplicated rectum. A new colon was reconstructed. The left kidney and megaureter were excised. The septum in the bladders was removed to convert the double bladders into a single bladder. The double phalluses were fused into a single penis. After these staged procedures, the boy is now living a normal life. [Copyright &y& Elsevier]

Caudal duplication syndrome (CDS) is a rare developmental anomaly in which embryonic cloaca and notochord structures are duplicated [1]. Due to the diverse clinical manifestation and rarity of CDS, it is crucial to report every case and to share experience and outcomes of individually adjusted management plans. We report here the case of a 2-year-old girl born with duplication of the urogenital (bladder, urethra, uterus, vagina, vulva) and gastrointestinal (gallbladder, appendix vermiformis) systems. Additionally, coccygeal agenesis, lipomyelomeningocele and vertical talus were present. A thorough examination and urological reconstructive surgery were performed. While there may be a desire from patients, parents and healthcare specialists to modify all malformations to an anatomically correct state, the current opinion is that only anatomical variants that influence function should be modified. Consent from patients should be sought for decisions regarding more sensitive matters such as vulva surgery for cosmetic reasons or correction of anatomical variants without functional consequences. [ABSTRACT FROM AUTHOR]

Dipygus is a complete caudal duplication deformity in its severest form. The structures derived from the embryonic cloaca and notochords are duplicated to various extent. We report a male baby who presented to us with complete somatic and visceral duplication below the umbilical level associated with gastroschisis and imperforated anus. Staged surgical corrections were suggested and three out of the four stages were performed successfully. [ABSTRACT FROM AUTHOR]

Caudal duplication syndrome is a very rare anomaly and poses a major challenge for surgeons. The term caudal duplication syndrome is used to describe the association between hindgut duplication, duplication of the genitourinary, and malformations of the spinal cord and vertebrae. A 5-year-old girl is reported with complete duplication of the entire large bowel, cecum, appendix, about 2 cm of the terminal ileum, bladder, urethra, vagina, uterus, and vertebral body deformities. After an extensive evaluation phase, a laparotomy was performed and the duplicated colon was excised completely without removing the adjacent native colon. [ABSTRACT FROM AUTHOR]

Abstract: Caudal duplication syndrome includes anomalies of the genitourinary system, gastrointestinal tract, and the distal neural tube. Caudal regression syndrome presents with lumbosacral hypogenesis, anomalies of the lower gastrointestinal tract, genitourinary system, and limb anomalies. Both happen as a result of insult to the caudal cell mass. We present a child having features consistent with both entities. [ABSTRACT FROM AUTHOR]

Background and Objectives: Caudal duplication syndrome is a rare association of anatomical anomalies describing duplication of the hindgut, spine, and uro-genital structures, leading to varied clinical presentations. The current literature focuses on case reports which describe the embryological etiology and anatomical spectrum of the condition giving little attention to the surgical preparation, the need for a well-structured follow-up program, or the transition into adult healthcare of these complex patients. No reviews have been published regarding this complex pathology. Materials and Methods : A review of caudal duplication syndrome cases was done to assess the range of the clinical malformations, timing, and types of surgical interventions. Inconsistencies in multidisciplinary care, follow-up, and risk events were described. Results: Hindgut duplication always involved the anorectal region. Anorectal malformations were evenly distributed as unilateral and bilateral. Colon duplication extended from the anal region to the transverse colon or ascending colon in most of the cases and less to terminal. In females, genital duplication was present in all cases. The follow-up period varied between 3 months and 12 years. In all adult females, the motive of presentation was related to pregnancy (complications after successful delivery, fertility evaluation) or late complications (fecalith obstruction of the end-to-side colon anastomosis, repeated UTIs with renal scarring). Conclusions : Complex malformations affecting multiple caudal organs may have a strong impact in many aspects of the long-term quality of life; therefore, patients with caudal duplication syndrome need increased awareness and joined multidisciplinary treatment.

Abstract: There are case reports of duplication of the colon, rectum, anus, urinary system, lower genital tract, and external genitalia, spinal anomalies, and abdominal wall defects. However, it is rare to encounter a single newborn with all of the mentioned abnormalities, which have been defined as the caudal duplication syndrome (CDS). Herein, we present a newborn with an omphalocele, duplex external genitalia (with duplex labia minora and labia majora), duplex urethral orifices, duplex vaginal orifices, and duplex anal dimple with imperforate anus and rectovestibular fistula on both sides. Exploration revealed duplex appendix, colon duplication, duplex uterus (continuing with tuba and ovaries on both sides), duplex rectum, malrotation of the intestines, with the cecum located in the middle of the abdomen, defect in the intestinal mesentery, and internal herniation of the small intestines through this defect. The intestines were operatively reduced and the defect repaired. [Copyright &y& Elsevier]

The authors describe a 31 year-old female who presented emergently with abdominal pain and was found at CT to have complete genitourinary duplication including separate urinary bladders, uteri, cervices, and vaginas, and also duplication of the rectum. No etiology for abdominal pain was identified. The patient was referred to urology for further evaluation, and an intravenous urographic study was obtained, which confirmed complete lower urinary tract duplication. The patient presented emergently 9 months later during a subsequent pregnancy for further evaluation of abdominal pain. A second CT scan was ordered to rule out appendicitis. Findings consistent with cloacal duplication were again noted. There was also dilatation of the urinary collecting systems, more prominently on the right side. A Cesarean section was performed and confirmed total genitourinary and rectal duplication.