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doi:10.1111/j.1741-4520.2012.00387.x
ORIGINAL ARTICLE
Development of the human tail bud and splanchnic mesenchyme
Ryozo Hashimoto
Department of Integrated Medicine, Kariya Toyota General Hospital Takahama Branch, Aichi, Japan
ABSTRACT The purpose of this paper was to shed some
light on anorectal development from a viewpoint of the tail
bud and splanchnic mesenchyme for better understanding of
the morphogenesis of the human anorectum. Human embryos
ranging from Carnegie stage 11 to 23 (CS 11 to 23) were adopted
in this study. Seventeen embryos preserved at the Congenital
Anomaly Research Center of Kyoto University Graduate
School of Medicine were histologically examined. The cloaca,
extending caudally to the hindgut, was dramatically enlarged,
particularly both its dorsal portion and membrane, that is, the
cloacal membrane resulting from the development of the tailgut
derived from the tail bud. The splanchnic mesenchyme sur-
rounding the hindgut was spread out in the direction of the
urorectal septum ventrally, suggesting that it participated in the
formation of the septum. No fusion of the urorectal septum and
the cloacal membrane was found. The splanchnic mesenchyme
proliferated and developed into smooth muscle (circular and
longitudinal) layers from cranial to caudal along the hindgut.
The tail bud seems to cause both the adequate dilation of the
dorsal cloaca and the elongation of the cloacal membrane; its
dorsal portion in particular will be necessary for normal
anorectal development. The splanchnic mesenchyme developed
and descended toward the pectinate line and formed the inter-
nal sphincter muscle at the terminal bowel.
Key Words: human anorectum, splanchnic mesenchyme, tail bud,
tailgut, urorectal septum
INTRODUCTION
The development of the rectum and anal canal during the embry-
onic period in the human is not fully elucidated and still poses a
major challenge. The following are typical examples of embryo-
logical arguments relating to anorectal development. Controversy
remains about the mechanism of the division of the cloacal region
and the existence of internal sphincter muscle around the terminal
bowel fistula in anorectal agenesis (Paidas et al. 1999; Qi et al.
2000; Penington and Hutson 2003).
Classically, the active growth of the urorectum septum was
assumed to separate the cloaca (Dravis et al. 2004). Thus, the
septum moves caudally toward the cloacal membrane. Recently, the
development of the septum is considered to be more passive than
active. No fusion of the urorectal septum and the cloacal membrane
reportedly exist (van der Putte 1986; Nievelstein et al. 1998; Paidas
et al. 1999; Penington and Hutson 2003).
Correspondence: Ryozo Hashimoto, MD, PhD, Department of Integrated
Medicine, Kariya Toyota General Hospital Takahama Branch, 2-11,
Hieda-cho, 3-chome, Takahama-shi, Aichi-ken 444-1321, Japan. Email:
ryozo.hashimoto@toyota-kai.or.jp
Received May 24, 2012; revised and accepted August 20, 2012.
Congenital Anomalies 2013; 53, 27–33 27
The digestive tract originally develops from a simple tract, con-
sisting of endoderm that becomes the epithelial lining, and is sur-
rounded by the splanchnic mesoderm that differentiates into the
supporting wall (i.e. the muscle and connecting tissue). The inter-
actions between the endoderm and mesoderm play an important
role in gut formation (Roberts et al. 1995, 1998; de Santa Barbara
and Roberts 2002). As a result of cross-talk between the epithelial
and mesenchymal tissues, the endoderm of the gut differentiates
into the epithelium with specific features, while the mesoderm
differentiates into the smooth muscle and connecting tissue. The
higher level of the bowel (oral part) is specialized earlier than the
lower levels (anal part), in accordance with the general develop-
mental progress in the head-to-tail direction. Of the two surround-
ing smooth muscle layers originated from the splanchnic
mesenchyme, the circular muscle layer, located in the inner layer of
the gut, appears earlier than the longitudinal layer. The mesoderm
around the cloacal membrane that emerged from somites differen-
tiates into the genital tubercle on the ventral aspect, the genital fold
on either side, and the anal tubercles posteriorly. The posterior part
of the muscle develops into the external sphincter muscle. On the
other hand, the internal anal sphincter originates from the caudal
part of the splanchnic mesenchyme. Even in a case of high rectal
agenesis, there is condensation of the tissues for circular muscle
fiber that surrounds the actual orifice, or the terminal bowel fistula.
Various studies on human neonates with congenital anorectal
malformations have reported that the increased muscle around
the terminal bowel fistula is the internal anal sphincter muscle
(Stephens and Smith 1971; Pena and deVries 1982; Frenckner
1985; Meier-Ruge and Holschneider 2000); however, no internal
sphincter has been reported. Stephens (Stephens and Smith 1971)
first indicated a typical opinion about an operative approach to
high-type anorectal malformations in order to prevent fecal incon-
tinence postoperatively. The importance of the puborectal muscle
was emphasized and the internal muscle had no significance for
continence because of its absence or hypoplasia in high-type
anorectal agenesis. Since then, most pediatric surgeons have not
taken into account the existence of the internal sphincter muscle for
correction of high anorectal agenesis. On the other hand, Lambrecht
and Lierse (1987) demonstrated a well-developed internal anal
sphincter in neonatal piglets with high-type congenital anorectal
malformations, and recommended use of the proximal fistula for the
reconstruction.
Recent studies in appropriate animal models have only revealed
that the defect of dorsal cloacal membrane induced the anorectal
malformations (van der Putte and Neetson 1984; Hashimoto et al.
1993; Kluth et al. 1995). In the human, the pathogenesis of various
anorectal malformations in particular remains to be elucidated.
The aim of this paper was to show the normal development of the
anorectal region systematically in humans from the viewpoint of the
tailgut and the mesoderm, using human embryos during the embry-
onic period ranging in age from Carnegie stage (CS) 11 to 23.
© 2012 The Author
Congenital Anomalies © 2012 Japanese Teratology Society
28
MATERIALS AND METHODS
The human embryos examined in this study were from a large
collection of conceptuses obtained mostly from apparently normal
pregnancies terminated by dilation and curettage, and preserved in
the Congenital Anomaly Research Center of Kyoto University
(Nishimura 1975; Shiota 1991). The embryos were produced after
therapeutic abortions were performed on healthy women, with no
complications (Maternity Protection Law of Japan), and were
subsequently staged and preserved in formalin, Bouin’s or Lillies
fluid, some of which were serially sectioned for histological study.
Seventeen externally normal embryos at successive developmental
stages (Carnegie stages 11–23) were studied: number of specimens
(embryo’s no.)/ Carnegie stages; one (no. 4354)/CS 11; one (no.
644)/CS 12; one (no.1105)/CS13; two (no. 14664, no.14564)/CS
14; one (no. 120)/CS15; two (no. 13042, no. 1008)/CS17; two (no.
12166, no. 10309)/CS 18; one (no. 12172)/CS 19; two (no. 17268,
no. 1061)/CS 20; two (no. 3332, no. 3147)/CS 22 and two (no.
4381, no. 9026)/CS23. They were serially sectioned in the frontal,
sagittal, and transversal planes at a thickness of 10 mm, and stained
with hematoxylin and eosin (HE).
RESULTS
In an embryo of CS 11 (no. 4354), the tailgut began to form from
the tail bud (Fig. 1A,B). The tail bud mesenchyme differentiated
Fig. 1 Transverse sections of the tail in Carnegie stage (CS) 11 (A,B; no.
4354) and sagittal section of the caudal region in CS 12 (C, no. 644).
Tailgut ends in the tail bud, which generates the notochord and
tailgut. The tailgut composes part of the cloaca. C, cloaca; NOT,
notochord; NP, neural plate; TB, tail bud; TG, tailgut. Bars, 100 mm.
© 2012 The Author
Congenital Anomalies © 2012 Japanese Teratology Society
R. Hashimoto
into the tailgut, somite, notochord, vessel and secondary neural tube
(O’Rahilly and Muller 1994; Muller and O’Rahilly 2004), which
may be in part a continuation of mechanisms mediating gastrulation
(Marlow et al. 2004).
In an embryo of CS 12 (no. 644), folding of the embryo tail was
seen. The tail bud mesenchyme actively gave rise to the notochord,
spinal cord and tailgut (Fig. 1C). At this stage, the cloaca, extending
caudally to the tailgut, dramatically enlarged its dorsal portion in
particular due to development of the tail (Fig. 1C).
In an embryo of CS 13 (no. 1105), the cloacal membrane con-
sisting of apposed layers of the ectoderm and endoderm was thin
(Fig. 2A, and the tail bud still actively produced the derivatives
(Fig. 2B). The ventral portion of the tail region, particularly around
the cloaca, had a higher condensation of the mesenchyme than the
dorsal portion (Fig. 2A). This mesenchymal condensation devel-
oped the cloacal folds.
In an embryo of CS 14, the embryo showed the long tail, the
epithelium of the tailgut was similar to that of the cloaca, and the
dorsal cloaca was dilated and elongated (Fig. 3D, no.14564).
The cloacal membrane also elongated (Fig. 3D). As the epithelium
of the tailgut on the dorsal side was taller than that on the ventral
side, the ventral side epithelium appeared to be pressed by the force
of the tail folding (Fig. 3D). A partial thickening of the cloacal
membrane was seen (Fig. 3D). Not only proliferation of the cloacal
membrane itself but also the physical force of the tail folding
seemed to result in the thickening of the cloacal membrane. The
caliber of the tailgut appeared to be narrower in the middle than in
the distal portion (Fig. 3A–C, no. 14664). The proliferation of the
mesenchyme was not recognized around the narrowing tailgut
(Fig. 3D). The urorectal septum separated the cloaca into the uro-
genital sinus and the hindgut (Fig. 3D,E, no.14564). The splanchnic
mesenchme, observed with a higher condensation on the ventral
side of the hindgut (Fig. 3D,E), appeared on the cranial side of the
urorectal septum. It participated in the formation of the septum
(Fig. 3D,E), as was also shown in an embryo of CS 15 (Fig. 3F,
no. 120).
In an embryo of CS 17, the cloacal membrane increased in
thickness, and the growing genital tubercle was seen (Fig. 4A,C,
CM
TB
C
TG
S
S
S
S
S
S
NOT
NOT S
NT
A NT
B
Fig. 2 Transverse and frontal sections of an embryo in Carnegie stage 13
(A,B). The cloacal membrane is still a thin film at this developmen-
tal stage (A). Mesodermal cells gather around the ventral side of the
cloaca and hindgut (A,B). The neural tube, somite as well as tailgut,
derive from the tail bud (A,B). C, cloaca; CM, cloacal membrane;
HG, hindgut; S, somite; NOT, notochord; NT, neural tube. Bars,
100 mm.
 Development of the human anorectum 29

Fig. 3 Transverse and sagittal sections of embryos in Carnegie stage 14 (A–C, no. 14664; D and E, no. 14564) and 15 (F, no. 120). Tailgut becomes a long
(D) and narrow tube, and its center part is narrowest (A–C). In the sagittal section, the cloacal membrane elongates and the mass projecting into cloaca
is seen at center of cloacal membrane (D). Cells on dorsal side of the tailgut epithelium are taller and wider than on the ventral side (D). Splanchnic
mesenchyme participates in formation of the urorectal septum (E,F). Differentiation of splanchnic mesenchyme in the midgut advances earlier than
in hindgut (F). CM, cloacal membrane; HG, hindgut; TB, tail bud; TG, tailgut; URS, urorectal septum; US, urogenital sinus. (A–C,E) Bars, 200 mm.
(D,F) Bars, 400 mm.

no. 13042). Most of the tailgut had already disappeared, leaving
only its proximal part (Fig. 4A–D, no. 13042), which remained at
the dorsal side of the hindgut (Fig. 4A–D). A portion of the dorsal
cloacal wall decreased; thus, the urorectal septum was seen to
lie closer to the cloacal membrane (Fig. 4A–D, no. 13042; 4E, no.
1008). Mesodermal proliferations were seen around the cloacal
membrane (Fig. 4B,E).
In an embryo of CS 18 (no. 12166) the urorectal septum situated
very close to the cloacal membrane; however, no fusion of them was
found. Although disintegration of the dorsal part of the cloacal
membrane was clear, there was still no tearing of the membrane
(Fig. 5A, no. 12166). The cloacal membrane was connected with
the epithelium of the hindgut (Fig. 5A). The connection between
the cloacal membrane and the hindgut was found just under the
caudal top of the urorectum septum (Fig. 5A). The trunk began to
straighten (Fig. 5B, no.10309). The contact point between the
cloacal membrane and the hindgut (i.e. future anus), was brought
into the position just beneath the tip of the urorectal septum by the
straightening of the trunk. The disintegration of the cloacal mem-
brane was advanced in the dorsal rather than the ventral portion
(Fig. 5A,B), which probably reflected a greater developmental
speed in the anorectum system than the urogenital system. In this
stage the hindgut was surrounded by a thick condensation of
splanchnic mesenchyme from which the smooth muscle differenti-
ated (Fig. 5B). In addition, the density of the splanchnic mesen-
chyme in the cranial side was higher than on the caudal side. The
developmental maturity level of the gut corresponded to the density
level of the splanchnic mesenchyme (Fig. 5B).
In an embryo of CS 19 (no. 12172), the tail still remained but
became very short (Fig. 6A). The splanchnic mesenchyme was seen
to be arranged so as to form a triangle with the caudal side as the top
and the cranial side as the base (Fig. 6B), as a result of the cranial-
caudal development of the splanchnic mesenchyme. In embryos of
CS 20, the anus was seen (Fig. 6C, no. 17268; 6D-F, no. 1061), and
there was a membrane at the terminal end of the rectum (Fig. 6C).
The rectal epithelium in which the thicker surrounding mesen-
chyme existed was taller (Fig. 6C). Aside from the splanchnic mes-
enchyme, there was a gathering of the mesenchymal cells around
the anus (Fig. 6C). Although the circular muscle layer there
decreased in thickness as it approached the anus (Fig. 6D–F), it
increased in thickness once immediately before arriving at the anus
and disappeared at the terminal end of the rectum (Fig. 6D–F). This
strong ring-shaped muscle in the lower rectum was regarded as
anlagen of the internal anal sphincter (AIS) (Fig. 6E).
In embryos of CS 22 and 23, the primordium of the internal anal
sphincter was seen (Fig. 7A, no.3332; 7B, no. 3147; 7C, no. 4381).
The longitudinal muscle layer still reached the mesenchymal con-
densation around the anus (i.e. the anlagen of the external anal
sphincter muscle) over the circular muscle layer whose terminal
end was thickened; viz., the anlagen of internal anal sphincter
(Fig. 7A–C).
In an embryo of CS 23, as the development of the urogenital
sinus lagged behind that of the hindgut, the urogenital tracts
and digestive tract were seen to have a common outlet (Fig. 7E,
no. 9026).
DISCUSSION
Tail bud
The cloacal membrane composed of the ectoderm and the endo-
derm is located dorsal to the primitive streak whose derivative

© 2012 The Author

Congenital Anomalies © 2012 Japanese Teratology Society
30
Fig. 4 Sagittal sections of Carnegie stage 17 embryos, showing positional
relationships among cloacal membrane, urorectal septum, hindgut
and tailgut. (A–D) Sequential sagittal sections from the paramedian
to the mid-sagittal plane of no. 13042 embryo. (E) Mid-sagittal
section of no. 1008 embryo. Genital tubercle begins to develop, and
gradually increases in size. Mesenchymal swelling is noticed on the
dorsal side of the dorsal cloacal epithelium between the dorsal
cloacal membrane and tailgut (A–D). Note the observable tailgut
(A–D) and the disintegrated dorsal part of the cloacal membrane
(D,E). Shortening of the dorsal cloaca and the disintegration of
dorsal cloacal membrane are recognized (C). CM, cloacal mem-
brane; GT, genital tubercle; HG, hindgut; TG, tailgut; URS,
urorectal septum; US, urogenital sinus. (A,C) Bars, 400 mm.
(B,D,E) Bars, 200 mm.
forms the tail bud (Muller and O’Rahilly 2004). The tail bud gen-
erates the tailgut, blood vessels, coelom, notochord, somites and
spinal cord in human embryo (O’Rahilly and Muller 1994). During
CS 11, the embryo’s body form changed from straight or slightly
curved to curved due to the head and tail folds. The tail fold, caused
by the developing spinal cord, induced the dilation of the terminal
part of the hindgut as the cloaca. In CS 19, the trunk of the embryo
became straight again, and the caudal curvature of embryonic body
decreased in accordance with the regression of the tail. The human
tail is a transient structure; thus, once formed, it then regresses as a
result of the programmed and necrotic cell death in the tail region
© 2012 The Author
Congenital Anomalies © 2012 Japanese Teratology Society
R. Hashimoto
Fig. 5 Mid-sagittal sections through the cloacal system of Carnegie stage
18 embryos (A, no. 12166; B, no. 10309). The dorsal cloaca wall
disappears and the dorsal cloacal membrane continues into the
hindgut (A). Mesenchymal swelling around the hindgut is seen (A).
Note splanchnic mesenchymal condensation around digestive tube,
and extrusion of the midgut into the umbilical cord (arrow in B)
as a result of more rapidly growing gut than growing body (B).
CM, cloacal membrane; GT, genital tubercle; HG, hindgut;
SM, splanchnic mesenchyme; URS urorectal septum; US, urogeni-
tal sinus. (A) Bar, 400 mm. (B) Bar, 1 mm.
(Sapunar et al. 2001). It is generally known that the developing
human tail consists of the tail bud and its derivatives subsequently
regress completely during CS 23.
In the present observations, the tailgut with scarce surrounding
mesenchyme disappeared as the growth of the embryo advanced.
The dorsal cloaca close to the tailgut with scarce surrounding mes-
enchyme also disappeared. The dorsal cloaca wall appeared to be
much shortened in CS 17 embryos (no. 13042, no. 1008), in com-
parison with the dorsal cloacal wall in the CS 14 embryo (no.
14564). Obviously, the regression of the dorsal cloacal wall would
facilitate a positional shift of the dorsal cloacal membrane directed
to the hindgut. This developmental event resulted from the trans-
formation of embryo, and the apoptosis of the dorsal cloacal wall
has been reported to be one of the causes (Penington and Hutson
2003).
The important point to note is not the end of the tailgut but its
beginning, which was observed in a CS 12 embryo (no. 644). The
hindgut’s dilation in the terminal portion, the dorsal cloaca in par-
ticular, appeared to be induced by the development of the tailgut. The
tail bud appeared to aggressively give rise to the tailgut, thereby
elongating the cloacal membrane and dilating dorsal cloaca as seen
in a CS 14 embryo (no.14564). Consequently, in normal anorectal
development, the tail bud caused the dilation of the dorsal cloaca and
the elongation of the cloacal membrane, and then the regression of
the dorsal cloaca served to facilitate the positional shift of the
disintegrating dorsal cloacal membrane directed to the hindgut. Both
events will play an important role in establishing the anorectum.
The dorsal part of the cloacal membrane has been postulated to
bring the cloacal cavity to the anus (van der Putte and Neetson
1984; Hashimoto et al. 1993; Kluth et al. 1995), while removal
of the tail bud caused the cloacal and tail anomalies in chick
embryos (Schoenwolf 1978) and in the mouse-embryo with high-
type anorectal malformations induced by all-trans retinoic acid
(chemical-induced anorectal malformation model), the noticeable
cell death was observed at the tail bud (Hashimoto et al. 1993).
The disorder of the tail bud, which generates the tailgut, seems to
cause inadequate dilation of the dorsal cloaca, which may well
trigger the defect of the dorsal cloacal membrane.
 Development of the human anorectum
Fig. 6 Sagittal sections of Carnegie stage (CS) 19 embryo (A,B, no.
12172), sagittal section of CS 20 embryo (C, no. 17268) and
sequential transverse sections of CS 20 embryo (D–F, no. 1061).
Genital tubercle grows rapidly; however, development of the uro-
genital system lagged behind that of the anorectal system (A–C).
The anus is seen (C). Splanchnic mesenchyme that had surrounded
the rectum decreased toward the caudal side (A–C). A membrane at
the anus is seen (C). Rectal epithelium underlying the splanchnic
mesenchyme is tall, and the caudal end of splanchnic mesenchyme
is adjacent with the mesenchymal swelling around the anus (trian-
gle in C). (D–F) In the micrographs, sequential transverse sections
from the rectum to the anal canal plane of the rectum. The circular
muscle layer is found (star in D,E). In the terminal portion of the
rectum, circular muscle layer increases in thickness, which is the
primordium of the external anal sphincter muscle (E). Mesenchy-
mal cells arranged toroidally are sparse; that is, anlagen of external
sphincter is seen in surroundings of the anal canal (double star in F).
Mesenchymal swelling around the anus is the primordium of the
internal sphincter muscle (MCA in E). A, anus; AC, anal canal;
MCA, mesenchyme around the anus; R, rectum; SM, splanchnic
mesemchyme; US, urogenital sinus. (A–F) Bars, 200 mm.
Splanchnic mesenchyme
Interactions between the epithelial cells and their underlying mes-
enchymal cells are required for development of the digestive tract
during organogenesis. The cross-talk between them is a key to gut
formation (Roberts et al. 1995, 1998; de Santa Barbara and Roberts
2002). The smooth muscle cells surrounding the gut differentiate
from the splanchnic mesenchyme derived from the mesoderm
formed during gastrulation. The differentiation of mesenchyme into
31
Fig. 7 Sagittal sections of Carnegie stage 22 (A, no. 3332 and B, no. 3147)
and 23 (C, no. 4381; D and E, no. 9026) embryos. Anlagen of
internal anal sphincter (A–C) and mesenchymal condensation
around the anus are seen (A–D). Longitudinal mesenchymal layer
(triangle in A and B) reaches to the mesenchymal condensation
around the anus, and extends inward to the internal anal sphincter
and outward to the mesenchymal condensation around the anorec-
tum; that is, the anlage of the levator ani (square in B). Note where
the longitudinal mesenchymal layer reaches the mesenchyme
around the anus (star in C). As urogenital system development to
anorectum is delayed, the digestive tract appears to run into the
persistent cloaca (A). a, anus; IAS, anlagen of the internal anal
sphincter muscle; MCA, mesenchyme around anus (including the
anlagen of the external anal sphincter); R, rectum. (A–E) Bars,
200 mm.
the muscularis in the hindgut lags behind that in the foregut and
midgut. In chick embryos, Hoxa 13 and Hoxd 13 were expressed in
the mesoderm and endoderm of the hindgut and in the endoderm of
the cloaca (Roberts et al. 1995; Yokouchi et al. 1995; de Santa
Barbara and Roberts 2002). It was postulated that the endodermal
Hoxa 13, probably derived from the caudal endoderm, would be
required for the normal posterior gut development in correlation to
tail development (de Santa Barbara and Roberts 2002; Fritsch et al.
2007).
In the present observation, the splanchnic mesenchyme seemed
to play a vital role in the formation of the rectum, especially in the
development of the urorectal septum and the internal anal sphincter
muscle.
The urorectal septum known as a wedge of mesenchyme is com-
posed of the anterior intestinal, posterior urogenital and cloacal fold
© 2012 The Author
Congenital Anomalies © 2012 Japanese Teratology Society
32
mesenchyme. In this study, the splanchnic mesenchyme of the
CS 14’s embryo spreading out in the direction of the urorectal
septum was observed; the splanchnic mesenchme on the ventral
side of the hindgut participates in formation of the urorectal septum
from the cranial side. In an embryo of CS 18 (no. 12166), the dorsal
part of the cloacal membrane, which had thinned but not broken,
was connected with the epithelium of the hindgut. In addition, no
fusion of the urorectum septum and the cloacal membrane was
seen.
The proliferation of the splanchnic mesoderm at the terminal
portion of the hindgut was observed in CS 22 (no. 3332, no. 3147)
and 23 (no. 4381, no. 9026). The splanchnic mesenchyme devel-
ops and proliferates along the endodermal tube until reaching
the cloacal folds during the cross-talk with the adjacent endoder-
mal tissue. The splanchnic mesenchyme develops into the smooth
muscle resulting from epithelial-mesenchymal interactions
(Roberts et al. 1995; Yokouchi et al. 1995; de Santa Barbara and
Roberts 2002). Development of the circular muscle precedes that
of the longitudinal muscle (Daikoku et al. 1975; Miyazaki et al.
1982; Ward and Torihashi 1995; Fritsch et al. 2007; Torihashi et al.
2009). The longitudinal layer of the smooth muscle surrounding
the rectum penetrates through the external anal sphincter and even
through the internal sphincter to support it (Smith 1987). The
smooth muscle cells, derived from the longitudinal muscle layer,
spread into the external anal sphincter (Fritsch et al. 2007). The
caudal ends of the internal anal sphincter and the external one
turned inward and hooked each other (Fritsch et al. 2007). It has
been reported that the internal sphincter muscle formed at the ter-
minal portion of the rectum, even in the case of the high-type
anorectal agenesis (Kiesewetter and Nixon 1967; Pena and deVries
1982; Lambrecht and Lierse 1987). The muscle tissue surrounding
the rectourethral fistula was observed in the chemical-affected
mice of anorectal agenesis (Hashimoto et al. 2002). The splanch-
nic mesenchyme, developed into and proliferated caudally along
the hindgut, was observed in the present observation. Assuming
that the splanchnic mesenchyme developed from the cranial to the
caudal side and participated in the formation of the internal
sphincter muscle, a circular muscle layer should exist at the ter-
minal end of the rectum, or at the terminal end of the hindgut’s
endodermal tissue, even when the rectum was at an abnormal loca-
tion. The fistula in anorectal agenesis has been regarded as an
ectopic anus (Bill and Johnson 1958). However, the mesenchymal
cells around the dorsal part of the cloacal membrane seen in the
sagittal sections of this report, was observed to be over-dense.
These mesenchymal cells differentiated into the elevator ani
muscles including the external sphincter muscle (Fritsch et al.
2007). The mesenchyme derived from the somites around the
cloacal membrane should involve the formation of the external
anal sphincter muscle.
The tail bud appeared to aggressively give rise to the tailgut. It
seems to cause both the adequate dilation of the dorsal cloaca and
the elongation of the cloacal membrane; its dorsal portion in par-
ticular will be necessary for normal anorectal development. The
disorder of the tail bud, which generates the tailgut, seems to cause
inadequate dilation of the dorsal cloaca, which may well trigger the
defect of the dorsal cloacal membrane.
The splanchnic mesenchyme developed and descended toward
the pectinate line and formed the internal sphincter muscle at the
terminal bowel. Therefore, a circular muscle layer may exist at
the terminal end of the rectum, or at the terminal end of the hind-
gut’s endodermal tissue, even when the rectum was at an abnor-
mal location. The fistula in anorectal agenesis may be an ectopic
anus.
© 2012 The Author
Congenital Anomalies © 2012 Japanese Teratology Society
R. Hashimoto
ACKNOWLEDGMENT
I wish to express my deep gratitude to Dr Kohei Shiota, Executive
Vice President, Kyoto University, for reading the manuscript and
making a number of very helpful suggestions.
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Congenital Anomalies © 2012 Japanese Teratology Society