Gastrointestinal Tract - Abnormalities

Embryology - 23 Apr 2024        Expand to Translate
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Introduction

Meckel's Diverticulum

The "simple tube" of the gastrointestinal tract and its associated organs have many different tract and organ specific abnormalities. Due to the complex nature (different germ layer contributions, organogenisis) of the growth, elongation and folding of the tract, there are also several mechanical disorders of folding (rotation). Musculoskeletal abnormalities of the anterior body wall can also result in gastrointestinal abnormalities.

Note that as this system begins function (digestively) postnatally, unless there is a determined genetic history within the family, several abnormalities only become evident postnatally, in particular, metabolic disorders often identified by the Guthrie test.

International Classification of Diseases

ICD10 Other congenital malformations of the digestive system (Q38-Q45)
XVII Congenital Malformations - Other congenital malformations of the digestive system (Q38-Q45)
Q38 Other congenital malformations of tongue, mouth and pharynx Excl.: macrostomia (Q18.4) microstomia (Q18.5) Q38.0 Congenital malformations of lips, not elsewhere classified Congenital: fistula of lip malformation of lip NOS Van der Woude's syndrome Excl.: cleft lip (Q36.-) cleft lip with cleft palate (Q37.-) macrocheilia (Q18.6) microcheilia (Q18.7) Q38.1 Ankyloglossia Tongue tie Q38.2 Macroglossia Q38.3 Other congenital malformations of tongue Aglossia Bifid tongue Congenital: adhesion fissure malformation NOS of tongue Hypoglossia Hypoplasia of tongue Microglossia Q38.4 Congenital malformations of salivary glands and ducts Absence Accessory Atresia (of) salivary gland or duct Congenital fistula of salivary gland Q38.5 Congenital malformations of palate, not elsewhere classified Absence of uvula Congenital malformation of palate NOS High arched palate Excl.: cleft palate (Q35.-) cleft palate with cleft lip (Q37.-) Q38.6 Other congenital malformations of mouth Congenital malformation of mouth NOS Q38.7 Pharyngeal pouch Diverticulum of pharynx Excl.: pharyngeal pouch syndrome (D82.1) Q38.8 Other congenital malformations of pharynx Congenital malformation of pharynx NOS
Q39 Congenital malformations of oesophagus Q39.0 Atresia of oesophagus without fistula Atresia of oesophagus NOS Q39.1 Atresia of oesophagus with tracheo-oesophageal fistula Atresia of oesophagus with broncho-oesophageal fistula Q39.2 Congenital tracheo-oesophageal fistula without atresia Congenital tracheo-oesophageal fistula NOS Q39.3 Congenital stenosis and stricture of oesophagus Q39.4 Oesophageal web Q39.5 Congenital dilatation of oesophagus Q39.6 Diverticulum of oesophagus Oesophageal pouch Q39.8 Other congenital malformations of oesophagus Absent Congenital displacement Duplication (of) oesophagus Q39.9 Congenital malformation of oesophagus, unspecified
Q40 Other congenital malformations of upper alimentary tract Q40.0 Congenital hypertrophic pyloric stenosis Congenital or infantile: constriction hypertrophy spasm stenosis stricture of pylorus Q40.1 Congenital hiatus hernia Displacement of cardia through oesophageal hiatus Excl.: congenital diaphragmatic hernia (Q79.0) Q40.2 Other specified congenital malformations of stomach Congenital: displacement of stomach diverticulum of stomach hourglass stomach Duplication of stomach Megalogastria Microgastria Q40.3 Congenital malformation of stomach, unspecified Q40.8 Other specified congenital malformations of upper alimentary tract Q40.9 Congenital malformation of upper alimentary tract, unspecified Congenital: anomaly deformity NOS of upper alimentary tract
Q41 Congenital absence, atresia and stenosis of small intestine Incl.: congenital obstruction, occlusion and stricture of small intestine or intestine NOS Excl.: meconium ileus (E84.1) Q41.0 Congenital absence, atresia and stenosis of duodenum Q41.1 Congenital absence, atresia and stenosis of jejunum Apple peel syndrome Imperforate jejunum Q41.2 Congenital absence, atresia and stenosis of ileum Q41.8 Congenital absence, atresia and stenosis of other specified parts of small intestine Q41.9 Congenital absence, atresia and stenosis of small intestine, part unspecified Congenital absence, atresia and stenosis of intestine NOS
Q42 Congenital absence, atresia and stenosis of large intestine Incl.: congenital obstruction, occlusion and stricture of large intestine Q42.0 Congenital absence, atresia and stenosis of rectum with fistula Q42.1 Congenital absence, atresia and stenosis of rectum without fistula Imperforate rectum Q42.2 Congenital absence, atresia and stenosis of anus with fistula Q42.3 Congenital absence, atresia and stenosis of anus without fistula Imperforate anus Q42.8 Congenital absence, atresia and stenosis of other parts of large intestine Q42.9 Congenital absence, atresia and stenosis of large intestine, part unspecified
Q43 Other congenital malformations of intestine Q43.0 Meckel's diverticulum Persistent: omphalomesenteric duct vitelline duct Q43.1 Hirschsprung's disease Aganglionosis Congenital (aganglionic) megacolon Q43.2 Other congenital functional disorders of colon Congenital dilatation of colon Q43.3 Congenital malformations of intestinal fixation Congenital adhesions [bands]: omental, anomalous peritoneal Jackson's membrane Malrotation of colon Rotation: failure of incomplete insufficient of caecum and colon Universal mesentery Q43.4 Duplication of intestine Q43.5 Ectopic anus Q43.6 Congenital fistula of rectum and anus Excl.: congenital fistula: rectovaginal (Q52.2) urethrorectal (Q64.7) pilonidal fistula or sinus (L05.-) with absence, atresia and stenosis (Q42.0,Q42.2) Q43.7 Persistent cloaca Cloaca NOS Q43.8 Other specified congenital malformations of intestine Congenital: blind loop syndrome diverticulitis, colon diverticulum, intestine Dolichocolon Megaloappendix Megaloduodenum Microcolon Transposition of: appendix colon intestine Q43.9 Congenital malformation of intestine, unspecified
Q44 Congenital malformations of gallbladder, bile ducts and liver Q44.0 Agenesis, aplasia and hypoplasia of gallbladder Congenital absence of gallbladder Q44.1 Other congenital malformations of gallbladder Congenital malformation of gallbladder NOS Intrahepatic gallbladder Q44.2 Atresia of bile ducts Q44.3 Congenital stenosis and stricture of bile ducts Q44.4 Choledochal cyst Q44.5 Other congenital malformations of bile ducts Accessory hepatic duct Congenital malformation of bile duct NOS Duplication: biliary duct cystic duct Q44.6 Cystic disease of liver Fibrocystic disease of liver Q44.7 Other congenital malformations of liver Accessory liver Alagille's syndrome Congenital: absence of liver hepatomegaly malformation of liver NOS
Q45 Other congenital malformations of digestive system Excl.: congenital: diaphragmatic hernia (Q79.0) hiatus hernia (Q40.1) Q45.0 Agenesis, aplasia and hypoplasia of pancreas Congenital absence of pancreas Q45.1 Annular pancreas Q45.2 Congenital pancreatic cyst Q45.3 Other congenital malformations of pancreas and pancreatic duct Accessory pancreas Congenital malformation of pancreas or pancreatic duct NOS Excl.: diabetes mellitus: congenital (E10.-) neonatal (P70.2) fibrocystic disease of pancreas (E84.-) Q45.8 Other specified congenital malformations of digestive system Absence (complete)(partial) of alimentary tract NOS Duplication Malposition, congenital of digestive organs NOS Q45.9 Congenital malformation of digestive system, unspecified Congenital: anomaly deformity NOS of digestive system
World Health Organisation. International Statistical Classification of Diseases and Related Health Problems. (1992) 10th Revision (ICD-10). Geneva: WHO ICD-10 - 2016 Online (English)
Links: Gastrointestinal Abnormalities GIT Links: Introduction | Medicine Lecture | Science Lecture | endoderm | mouth | oesophagus | stomach | liver | gallbladder | Pancreas | intestine | mesentery | tongue | taste | enteric nervous system | Stage 13 | Stage 22 | gastrointestinal abnormalities | Movies | Postnatal | milk | tooth | salivary gland | BGD Lecture | BGD Practical | GIT Terms | Category:Gastrointestinal Tract GIT Histology Links: Upper GIT | Salivary Gland | Smooth Muscle Histology | Liver | Gallbladder | Pancreas | Colon | Histology Stains | Histology | GIT Development Historic Embryology - Gastrointestinal Tract   1878 Alimentary Canal | 1882 The Organs of the Inner Germ-Layer The Alimentary Tube with its Appended Organs | 1884 Great omentum and transverse mesocolon | 1902 Meckel's diverticulum | 1902 The Organs of Digestion | 1903 Submaxillary Gland | 1906 Liver | 1907 Development of the Digestive System | 1907 Atlas | 1907 23 Somite Embryo | 1908 Liver | 1908 Liver and Vascular | 1910 Mucous membrane Oesophagus to Small Intestine | 1910 Large intestine and Vermiform process | 1911-13 Intestine and Peritoneum - Part 1 | Part 2 | Part 3 | Part 5 | Part 6 | 1912 Digestive Tract | 1912 Stomach | 1914 Digestive Tract | 1914 Intestines | 1914 Rectum | 1915 Pharynx | 1915 Intestinal Rotation | 1917 Entodermal Canal | 1918 Anatomy | 1921 Alimentary Tube | 1932 Gall Bladder | 1939 Alimentary Canal Looping | 1940 Duodenum anomalies | 2008 Liver | 2016 GIT Notes | Historic Disclaimer Human Embryo: 1908 13-14 Somite Embryo | 1921 Liver Suspensory Ligament | 1926 22 Somite Embryo | 1907 23 Somite Embryo | 1937 25 Somite Embryo | 1914 27 Somite Embryo | 1914 Week 7 Embryo Animal Development: 1913 Chicken | 1951 Frog
ICD10 - Gastrointestinal | Genital | Renal | Integumentary

Some Recent Findings

Patient characteristics are important determinants of neurodevelopmental outcome during infancy in giant omphalocele "Between 06/2005 and 07/2012, 31 consecutive GO survivors underwent ND assessment using the BSID-III at a median of 24months (range 6-35). ND delay was defined by a score of ≤84 in any composite score. Severe impairments were defined as a score of ≤69 in at least one domain. ...Neurological impairments were present in more than half of GO survivors. Disease severity was associated with ND dysfunction. Autism and hypotonicity were often co-morbidities with ND delays and poor motor function." Neural System - Abnormalities

More recent papers

This table allows an automated computer search of the external PubMed database using the listed "Search term" text link. This search now requires a manual link as the original PubMed extension has been disabled. The displayed list of references do not reflect any editorial selection of material based on content or relevance. References also appear on this list based upon the date of the actual page viewing. References listed on the rest of the content page and the associated discussion page (listed under the publication year sub-headings) do include some editorial selection based upon both relevance and availability. More? References | Discussion Page | Journal Searches | 2019 References | 2020 References Search term: Abnormal Development Gastrointestinal Tract <pubmed limit=5>Abnormal Development Gastrointestinal Tract</pubmed>

Movies

‎‎Cleft Lip 15 Week Page | Play

‎‎Cleft Lip 18 Week Page | Play

‎‎Gastroschisis Page | Play

‎‎Omphalocele Page | Play

Statistics

Australian

The pie diagram shows the relative contribution of major gastrointestinal tract abnormalities as a percentage of the total number of congenital abnormalities in Australia beween 1981 - 92. Note that the digestive system represents approximately 6% of all major congenital abnormalities. One of the most common abnormalities occurring in (2% - 3% population) is Meckel's Diverticulum. The mouth (cleft lip, cleft palate) is part of the digestive tract, but more accurately reflects an abnormality of face formation.

Data shown as a percentage of all major abnormalities based upon published statistics using the same groupings as Congenital Malformations Australia 1981-1992 P. Lancaster and E. Pedisich ISSN 1321-8352.

Australian GIT Abnormalities (2002-2003)
Oesophageal atresia/stenosis - (2.0 per 10,000 births) ICD-10 Q39.0–Q39.3 A congenital anomaly characterised by the absence of continuity or narrowing of the oesophagus, with or without tracheal fistula, including tracheoesophageal fistula with or without mention of atresia or stenosis of oesophagus. More males (58.6%) than females were affected with this anomaly. Women aged 40 years or older had the highest rate of affected pregnancies.
Small intestinal atresia/stenosis - (2.4 per 10,000 births) ICD-10 Q41.0-Q41.2 Complete or partial occlusion of the lumen of a segment of the small intestine. It can involve a single area or multiples areas of the duodenum, jejunum or ileum. Half of the babies (49.2%) with small intestinal atresia or stenosis were born pre-term.
Anorectal atresia/stenosis - ( 3.1 per 10,000 births) ICD-10 Q42.0–Q42.3 A congenital anomaly characterised by absence of continuity of the anorectal canal or of communication between rectum and anus, or narrowing of anal canal, with or without fistula to neighbouring organs. It excludes mild stenosis which does not need correction, and ectopic anus.
Hirschsprung’s disease - (1.3 per 10,000 births) ICD-10 Q43.1 A condition characterised by partial or complete bowel obstruction resulting from absence of peristalsis in a segment of bowel due to an aganglionic section of the bowel. More than two-thirds (66.7%) of the babies born with this anomaly were males. Women aged 40 years or older had the highest rate of affected pregnancies.
Exomphalos - (Omphalocele) (2.1 per 10,000 births) ICD-10 Q79.2 A congenital anomaly characterised by herniation of abdominal contents through the umbilical insertion and covered by a membrane which may or may not be intact. The anomaly excludes gastroschisis, hypoplasia of abdominal muscles and skin covered umbilical hernia. A significantly higher rate of births with exomphalos was seen in women who had multiple births.
Gastroschisis - (2.6 per 10,000 births) ICD-10 Q79.3 A congenital anomaly characterised by visceral herniation through a right side abdominal wall defect with an intact umbilical cord and not covered by a membrane. This anomaly excludes hypoplasia of abdominal muscles, skin covered umbilical hernia and exomphalos. Similar proportions of males and females with this anomaly. Half of the affected pregnant women delivered preterm.
Links: Gastrointestinal Tract - Abnormalities | ICD-10 GIT | Australian Statistics
Reference: Abeywardana S & Sullivan EA 2008. Congenital Anomalies in Australia 2002-2003. Birth anomalies series no. 3 Cat. no. PER 41. Sydney: AIHW National Perinatal Statistics Unit.

Australian Palate Abnormalities (2002-2003)
Cleft lip with or without cleft palate (9.2 per 10,000 births) ICD-10 Q36.0, Q36.1, Q36.9, Q37.0–Q37.5, Q37.8, Q37.9
A congenital anomaly characterised by a partial or complete clefting of the upper lip, with or without clefting of the alveolar ridge or the hard palate. Excludes a midline cleft of the upper or lower lip and an oblique facial fissure (going towards the eye). 17% of the affected pregnancies were terminated in early pregnancy or resulted in fetal deaths. Most of the fetal deaths or terminations of pregnancy (95%) had multiple abnormalities. more commonly seen in males than in females. babies born before 25 weeks of gestation, 150 per 10,000 births had this anomaly. Most babies (80.0%) were born at term with a birthweight of 2,500 grams or more. Maternal age group was not associated with the anomaly. Rates significantly higher among Indigenous women than non Indigenous women.
Cleft palate without cleft lip (8.1 per 10,000 births) ICD-10 Q35.0–Q35.9
A congenital anomaly characterised by a closure defect of the hard and/or soft palate behind the foramen incisivum without a cleft lip. This anomaly includes sub-mucous cleft palate, but excludes cleft palate with a cleft lip, a functional short palate and high narrow palate. overall rate has increased to 9.1 when the rate was estimated using data from the four states that include TOP data. The reported number of fetal deaths or early terminations of pregnancy with this anomaly was small and these deaths or terminations could be due to other associated anomalies. proportion of females with this anomaly was higher (56.9%) than males. 52.7 per 10,000 babies born before 25 weeks of gestation. 83.0% were born at term and most of the babies (82.7%) had a birthweight of 2,500 grams or more. Women aged 40 years or older and women born in South Central America or the Caribbean region had the highest rates of affected births. Multiple births had a significantly higher rate of affected babies than singleton births. Rates did not differ significantly by Indigenous status or areas of residence.
Links: Palate Development | Head Development | Gastrointestinal Tract - Abnormalities | ICD-10 GIT | Australian Statistics
Reference: Abeywardana S & Sullivan EA 2008. Congenital Anomalies in Australia 2002-2003. Birth anomalies series no. 3 Cat. no. PER 41. Sydney: AIHW National Perinatal Statistics Unit.

USA Selected

CDC National estimates for selected GIT related major birth defects (2004–2006).

Birth Defects	Cases per Births (1 in ...)	Estimated Annual Number of Cases
Cleft palate without cleft lip	1,574	2,651
Cleft lip with and without cleft palate	940	4,437
Esophageal atresia/tracheoesophageal fistula	4,608	905
Rectal and large intestinal atresia/stenosis	2,138	1,952
Gastroschisis	2,229	1,871
Omphalocele	5,386	775
Diaphragmatic hernia	3,836	1,088
Trisomy 21 (Down syndrome)	691	6,037

Some Recent Findings

A prospective observational study of associated anomalies in Hirschsprung's disease "Our study confirmed the underestimation of certain associated anomalies in Hirschsprung patients, such as hearing impairment and congenital anomalies of the kidney and urinary tract. Subsequently, based on our results we strongly suggest performing renal US and audiometry in all patients. Conversely, ophthalmologic assessment and cerebral and heart US can be performed according to guidelines applied to the general population or in case of patients with suspected clinical features or chromosomal abnormalities." Disturbed balance between SOX2 and CDX2 in human vitelline duct anomalies and intestinal duplications "Congenital gastric-type heteroplasia is common in intestinal duplications and anomalies, which originate from incomplete resorption of the omphalomesenteric duct during development. Two transcription factors determine the proximodistal specification of the gastrointestinal tract, SOX2, expressed exclusively in the proximal part of the primitive gut, and CDX2, expressed solely in the distal part. ...Interestingly, patches of CDX2-positive cells were present within the gastric mucosa in a subset of Meckel's diverticula and intestinal duplications, suggesting that it is not the absence of CDX2, but rather the ectopic expression of SOX2 that leads to gastric tissue in the prospective intestinal tissue. This is in concordance with our previous mouse studies." Hearing Abnormalities | Renal Abnormalities Hedgehog/Notch-induced premature gliogenesis represents a new disease mechanism for Hirschsprung disease in mice and humans "Hirschsprung (HSCR) disease is a complex genetic disorder attributed to a failure of the enteric neural crest cells (ENCCs) to form ganglia in the hindgut. Hedgehog and Notch are implicated in mediating proliferation and differentiation of ENCCs. Nevertheless, how these signaling molecules may interact to mediate gut colonization by ENCCs and contribute to a primary etiology for HSCR are not known. Here, we report our pathway-based epistasis analysis of data generated by a genome-wide association study on HSCR disease, which indicates that specific genotype constellations of Patched (PTCH1) (which encodes a receptor for Hedgehog) and delta-like 3 (DLL3) (which encodes a receptor for Notch) SNPs confer higher risk to HSCR. Importantly, deletion of Ptch1 in mouse ENCCs induced robust Dll1 expression and activation of the Notch pathway, leading to premature gliogenesis and reduction of ENCC progenitors in mutant bowels. Dll1 integrated Hedgehog and Notch pathways to coordinate neuronal and glial cell differentiation during enteric nervous system development. In addition, Hedgehog-mediated gliogenesis was found to be highly conserved, such that Hedgehog was consistently able to promote gliogenesis of human neural crest-related precursors. Collectively, we defined PTCH1 and DLL3 as HSCR susceptibility genes and suggest that Hedgehog/Notch-induced premature gliogenesis may represent a new disease mechanism for HSCR."

More recent papers

This table allows an automated computer search of the external PubMed database using the listed "Search term" text link. This search now requires a manual link as the original PubMed extension has been disabled. The displayed list of references do not reflect any editorial selection of material based on content or relevance. References also appear on this list based upon the date of the actual page viewing. References listed on the rest of the content page and the associated discussion page (listed under the publication year sub-headings) do include some editorial selection based upon both relevance and availability. More? References | Discussion Page | Journal Searches | 2019 References | 2020 References Search term: Abnormal Development Gastrointestinal Tract <pubmed limit=5>Abnormal Development Gastrointestinal Tract</pubmed>

GIT Lumen Abnormalities

Gastrointestinal tract duplication sites based upon 78 clinical studies.

There are several types of abnormalities (atresia, stenosis and duplication) that impact upon the continuity of the gastrointestinal tract lumen.

Atresia

An interruption of the lumen (esophageal atresia, duodenal atresia, extrahepatic biliary atresia, anorectal atresia). See oesophageal Atresia review

• Pyloric atresia (PA) - a very rare condition (incidence 1 in 100,000 newborns) and about 1% of all intestinal atresias.

Oesophageal Atresia
Oesophageal atresia x-ray	Classification of Oesophageal atresia

Stenosis

A narrowing of the lumen (esophageal stenosis, duodenal stenosis, pyloric stenosis)

• esophageal stenosis

Duplication

An incomplete recanalization resulting in parallel lumens, this is really a specialized form of stenosis.

Links: Image - small intestine duplication

Oesophagus

The current International Classification of Diseases (ICD-10) code XVII Congenital Malformations Q39 Congenital malformations of oesophagus

• Q39.0 Atresia of oesophagus without fistula Atresia of oesophagus NOS
• Q39.1 Atresia of oesophagus with tracheo-oesophageal fistula Atresia of oesophagus with broncho-oesophageal fistula
• Q39.2 Congenital tracheo-oesophageal fistula without atresia Congenital tracheo-oesophageal fistula NOS
• Q39.3 Congenital stenosis and stricture of oesophagus
• Q39.4 Oesophageal web
• Q39.5 Congenital dilatation of oesophagus
• Q39.6 Diverticulum of oesophagus Oesophageal pouch
• Q39.8 Other congenital malformations of oesophagus Absent Congenital displacement Duplication (of) oesophagus
• Q39.9 Congenital malformation of oesophagus, unspecified

Note ICD-10 is currently being updated to ICD-11 and will have new replacement coding.

Oesophageal Atresia with Tracheo-Oesophageal Fistula

(Q39.1 Atresia of oesophagus with tracheo-oesophageal fistula Atresia of oesophagus with broncho-oesophageal fistula, OA/TOF)

ICD-11 (beta) LB12.2 Atresia of oesophagus "Oesophageal atresia encompasses a group of congenital anomalies with an interruption in the continuity of the oesophagus, with or without persistent communication with the trachea. In 86% of cases there is a distal tracheooesophageal fistula, in 7% of cases there is no fistulous connection, while in 4% of cases there is a tracheooesophageal fistula without atresia. The remaining cases are made up of patients with OA with proximal, or both proximal and distal, tracheooesophageal fistula."

This abnormality has been shown to be associated with Tbx1 mutations that also include DiGeorge syndrome.

Links: TBX | Student Project - Di George syndrome | OMIM - TBX1 | OMIM - DiGeorge

Intestinal Malrotation

A recent study has suggested that malrotation may result from the stunted embryonic development of intestinal secondary loops.

Presents clinically in symptomatic malrotation as: Neonates - bilious vomiting and bloody stools. Newborn - bilious vomiting and failure to thrive. Infants - recurrent abdominal pain, intestinal obstruction, malabsorption/diarrhea, peritonitis/septic shock, solid food intolerance, common bile duct obstruction, abdominal distention, and failure to thrive.

Ladd's Bands A series of bands crossing the duodenum which can cause duodenal obstruction.

Volvulus

Twisting of the midgut (bowel) which causes obstruction to the flow of material. Can include a variable loss of local blood supply which leads to tissue death.

Diagnosis is generally by upper gastrointestinal radiologic examination or less frequently by barium enema or CT scan.

Corrective surgery is generally by the Ladd's procedure, even with surgical treatment there is still significant associated complications and long-term morbidity.

What abnormal embryological processes could interfere with normal rotation and fixation of the gut?

Search PubMed: intestinal+malrotation

OMIM: Volvulus of Midgut

Links: Medlineplus - childhood volvulus | AAFP - Bilious Vomiting in the Newborn | Pediatric education - Neonatal Bilious Emesis |

Situs Inversus Viscera

Disturbance of the lateralisation of the liver may produce transposition of some or all of the foregut and its derivatives.

• Stomach
• Pancreas
• Duodenum - jéjunum (Intestine)
• Spleen
• Bile

Also in situs inversus the anatomical relations of the duodenum, pancreas, bile ducts and portal veins may be reversed or disordered.

Search PubMed: Situs Inversus Viscera

Meckel's Diverticulum

This GIT abnormality is a very common (incidence of 1–2% in the general population) and results from improper closure and absorption of the omphalomesenteric duct (vitelline duct) in development. This transient developmental duct connects the yolk to the primitive gastrointestinal tract.

In addition to Meckel's diverticulum there are a range of other vitelline duct abnormalities, which depend on the degree from a completely patent duct at the umbilicus to lesser remnants (cysts, fibrous cords connecting umbilicus to distal ileum, granulation tissue at umbilicus, or umbilical hernias).

Links: OMIM - Meckel's Diverticulum | Pubmed - Meckel's Diverticulum | Pubmed - omphalomesenteric duct | Pubmed - vitelline duct

Intestinal Aganglionosis

(intestinal aganglionosis, Hirschsprung's disease, aganglionic colon, megacolon, congenital aganglionic megacolon, congenital megacolon) A condition caused by the lack of enteric nervous system (neural ganglia) in the intestinal tract responsible for gastric motility (peristalsis). In general, its severity is dependent upon the amount of the GIT that lacks intrinsic ganglia, due to developmental lack of neural crest migration into those segments. (More? Neural Crest System - Abnormalities)

Historically, Hirschsprung's disease takes its name from Dr Harald Hirschsprung (1830-1916) a Danish pediatrician (of German extraction). In 1886, he presented at the German Society of Pediatrics conference in Berlin a case of 2 infants who died of complications of bowel obstruction (H. Hirschsprung, Stuhltragheit Neugeborener in Folge von Dilatation und Hypertrophie des Colons, Jhrb f Kinderh 27 (1888), pp. 1-7). Later autopsies identified a dilatation and hypertrophy of large intestine, and the rectum appeared normally narrow. Hirschsprung suggested that the condition was an inborn disease and named it congenital megacolon.

The first indication in newborns is an absence of the first bowel movement, other symptoms include throwing up and intestinal infections. Clinically this is detected by one or more tests (barium enema and x ray, manometry or biopsy) and can currently only be treated by surgery. A temoporary ostomy (Colostomy or Ileostomy) with a stoma is carried out prior to a more permanent pull-through surgery.

Ostomy - Aganglionic portion removed	Stoma - intestine attached to the abdomen wall
Short section of the colon without smooth muscle neural ganglia	Aganglionic segment removed	Reattachment

Images: NIH - NIDDK - Hirschsprungs

Links: Enteric Nervous System | Neural Crest System - Abnormalities | NIH - NIDDK - Hirschsprungs | MedlinePlus - Hirschsprung's disease | OMIM 142623 | Search PubMed

Gastroschisis

By definition, it is a body wall musculoskeletal defect, not a gastrointestinal tract defect, which in turn impacts upon GIT development.

Gastroschisis (paraomphalocele, laparoschisis, abdominoschisis, abdominal hernia) is an abdominal wall defect associated with evisceration of the intestine (2.5 cases/10,000 births), occuring more frequently in young mothers (less than 20 years old). There have been reports that this abnormality is increasing in incidence. The abnormality is usually situated to the right of the umbilicus and abdominal contents, mainly gastrointestinal, are found outside the anterior body wall. International Classification of Diseases, 9th Revision diagnosis (756.79) and procedure (54.71) code for gastroschisis (2003 to 2008).
Can occur in isolation and also in association with other gastrointestinal anomalies (intestinal atresia, perforation, necrosis or volvulus). Defects in other organ systems have been reported in up to 35% of children. There are several theories as to the cause of this abdominal wall defect, including recently failure of the yolk sac and related vitelline structures to be incorporated into the umbilical stalk. The condition can often be detected by ultrasound scan. Reported as a high mortality defect, only 60% of children survive until the end of the first year of age.	‎‎Gastroschisis Page | Play
Gastroschisis patients are commonly small for gestational age (SGA, birth weight < 10th centile). Frequency line graphs of the birth weight distribution, Kolmogorov-Smirnov test confirmed that this difference was significant (p < 0.001). black line - gastroschisis cases gray line - controls

Gastroschisis Classification

There has been a recent attempt to classify gastroschisis in order to measure clinical outcomes.

• Simple gastroschisis - intact continuous bowel that is not compromised or breached at delivery or presentation
• Complex gastroschisis - presence of one or more of intestinal atresia, perforation or intestinal necrosis at delivery or presentation, or missed atresia

Links: Gastroschisis

Omphalocele

Omphalocele ruptured during birth exposing liver and small intestine.

The omphalocele, pubic diastasis, loss of pubic bones and polydactyly in Gli3Xt; Alx4Lst; Shh combinatorial mutants.

An abnormality appearing similar to gastroschisis, involves "covered by membranes" and a lack of normal return of the bowel to the abdominal cavity and has a different position relative to the umbilical cord. The origin differs, as this is a failure of midgut loops to return to the body cavity after initial herniation into the umbilical cord during week 6 - 10.

• omphalocele - herniation of the bowel, liver and other organs into the intact umbilical cord, the tissues being covered by membranes unless the latter are ruptured
• gastroschisis - intact umbilical cord and evisceration of the bowel through a defect in the abdominal wall, generally to the right of the cord, with no membrane covering

Short-Bowel Syndrome

Not generally a developmental abnormality, but related to therapeutic intervention in GIT abnormalities or disease.

Short bowel syndrome is a group of problems affecting people who have had half or more of their small intestine removed. The most common reason for removing part of the small intestine is to treat Crohn's disease. Short bowel syndrome is treated through changes in diet, intravenous feeding, vitamin and mineral supplements, and medicine to relieve symptoms. (NDDIC)

Links: Better Health Short Bowel syndrome | National Digestive Diseases Information Clearinghouse Short Bowel syndrome

Obstetric Cholestasis

A recent paper in the British Medical Journal discusses this pregnancy associated disease.

"Obstetric cholestasis (or intrahepatic cholestasis of pregnancy) remains widely disregarded as an important clinical problem, with many obstetricians still considering its main symptom, pruritus, a natural association of pregnancy. Obstetric cholestasis is associated with cholesterol gallstones. It may be extremely stressful for the mother but also carries risks for the baby." Piotr Milkiewicz, Elwyn Elias, Catherine Williamson, and Judith Weaver BMJ 2002; 324: 123-124

Small Bowel Obstruction

The are two major forms of small bowel obstruction are from either external (extrinsic) or internal (intrinsic) causes. Listed below are a few examples of both causes.

1. Extrinsic Causes - adhesions, closed loop, strangulation, hernia and extrinsic masses
2. Intrinsic Causes - intestinal malrotation, Crohn disease, adenocarcinoma, tuberculosis, radiation enteropathy, intramural hemorrhage, intussusception and intraluminal causes.

(More? see PMID 11353110)

Necrotizing Enterocolitis

Necrotizing enterocolitis (NE) is the death of intestinal tissue that occurs postnatally in mainly in premature and low birth weight infants (1 in 2,000 - 4,000 births). The underdeveloped gastointestinal tract appears to be susceptible to bacteria, normally found within the tract,to spread widely to other regions where they damage the tract wall and may enter the bloodstream.

Those with a higher risk for this condition include:

• Premature infants
• Infants who are fed concentrated formulas
• Infants in a nursery where an outbreak has occurred
• Infants who have received blood exchange transfusions

Links: Medline Plus - Necrotizing Enterocolitis | Kids Health - Necrotizing Enterocolitis |

Meconium Plug Syndrome

(functional immaturity of the colon) Term used to describe a transient disorder of the newborn colon, which is characterized by delayed passage of meconium (more than 24 to 48 h), intestinal dilatation and yellow/green vomiting. More common in premature infants and can be determined by radiological dye study.

A recent study by looked at thecorrelation of meconium plug as identified radiologically covering 1994 to 2007, of 77 patients (mean gestational age 37.4 weeks, birth weight, 2977 g) Hirschsprung's disease was found in 10 patients (13%). "Although all patients with plugs and persistent abnormal stooling patterns should prompt a rectal biopsy and genetic probe, the incidence of Hirschsprung's and cystic fibrosis may not be as high as previously reported."

Links: U Mich - Meconium Plug Syndrome

Appendix Duplication

Appendix duplication is an extremely rare congenital anomaly (0.004% to 0.009% of appendectomy specimens) first classified according to their anatomic location by Cave in 1936 and a later modified by Wallbridge in 1963, subsequently two more types of appendix abnormalities have been identified.

Modified Cave-Wallbridge Classification (table from)

Classification of types of appendix duplication	Features
A	Single cecum with various degrees of incomplete duplication
B1 (bird type)	Two appendixes symmetrically placed on either side of the ileocecal valve
B2 (tenia coli type)	ne appendix arises from the cecum at the usual site, and the second appendix branches from the cecum along the lines of the tenia at various distances from the first
B3	One appendix arises from the usual site, and the second appendix arises from the hepatic flexura
B4	One appendix arises from the usual site, and the second appendix arises from the splenic flexura
C	Double cecum, each with an appendix
Horseshoe appendix	One appendix has two openings into a common cecum
Triple appendix	One appendix arises from the cecum at the usual site, and two additional appendixes arise from the colon

Anorectal Malformations

Persistent cloaca perineum

(ARMs) A group of many different abnormalities that can involve the distal anus and rectum as well as the urinary and genital tracts, for review see. Occurring with an incidence of approximately 1 in 5000 live births.

Classification of non-syndromic anorectal malformations (ARM)
Males	Recto-perineal fistula
	Recto-urethral-bulbar fistula
	Recto-urethral-prostatic fistula
	Recto-bladderneck fistula
	Imperforated anus without fistula
	Complex and unusual defects
Females	Recto-perineal fistula
	Recto-vestibular fistula
	Cloaca with short common channel (< 3 cm)
	Cloaca with long common channel (> 3 cm)
	Imperforated anus without fistula
Complex and unusual defects	Cloacal extrophy, covered cloacal extra
	Posterior cloaca
	Associated to presacral mass
	Rectal atresia
Table Levitt and Peña (2007)

Anal Atresia

Anal atresia or imperforate anus is an abnormality of incomplete anorectal region development occurring in about 1 in 5,000 infants. Resulting in accumulation of stool within the colon.

• rectum may end and not connect with the anus
• rectum may connect anatomically to the wrong region (urethra, bladder, or vagina).
• anus may be very narrowed or missing altogether.

Congenital Cloaca

Anal muscles and vagina wall do not form leading to a variable opening composing all or some of the rectum, vagina and bladder. Surgically requires a colostomy and other procedures to transfers a muscle from another part of the body to create a functioning sphincter at the anus.

References

Reviews

<pubmed>20549505</pubmed>| PMC2908440 <pubmed>15378215</pubmed> <pubmed>15026601</pubmed> <pubmed>12738470</pubmed> <pubmed>11826631</pubmed> <pubmed>11353110</pubmed>

Articles

<pubmed>19419414</pubmed> <pubmed>17230493</pubmed> <pubmed>16465538</pubmed> <pubmed>16390394</pubmed> <pubmed>16205928</pubmed> <pubmed>16563666</pubmed> <pubmed>15793730</pubmed> <pubmed>15488122</pubmed> <pubmed>12557047</pubmed>

Search PubMed

Search Pubmed: gastrointestinal tract abnormalities | intestinal malrotation | Situs Inversus Viscera | Gastroschisis | Intestinal Aganglionosis

External Links

External Links Notice - The dynamic nature of the internet may mean that some of these listed links may no longer function. If the link no longer works search the web with the link text or name. Links to any external commercial sites are provided for information purposes only and should never be considered an endorsement. UNSW Embryology is provided as an educational resource with no clinical information or commercial affiliation.

• NIH National Institute of Diabetes and Digestive and Kidney Diseases Hirschsprung Disease | Anatomic Problems of the Colon
• BMC Gastroenterology

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Cite this page: Hill, M.A. (2024, April 23) Embryology Gastrointestinal Tract - Abnormalities. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Gastrointestinal_Tract_-_Abnormalities

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© Dr Mark Hill 2024, UNSW Embryology ISBN: 978 0 7334 2609 4 - UNSW CRICOS Provider Code No. 00098G