Gastrointestinal Tract - Abnormalities
|Embryology - 19 Feb 2019 Expand to Translate|
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- 1 Introduction
- 2 International Classification of Diseases
- 3 Some Recent Findings
- 4 Movies
- 5 Statistics
- 6 Some Recent Findings
- 7 Lumen Abnormalities
- 8 Oesophagus
- 9 Intestinal Malrotation
- 10 Situs Inversus Viscera
- 11 Meckel's Diverticulum
- 12 Intestinal Aganglionosis
- 13 Gastroschisis
- 14 Omphalocele
- 15 Short-Bowel Syndrome
- 16 Obstetric Cholestasis
- 17 Small Bowel Obstruction
- 18 Necrotizing Enterocolitis
- 19 Meconium Plug Syndrome
- 20 Intestinal Perforation
- 21 Appendix Duplication
- 22 Anorectal Malformations
- 23 References
- 24 External Links
- 25 Glossary Links
The "simple tube" of the gastrointestinal tract and its associated organs have many different tract and organ specific gastrointestinal 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)
|Q39 Congenital malformations of oesophagus
|Q40 Other congenital malformations 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)
|Q42 Congenital absence, atresia and stenosis of large intestine
Incl.: congenital obstruction, occlusion and stricture of large intestine
|Q43 Other congenital malformations of intestine
|Q44 Congenital malformations of gallbladder, bile ducts and liver
|Q45 Other congenital malformations of digestive system
Excl.: congenital: diaphragmatic hernia (Q79.0) hiatus hernia (Q40.1)
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
|ICD10 - Gastrointestinal | Genital | Renal | Integumentary|
|ICD-11 - Structural developmental anomalies of the digestive tract (LB10 - LB18)|
|Diseases of the digestive system
|Note - ICD-11 is currently only in beta form and will be officially released in 2018.|
Some Recent Findings
|More recent papers|
This table allows an automated computer search of the external PubMed database using the listed "Search term" text link.
<pubmed limit=5>Abnormal Development Gastrointestinal Tract</pubmed>
|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
|Small intestinal atresia/stenosis - (2.4 per 10,000 births) ICD-10 Q41.0-Q41.2
|Anorectal atresia/stenosis - ( 3.1 per 10,000 births) ICD-10 Q42.0–Q42.3
|Hirschsprung’s disease - (1.3 per 10,000 births) ICD-10 Q43.1
|Exomphalos - (Omphalocele) (2.1 per 10,000 births) ICD-10 Q79.2
|Gastroschisis - (2.6 per 10,000 births) ICD-10 Q79.3
|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).
|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.
CDC National estimates for selected GIT related major birth defects (2004–2006).
|USA Selected Statistics|
Some Recent Findings
|More recent papers|
This table allows an automated computer search of the external PubMed database using the listed "Search term" text link.
<pubmed limit=5>Abnormal Development Gastrointestinal Tract</pubmed>
There are several types of abnormalities (atresia, stenosis and duplication) that impact upon the continuity of the gastrointestinal tract lumen.
An interruption of the lumen where the naming is based upon anatomical location.
The 1962 Waterston classification is a useful tool for predicting post-operative morbidity associated with independent risk factors such as; birth weight, cardiac anomalies, and pre-operative pneumonia. There are alternative prognostic classification systems.
Atresia of oesophagus with tracheo-oesophageal fistula
Atresia of oesophagus with broncho-oesophageal fistula, OA/TOF)
"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.
Search PubMed: Oesophageal Atresia
Pyloric atresia (PA) - a very rare condition (incidence 1 in 100,000 newborns) and about 1% of all intestinal atresias.
Search PubMed: Pyloric Atresia
Search PubMed: Duodenal Atresia
Search PubMed: Biliary Atresia
Small Intestine Atresia
Search PubMed: Small Intestine Atresia
Search PubMed: Anorectal Atresia
A narrowing of the lumen (esophageal stenosis, duodenal stenosis, pyloric stenosis)
An incomplete recanalization resulting in parallel lumens, this is really a specialized form of stenosis.
- 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
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.
A series of bands crossing the duodenum which can cause duodenal obstruction.
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
Situs Inversus Viscera
Disturbance of the lateralisation of the liver may produce transposition of some or all of the foregut and its derivatives.
Also in situs inversus the anatomical relations of the duodenum, pancreas, bile ducts and portal veins may be reversed or disordered.
Heterotaxia is a term used to describe the rare congenital defect where the major visceral organs are distributed left-right abnormally within the chest and abdomen.
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).
|Chapter 8 on Meckel's diverticulum.
- Links: Yolk Sac - Meckel's Diverticulum | OMIM - Meckel's Diverticulum | Pubmed - Meckel's Diverticulum | Pubmed - omphalomesenteric duct | Pubmed - vitelline duct
(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 | GHR | MedlinePlus - Hirschsprung's disease | OMIM 142623 | Search PubMed
By definition, gastroschisis 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. Both environments and genetic factors contribute to this disorder. Some studies suggest yolk sac and related vitelline structures or a vascular disruption or are associated with the pathogenesis. A study has also shown that herpesvirus does not play a role in the etiology of gastroschisis.
|Gastroschisis patients are commonly small for gestational age (SGA, birth weight < 10th centile). Frequency line graphs of the birth weight distribution.
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
The abnormality omphalocele appears similar to gastroschisis, though 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 abnormality 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
- Links: Search PubMed - Omphalocele
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
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.
- Extrinsic Causes - adhesions, closed loop, strangulation, hernia and extrinsic masses
- Intrinsic Causes - intestinal malrotation, Crohn disease, adenocarcinoma, tuberculosis, radiation enteropathy, intramural hemorrhage, intussusception and intraluminal causes.
(More? see PMID 11353110)
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
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."
Is a similar meconium obstruction occurring within the small intestine ileum due to abnormal meconium properties possibly associated with abnormalities of small intestine function.
Usually identified in neonates a disorder due to to one or a combination of:
- necrotizing enterocolitis
- Hirschsprung’s disease
- meconium ileus
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
|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|
(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)
|Imperforated anus without fistula|
|Complex and unusual defects|
|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|
|Associated to presacral mass|
Table Levitt and Peña (2007)
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.
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.
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