Gastrointestinal Tract - Abnormalities

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 ICD-11 Structural developmental anomalies of the digestive tract

LB10 Structural developmental anomalies of salivary glands or ducts | LB11 Congenital diverticulum of pharynx | LB12 Structural developmental anomalies of oesophagus | LB13 Structural developmental anomalies of stomach | LB14 Structural developmental anomalies of duodenum | LB15 Structural developmental anomalies of small intestine | LB16 Structural developmental anomalies of large intestine | LB17 Structural developmental anomalies of anal canal | LB18 Congenital anomalies of intestinal fixation | Structural developmental anomalies of the liver, biliary tract, pancreas or spleen | Inborn Errors of Metabolism

gastrointestinal abnormalities

Contents

Introduction

Meckel's Diverticulum

The "simple tube" of the gastrointestinal tract and its associated organs have many different tract and organ specific gastrointestinal abnormalities. The gastrointestinal system begins function (digestively) postnatally, unless there is a determined genetic history within the family, several abnormalities only become evident postnatally (neonatal diagnosis), in particular, metabolic disorders often identified by the Guthrie test.

Lumen abnormalities, atresia (mainly), stenosis and duplication (rare) are a feature of this system. Atresia is an interruption of the tube lumen, the abnormality naming is based upon the anatomical location: commonly esophageal atresia, followed by atresia in the jejunoileal region.


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, volvulus). Musculoskeletal abnormalities of the anterior body wall (gastroschisis, omphalocele) and diaphragm (congenital diaphragmatic hernia) can also result in gastrointestinal abnormalities. Most of the tract is also dependent upon coordinated muscular contraction (peristalsis) and neural crest abnormalities can functionally impact upon this activity.

One of the most common abnormalities Meckel's diverticulum is in fact a remnant of the early embryonic mid-gut communication with the yolk sac.

Organ abnormalities are also included on this page and on the specific organ pages. Note this introductory page is very long.

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 | 1902 The Organs of Digestion | 1903 Submaxillary Gland | 1906 Liver | 1907 Development of the Digestive System | 1907 Atlas | 1907 23 Somite Embryo | 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 | 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

Some Recent Findings

  • Mice doubly deficient in Six4 and Six5 show ventral body wall defects reproducing human omphalocele[1] "Omphalocele is a human congenital anomaly in ventral body wall closure and may be caused by impaired formation of the primary abdominal wall (PAW) and/or defects in abdominal muscle development. Here, we report that mice doubly deficient in homeobox genes Six4 and Six5 showed the same ventral body wall closure defects as those seen in human omphalocele. SIX4 and SIX5 were localized in surface ectodermal cells and somatic mesoderm-derived mesenchymal and coelomic epithelial cells (CECs) in the PAW." SIX
  • Evaluation of pre- and postnatally diagnosed gastrointestinal tract obstructions[2] "Signs of congenital obstruction of the gastrointestinal tract (GIT) organs may present on prenatal ultrasonography. Prenatal detection is influenced by several factors, including obstruction site, lesion degree (partial or complete), the occurrence of associated malformations, and gestational week at screening. Here, we aimed to evaluate the success of prenatal diagnosis of GIT obstructions in a tertiary center in Turkey. ...The prenatal detection rate among all cases was 60.7%. These findings demonstrate the importance of prenatal ultrasonography and success of prenatal detection especially for upper GIT abnormalities. Although there are some prenatal signs of GIT obstructions, such as double bubble, polyhydramnios, enlarged bowel, and failure to visualize the stomach, early prenatal diagnosis is difficult and can be delayed, resulting in the detection of GIT obstruction after birth. When suspecting GIT obstruction, clinicians should evaluate the fetal anatomy carefully and be aware of associated chromosomal abnormalities."ultrasound
  • Patient characteristics are important determinants of neurodevelopmental outcome during infancy in giant omphalocele[3] "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
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Search term: Abnormal Development Gastrointestinal Tract


Movies

Cleft lip 02.jpg
 ‎‎Cleft Lip 15 Week
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Cleft lip 01.jpg
 ‎‎Cleft Lip 18 Week
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Gastroschisis 01.jpg
 ‎‎Gastroschisis
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Omphalocele 01 icon.jpg
 ‎‎Omphalocele
Page | Play

Statistics

Australian

Australian abnormalities 81-92 git.jpg 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).

USA Selected Statistics  
USA Selected Abnormalities (CDC National estimates for 21 selected major birth defects 2004–2006)  
Birth Defects Cases per Births (1 in ...) Estimated Annual Number of Cases
anencephaly 4,859 859
spina bifida without anencephaly 2,858 1,460
encephalocele 12,235 341
Anophthalmia/microphthalmia 5,349 780
patent ductus arteriosus‎/common truncus 13,876 301
transposition of the great vessels 3,333 1,252
Tetralogy of Fallot 2,518 1,657
atrial septal defects/ventricular septal defects 2,122 1,966
hypoplastic left heart 4,344 960
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
Reduction deformity, upper limbs 2,869 1,454
Reduction deformity, lower limbs 5,949 701
gastroschisis 2,229 1,871
omphalocele 5,386 775
Diaphragmatic hernia 3,836 1,088
Trisomy 13 7,906 528
Trisomy 21 (Down syndrome) 691 6,037
Trisomy 18 3,762 1,109
Links: Human Abnormal Development | CDC Birth Defects - Data & Statistics | USA Statistics | Victoria 2004 | USA 2006 | Europe 2010

Some Recent Findings

  • A prospective observational study of associated anomalies in Hirschsprung's disease[4] "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[5] "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[6] "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  
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Search term: Abnormal Development Gastrointestinal Tract | Oesophageal Atresia | Small Intestine Atresia | Situs Inversus Viscerum

Lumen Abnormalities

Gastrointestinal tract duplication sites based upon 78 clinical studies.[7]

There are several types of abnormalities (atresia, stenosis and duplication) that impact upon the continuity of the gastrointestinal tract lumen. Terminology is dependent upon both the form and location of the abnormality. This topic is covered in sub-headings later on this current page under the specific  ICD-11 coding.

 ICD-11 LB12.1 Atresia of oesophagus | LB14 Structural developmental anomalies of duodenum | LB20.21 Biliary atresia | LB15.1 Atresia of small intestine | LB17.0 Anorectal malformations


  • Atresia is an interruption of the tube lumen, the abnormality naming is based upon the anatomical location.
  • Stenosis is a narrowing of the tube lumen, the abnormality naming is based upon the anatomical location.
  • Duplication is an incomplete recanalization resulting in parallel lumens, this is really a specialized form of stenosis.


  • Pyloric atresia: The rarest type of congenital intestinal obstruction occurs in the pylorus, the opening between the stomach and the small intestine. Pyloric atresia occurs in approximately 1 in 1 million live births. Blockage of the pylorus due to a congenital atresia can be caused by a web or, in rare cases, the absence of the pylorus, resulting in a blind ending stomach and the lack of connection between the stomach and the duodenum.
  • Duodenal atresia: Duodenal atresia occurs in approximately 1 in 6,000 to 1 in 10,000 live births and is the most common congenital small bowel obstruction diagnosed prenatally. This type of atresia occurs in the duodenum, the first part of small intestine that is connected to stomach.
  • Jejunoileal atresia: The most common type of neonatal intestinal obstruction, jejunoileal atresia occurs in 1 in 1,000 to 1 in 3,000 live births. Two cases of jejunoileal atresia are reported for every one case of duodenal atresia. Jejunoileal atresia refers to a congenital bowel obstruction occurring in one of two different parts of the small bowel and thus may be further classified:


Links: Image - small intestine duplication

Salivary Glands

LB10 Structural developmental anomalies of salivary glands or ducts

 ICD-11 LB10 Structural developmental anomalies of salivary glands or ducts - Any condition caused by failure of the salivary glands and ducts to correctly develop during the antenatal period.

Links: PubMed - salivary gland abnormality | salivary gland

Pharynx

LB11 Congenital diverticulum of pharynx

 ICD-11 LB11 Congenital diverticulum of pharynx - A condition caused by failure of the pharynx to correctly develop during the antenatal period. This condition may present with difficulty swallowing, or may be asymptomatic. Confirmation is through observation of a diverted pharynx by imaging.

Links: PubMed - Pharynx abnormality | Template:Pharynx

Oesophagus

 ICD-11 LB12 Structural developmental anomalies of oesophagus - Any congenital defect of oesophagus that results from interference with the normal growth and differentiation of the fetus.

LB12.0 Congenital oesophageal web or ring | LB12.1 Atresia of oesophagus | LB12.2 Oesophageal fistula without atresia | LB12.3 Congenital stenosis or stricture of oesophagus | LB12.4 Congenital diverticulum of oesophagus | LB12.5 Congenital dilatation of oesophagus

Links: PubMed - Oesophagus abnormality | PubMed - congenital oesophageal web | PubMed - oesophageal atresia | oesophagus

LB12.0 Congenital oesophageal web or ring

 ICD-11 LB12.0 Congenital oesophageal web or ring - A rare form of incomplete oesophageal obstruction due to a developmental defect of the primitive foregut that presents as a mucosal lesion forming an incomplete diaphragm. Symptoms (apparent from birth) include dysphagia, regurgitation, and choking.

LB12.1 Atresia of oesophagus

 ICD-11 LB12.1 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.

X-ray Classification[8]
Oesophageal atresia x-ray 01.jpg Classification of Oesophageal atresia.jpg


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.[9] There are alternative prognostic classification systems.[10] See also this oesophageal atresia review.[11]


Smith1957 fig01.jpg Vogt’s historic classification of atresia of the esophagus. Type I, atresia of entire esophagus. Type ll, atresia of a segment of the esophagus with defined upper and lower esophageal pouches. Type III, atresia of the esophagus with tracheoesophageal fistula: rz, fistula between the upper esophageal segment and the trachea; b, fistula between the lower esophageal segment and the trachea; c, fistulae between both esophageal segments and the trachea.[12]

Atresia of oesophagus with tracheo-oesophageal fistula, Atresia of oesophagus with broncho-oesophageal fistula, OA/TOF)


This abnormality has been shown to be associated with TBX1 mutations that also include DiGeorge syndrome.[13]

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

LB12.2 Oesophageal fistula without atresia

 ICD-11 LB12.2 Oesophageal fistula without atresia - This is a birth defect (congenital anomaly) of oesophagus, and one type of EA/TEF, namely isolated "H"-shaped atresia. Tracheoesophageal fistula in which there is no esophageal atresia because the esophagus is continuous to the stomach. Fistula is present between the esophagus and the trachea. Incidence of TE fistula without atresia varies between 1 -11% of esophageal malformations.

LB12.3 Congenital stenosis or stricture of oesophagus

 ICD-11 LB12.3 Congenital stenosis or stricture of oesophagus - A form of incomplete oesophageal obstruction due to a developmental defect of the primitive foregut. Abnormal narrowing of the oesophagus occurs most often at the junction of the middle and lower thirds. Clinical manifestations, apparent 2 to 3 weeks after birth, include dysphagia and progressive vomiting.

LB12.4 Congenital diverticulum of oesophagus

 ICD-11 LB12.4 Congenital diverticulum of oesophagus - A very rare congenital diverticulum which is typically located just above the cricopharyngeal junction. It is usually asymptomatic unless complicated by an inflammatory process. If the diverticulum compresses the trachea or is associated with oesophageal stenosis or fistula, the symptoms of stridor, progressive dysphagia, respiratory distress, severe choking, and regurgitation may be present from birth.

LB12.5 Congenital dilatation of oesophagus

 ICD-11 LB12.5 Congenital dilatation of oesophagus - This is a congenital abnormal enlargement of the lower portion of the esophagus, as seen in patients with achalasia.

Stomach

 ICD-11 LB13 Structural developmental anomalies of stomach - Any congenital defect of stomach that results from interference with the normal growth and differentiation of the fetus.

LB13.0 Congenital hypertrophic pyloric stenosis | LB13.1 Congenital hiatus hernia | LB13.2 Congenital antral web | DA40.2 Gastric volvulus

LB13.0 Congenital hypertrophic pyloric stenosis

 ICD-11 LB13.0 Congenital hypertrophic pyloric stenosis

A not uncommon congenital malformation of the stomach of unknown cause in which there is hypertrophy and hyperplasia of the circular muscle of the pylorus. Symptoms of gastric outlet obstruction usually appear between the third and sixth weeks of life. The anomaly is manifested by intermittent vomiting (which increases in frequency and becomes projectile), regurgitation, weight loss, dehydration, electrolyte imbalance, sometimes a small palpable pyloric mass, and visible peristaltic contractions across the epigastrium; there may also be jaundice. Some cases appear to be familial (possibly of autosomal dominant inheritance).


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

LB13.1 Congenital hiatus hernia

 ICD-11 LB13.1 Congenital hiatus hernia - Congenital diaphragmatic hernia is an embryopathy which is defined by the absence of development of all or part of the diaphragmatic dome that results in the presence of abdominal viscera in the thorax, whit compression of the homolateral lung and impaired development of the controlateral lung.

LB13.2 Congenital antral web

 ICD-11 LB13.2 Congenital antral web

DA40.2 Gastric volvulus

 ICD-11 DA40.2 Gastric volvulus - Gastric volvulus is an uncommon clinical entity defined as an abnormal rotation (twisting) of all or part of the stomach by more than 180 degrees, creating a closed-loop obstruction of the flow of material through the stomach. It can result in incarceration and strangulation, with variable loss of blood supply. Although rare in childhood, a wandering spleen may also be associated with gastric volvulus, because they share a common etiology: congenital absence of intraperitoneal visceral attachments.


Duodenum

Duodenal Atresia

Duodenal atresia barium x-ray
Duodenal atresia in a female infant with Trisomy 21 (barium x-ray)[14]
 ICD-11 LB14 Structural developmental anomalies of duodenum

Duodenal Atresia occurs in approximately 1 in 2500–7500 live births without a sex-associated difference. About 25–40% of infants with duodenal atresia have Trisomy 21 and 8% of infants with Trisomy 21 have this condition. There is also an identified association of VACTERL anomalies (vertebral, anorectal, cardiac, tracheoesophageal, renal, and limb anomalies).

Duodenal Atresia[14]
Duodenal atresia 02.jpg (a) Upper gastrointestinal series showing a complete obstruction of the duodenum and contrast filling of anomalous bifurcated bile ducts (arrows). The small contrast was also noted in the distal bowel (arrowheads).

(b) Upper gastrointestinal series showing a complete obstruction at the second portion of the duodenum, and contrast was seen in the proximal jejunum which is located in the right upper quadrant. The proximal location of the jejunum indicates a malrotation of the intestine without evidence of a small bowel obstruction.

(c) Diagram showing biliary tract abnormality associated with duodenal atresia.

(PD — proximal duodenum, Je — jejunum, and CBD — common bile duct, text from figure legend)

Duodenal Atresia (Mouse Model)[15]
Duodenal atresia 03.jpg A recent mouse knock-out study has shown a single-gene deletion of Fgf10 can generate duodenal atresia in this animal model.[15]


(A) Normal gastric, pyloric, and duodenal morphology was demonstrated by wild type embryos.

Null Fgf10 embryos universally demonstrated microgastria, but duodenal morphology varied according to presence and type of DA. Null embryos provided examples of: normal continuity and morphology of the duodenum for tm1 (D) and tm2 (E); type 1 DA, tm1 (F) and tm2 (G); type 2 DA, tm1 (H) and tm2 (I); and type 3 DA, tm1 (J) and tm2 (K).


(L) Type 2 DA demonstrating a “double bubble” with significantly dilated proximal duodenum; tm2.


(M) Type 3 DA demonstrating an intact esophagus, in the presence of tracheal atresia; tm1. Annotations denote genotype, scale bars, and location of pylorus, P. Arrows indicate location atresia in type 1 DA and type 2 DA examples.

Links: PubMed - Duodenal Atresia | Trisomy 21 | VACTERL | FGF

Small Intestine

 ICD-11 LB15 Structural developmental anomalies of small intestine - LB15.0 Meckel diverticulum | LB15.1 Atresia of small intestine | LB15.2 Congenital short bowel | LB15.3 Congenital diverticulitis of small intestine | LB15.4 Congenital diverticulosis of small intestine | LB15.5 Congenital diverticulum of small intestine

LB15.0 Meckel diverticulum

 ICD-11 LB15.0 Meckel diverticulum - congenital abnormality characterized by the outpouching or sac formation in the ileum. It is a remnant of the embryonic yolk sac in which the vitelline duct failed to close. During early gestation, the ompahlomesenteric or vitelline duct connects the fetal yolk sac to the primitive gut. By 7-8 weeks of gestation, this duct is normally completely obliterated. A Meckel diverticulum results when this structure fails to resorb completely.

Meckel's diverticulum 01.jpgMeckel's diverticulum 02.jpgMeckel's diverticulum 03.jpg

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).

Historic Embryology  
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This historic 1916 textbook by Cullen describes the umbilical region development and abnormalities including Chapter 8 on Meckel's diverticulum.


Historic Disclaimer - information about historic embryology pages 
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Pages where the terms "Historic Textbook" and "Historic Embryology" appear on this site, and sections within pages where this disclaimer appears, indicate that the content and scientific understanding are specific to the time of publication. This means that while some scientific descriptions are still accurate, the terminology and interpretation of the developmental mechanisms reflect the understanding at the time of original publication and those of the preceding periods, these terms and interpretations may not reflect our current scientific understanding.     (More? Embryology History | Historic Embryology Papers)


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


LB15.1 Atresia of small intestine

 ICD-11 LB15.1 Atresia of small intestine - Jejunoileal atresias and stenoses are major causes of neonatal intestinal obstruction. Atresia refers to a congenital obstruction with complete occlusion of the intestinal lumen. It accounts for 95% of obstructions. Four types of jejunoileal atresias are described. They can range from having a small area of blockage or web to missing large sections of the intestines. Intestinal atresia is one of the most frequent causes of bowel obstruction in the newborn. The ileal atresia is more common than jejunal atresia, and multiple foci are more common than isolated atresia. The most accepted theory regarding the etiology of jejunoileal atresia is that of an intrauterine vascular accident resulting in necrosis of the affected segment. Stenosis, on the other hand, refers to a partial occlusion with incomplete obstruction and accounts for the remaining 5% of cases. A stenosis has an intact mesentery and is a localized narrowing of the bowel. No loss of continuity of the lumen exists.

Jejunal atresia[16]
Jejunal atresia 01.jpg Jejunal atresia (jejunoileal atresia, JIA) with mesenteric cyst. Peroperative photograph showing jejunal atresia with mesenteric cyst.

Jejunal atresia incidence varies from 1:330 and 1:400 live births, while in some reports to between 1:1,500 and 1:3,000 live births.

  • Broad arrow - is pointing towards the jejunal atresia and associated mesenteric cyst.
  • Long narrow arrow - is pointing towards the proximal dilated jejunum.

LB15.2 Congenital short bowel

 ICD-11 LB15.2 Congenital short bowel - Short bowel syndrome is a condition in which nutrients are not properly absorbed due to a congenital defect where a large part of the small intestine is missing.

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

LB15.3 Congenital diverticulitis of small intestine

 ICD-11 LB15.3 Congenital diverticulitis of small intestine - This refers to a clinical entity characterized by the presence of sac-like congenital herniations in the wall of the small intestine, in which the pouches of small intestine (diverticula) become infected or inflamed.

LB15.4 Congenital diverticulosis of small intestine

 ICD-11 LB15.4 Congenital diverticulosis of small intestine - This refers to a condition characterized by the presence of congenital multiple sack-like mucosal herniations called diverticula through weak points in the wall or lining of the small intestine. Most people with diverticulosis do not have any discomfort or symptoms. However, some people may experience pain or discomfort in the abdomen, bloating, and bleeding.

LB15.5 Congenital diverticulum of small intestine

 ICD-11 LB15.5 Congenital diverticulum of small intestine - This refers to a morphological condition in which there is single small congenital pouch in the lining of the small intestine, bulging outward through a weak spot.

DA91.1 Volvulus of small intestine

Midgut volvulus
Midgut volvulus

 ICD-11 DA91.1 Volvulus of small intestine - A volvulus is an abnormal twisting of the intestine around the axis of its own mesentery, resulting in obstruction of the more proximal bowel. Twisting of the mesentery may involve the mesenteric vessels and so make the involved loop particularly susceptible to strangulation and gangrene, with resulting perforation, peritonitis, and sepsis.


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.

BD92.0 Intestinal lymphangiectasia

 ICD-11 BD92.0 Intestinal lymphangiectasia - Intestinal lymphangiectasia is a pathologic dilation of lymph vessels of intestinal mucosa. This results in lymph leakage into the small bowel lumen and responsible for protein-losing enteropathy.

Intestinal lymphangiectasia 01.jpg Primary intestinal lymphangiectasia (Waldmann's disease[17]) is a rare disorder generally diagnosed before 3 years of age.[18]

Duodenal biopsy histology showing markedly dilated lymphatic ducts (Stain - Periodic acid-Schiff)


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

Appendix

 ICD-11 DB11 Certain specified diseases of appendix - Diseases of appendix other than appendicitis or neoplasm. This includes intussusception, mucocele, hyperplasia, appendicular concretions, diverticulum, fistula and other specified diseases of appendix.

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[19] and a later modified by Wallbridge in 1963[20], subsequently two more types of appendix abnormalities have been identified.[21][22]

Modified Cave-Wallbridge Appendix Duplication Classification
Classification 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
Data source: [23]


Large Intestine

 ICD-11 LB16 Structural developmental anomalies of large intestine - LB16.0 Congenital absence, atresia or stenosis of large intestine | LB16.1 Hirschsprung disease | LB16.2 Immature ganglionosis of large intestine | LB16.3 Congenital hypoganglionosis of large intestine

LB16.0 Congenital absence, atresia or stenosis of large intestine

 ICD-11 LB16.0 Congenital absence, atresia or stenosis of large intestine - Colonic atresia is a congenital intestinal malformation resulting in a non-latent segment of the colon and characterized by lower intestinal obstruction manifesting with abdominal distention and failure to pass meconium in newborns.

LB16.1 Hirschsprung disease

 ICD-11 LB16.1 Hirschsprung disease - This is a developmental anomaly affecting the intestinal tract characterized by congenital absence of myenteric ganglion cells (aganglionosis) in a segment of the large bowel. Due to the absence of intrinsic innervation of the muscle layers of the affected segment, there is a loss of motor function. This results in an abnormally large or dilated colon (congenital megacolon) with intestinal occlusion or constipation. This condition becomes evident shortly after birth.


(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 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.


Megacolon stoma1.jpg Megacolon stoma2.jpg  
Ostomy - Aganglionic portion removed Stoma - intestine attached to the abdomen wall
Megacolon surgery 01.jpg Megacolon surgery 02.jpg Megacolon surgery 03.jpg
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


LB16.2 Immature ganglionosis of large intestine

 ICD-11 LB16.2 Immature ganglionosis of large intestine - When the number of ganglion cells is normal but the ganglion cells are prominently immature, the disease is referred to as immature ganglionosis or immaturity of ganglia.

LB16.3 Congenital hypoganglionosis of large intestine

 ICD-11 LB16.3 Congenital hypoganglionosis of large intestine - The number and size of ganglion cells are small at birth. The size of ganglion cells tends to increase over time, but because their numbers do not increase the symptoms of dysmotility do not improve.Taguchi T, Masumoto K, Ieiri S, Nakatsuji T & Akiyoshi J. (2006). New classification of hypoganglionosis: congenital and acquired hypoganglionosis. J. Pediatr. Surg. , 41, 2046-51. PMID: 17161202 DOI.

DB30.1 Volvulus of large intestine

 ICD-11 DB30.1 Volvulus of large intestine - A volvulus is an abnormal twisting of the intestine around the axis of its own mesentery, resulting in obstruction of the more proximal bowel. Twisting of the mesentery may involve the mesenteric vessels and so make the involved loop particularly susceptible to strangulation and gangrene, with resulting perforation, peritonitis, and sepsis. The classical sites of large intestinal volvulus are the caecum and the sigmoid colon, although there are reports of volvulus of the transverse colon and the splenic flexuture.

Cecal volvulus Sigmoid volvulus
Cecal volvulus Sigmoid volvulus

KB87.1 Meconium plug without ileus

 ICD-11 KB87.1 Meconium plug without ileus - Meconium plug, also referred to as functional immaturity of the colon, is an obstruction in the newborn colon. It is usually a transient disorder of the newborn and is characterized by delayed passage of meconium and intestinal dilatation.

(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[24] 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."

Anal Canal

 ICD-11 LB17 Structural developmental anomalies of anal canal - LB17.0 Anorectal malformations | LB17.1 Ectopic anus | LB17.2 Persistent cloaca | LB17.3 Cloacal exstrophy | LB17.4 Perineal groove

LB17.0 Anorectal malformations

 ICD-11 LB17.0 Anorectal malformations - Anorectal malformations (ARMs) are birth defects (due to alterations in embryo development of hindgut or proctodeum) where the anus and rectum (the lower end of the digestive tract) do not develop properly. They occur in approximately 1 in 5000 live births. These comprise a wide spectrum of diseases, which can affect boys and girls, and involve the distal anus and rectum as well as the urinary and genital tracts. Several abnormalities can occur, including the following: A membrane may be present over the anal opening; The rectum may not connect to the anus (imperforate anus); The rectum may connect to a part of the urinary tract or the reproductive system through an abnormal passage called a fistula. The classification of ARMs is mainly based on the position of the rectal pouch relative to the puborectal sling, the presence or absence of fistulas, and the types and locations of the fistulas. The following classification is according to the level of the atretic rectal cul-de-sac with respect to the pubococcygeal line (the radiological landmark for the upper border or the levator ani muscle).


Persistent cloaca perineum[25]

(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[25]. 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 data Levitt and Peña (2007)[25]


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.


LB17.1 Ectopic anus

 ICD-11 LB17.1 Ectopic anus - While children with imperforate or obviously mislocated anus are identified in the newborn period, some children with a very mild abnormality may escape identification until after the newborn period. This mild mislocation of the anus has been termed anterior ectopic anus. Anterior ectopic anus is different from imperforate anus with perineal fistula in that the anal opening is usually of normal size, and only mildly misplaced. Most of these children come to medical attention due to severe constipation.

LB17.2 Persistent cloaca

 ICD-11 LB17.2 Persistent cloaca - A congenital anomaly in which the intestinal, urinary, and reproductive ducts open into a common cavity, a result of the failure of the urorectal septum to form during prenatal development. They occur exclusively in girls and comprise the most complex defect in the spectrum of anorectal malformations.


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.

Links: cloaca

LB17.3 Cloacal exstrophy

 ICD-11 LB17.3 Cloacal exstrophy - Rare and complex anorectal and genitourinary malformation in which rectum, vagina and urinary tract share a common everted orifice, accompanied by an omphalocele and an imperforate anus. Exstrophy of the cloaca is a well-known malformation that includes the persistence and the exstrophy of a cloaca that receives ureters, ileum and a rudimentary hindgut. Cloacal exstrophy is a severe birth defect wherein much of the abdominal organs (the bladder and intestines) are exposed. It often causes the splitting of both male and female feitalia (specifically, the penis and clitoris respectively), and the anus is occasionally sealed.

Links: cloaca

LB17.4 Perineal groove

 ICD-11 LB17.4 Perineal groove - The perineal groove describes a normal vestibule but with a groove extending from the vestibule to the anus, which is both normal sized and positioned.


Intestinal Fixation

 ICD-11 LB18 Congenital anomalies of intestinal fixation - A condition caused by failure of the intestines to correctly develop during the antenatal period. This condition may present with intermittent abdominal pain, vomiting, or diarrhoea. Confirmation is through observation of intestinal rotation by imaging.


A study has suggested that malrotation may result from the stunted embryonic development of intestinal secondary loops.[26]

Intestinal malrotation.jpg 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 band-01.jpg

Ladd's Bands[27]

A series of bands crossing the duodenum which can cause duodenal obstruction.

Abnormalities of Liver, Biliary Tract, Pancreas, and Spleen

For more details on these gastrointestinal tract organs see specific organ pages (liver, gall bladder, pancreas, spleen). Information below is a summary of the  ICD-11 information.

 ICD-11
LB21 Structural developmental anomalies of pancreas | LB22 Structural developmental anomalies of spleen

Liver

 ICD-11 LB20 Structural developmental anomalies of gallbladder, bile ducts or liver

LB20.00 Fibropolycystic liver disease

LB20.21 Biliary atresia - Biliary atresia is a rare disease characterised by an inflammatory biliary obstruction of unknown origin that presents in the neonatal period. It is the most frequent surgical cause of cholestatic jaundice in this age group. Untreated, this condition leads to cirrhosis and death within the first years of life.

Gall Bladder

LB20.1 Structural developmental anomalies of gallbladder

See also gall bladder notes.

LB20.10 Agenesis, aplasia or hypoplasia of gallbladder

LB20.10 Agenesis, aplasia or hypoplasia of gallbladder

Bile Ducts

LB20.2 Structural developmental anomalies of bile ducts

LB20.20 Choledochal cyst

LB20.20 Choledochal cyst

LB20.21 Biliary atresia

LB20.21 Biliary atresia - Biliary atresia is a rare disease characterised by an inflammatory biliary obstruction of unknown origin that presents in the neonatal period. It is the most frequent surgical cause of cholestatic jaundice in this age group. Untreated, this condition leads to cirrhosis and death within the first years of life.


LB20.22 Congenital stenosis or stricture of bile ducts

LB20.22 Congenital stenosis or stricture of bile ducts (Congenital hypoplasia of bile ducts)

LB20.23 Structural developmental anomalies of cystic duct

LB20.23 Structural developmental anomalies of cystic duct

LB20.24 Accessory bile duct

LB20.24 Accessory bile duct

Pancreas

See also pancreas notes.

LB21 Structural developmental anomalies of pancreas

 ICD-11 LB21 Structural developmental anomalies of pancreas

LB21.0 Annular pancreas - Annular pancreas is a distinct form of duodenal atresia in which the head of the pancreas forms a ring around the second portion of the duodenum. During the neonatal period, the clinical picture is dominated by epigastric distension with vomiting, which is nonbilious as the obstruction is usually supra-vaterian. Chromosomal abnormalities are present in one-third of cases of annular pancreas, with trisomy 21 (followed by trisomy 18 and 13) being the most frequently detected anomaly. Annular pancreas is an embryopathy resulting from an anomaly occurring early (towards the fourth week) in development.

LB21.1 Pancreas divisum - This is a congenital anomaly in the anatomy of the ducts of the pancreas in which a single pancreatic duct is not formed, but rather remains as two distinct dorsal and ventral ducts.

LB21.2 Accessory pancreas - Accessory pancreas is an asymptomatic embryopathy characterized by the presence of pancreatic tissue in other sites of the body such as the splenic pedicle, gonadic pedicles, intestinal mesentery, duodenum wall, upper jejunum, or, more rarely, the gastric wall, ileum, gallbladder or spleen.

LB21.3 Agenesis-aplasia of pancreas - This refers to the failure of an organ to develop during embryonic growth and development due to the absence of primordial tissue of the pancreas.

LB21.4 Partial agenesis of pancreas - Partial agenesis of the pancreas is characterized by the congenital absence of a critical mass of pancreatic tissue. The severity of the disease depends on the amount of functional pancreatic tissue present. Pancreatic agenesis is commonly associated with other malformations, in particular pancreaticobiliary duct anomalies, leading to acute or chronic pancreatitis, hyperglycemia (50% of cases), or, more rarely, polysplenia.

LB21.5 Hypoplasia of pancreas

Spleen

See also spleen notes.

 ICD-11 LB22 Structural developmental anomalies of spleen

LB22.0 Congenital Asplenia

LB22.0 Congenital asplenia - A condition caused by failure of the spleen to develop during the antenatal period. This condition may present with pneumococcal sepsis. Confirmation is through verification of no spleen by imaging.

Links: PubMed search

LB22.1 Polysplenia

LB22.1 Polysplenia - A condition caused by the development of supernumerary spleens during the antenatal period. This condition may present with cardiac defects, anomalies in abdominal organs, or may be asymptomatic.

Links: PubMed search

LB22.2 Ectopic Spleen

LB22.2 Ectopic spleen

Links: PubMed search

Abdominal Wall

LB01 Omphalocele

 ICD-11 Structural developmental anomalies of the diaphragm, abdominal wall or umbilical cord - LB01 Omphalocele

Omphalocele is an embryopathy classified in the group of abdominal celosomias and is characterized by a large hernia of the abdominal wall, centered on the umbilical cord, in which the protruding viscera are protected by a sac.

CDC National estimates for 21 selected major birth defects (2004–2006) showed that omphalocele cases were 1 in 5,386 per births and with 775 estimated annual number of cases.


Omphalocele ruptured during birth exposing liver and small intestine.[28]
The omphalocele, pubic diastasis, loss of pubic bones and polydactyly in Gli3Xt; Alx4Lst; Shh combinatorial mutants.[29]

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.


A recent study in Six4 and Six5 KO mouse has shown similar ventral body wall defects reproducing human omphalocele[1] (More? SIX)


  • 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

LB02 Gastroschisis

 ICD-11 Structural developmental anomalies of the diaphragm, abdominal wall or umbilical cord - LB02 Gastroschisis

Gastroschisis is a congenital abdominal wall defect characterized by viscera protruding, without a covering sac, from the fetal abdomen on the right lateral base of the umbilicus.

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

CDC National estimates for 21 selected major birth defects (2004–2006) showed that gastroschisis cases were 1 in 2,229 per births and with 1,871 estimated annual number of cases.

Gastroschisis cartoon.jpg

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.

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[30] or a vascular disruption[31] or are associated with the pathogenesis. A study has also shown that herpesvirus does not play a role in the etiology of gastroschisis.[32]


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 patients are commonly small for gestational age (SGA, birth weight < 10th centile). Frequency line graphs of the birth weight distribution.[33]
  • black line - gastroschisis cases
  • gray line - controls

Gastroschisis birth weight graph.jpg

Gastroschisis Ultrasound

Gastroschisis 01.jpg


Gastroschisis 01.jpg
 ‎‎Gastroschisis
Page | Play


Gastroschisis Classification

There has been a recent attempt to classify gastroschisis in order to measure clinical outcomes.[34]

  • 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: Ultrasound Movie | Gastroschisis | Search PubMed - Gastroschisis

Obstetric Cholestasis

 ICD-11 {{ICD11weblink}1110228123 JA65.0 Liver disorders in pregnancy, childbirth or the puerperium]

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)

Inborn Errors of Metabolism

 ICD-11
5C51 Inborn errors of carbohydrate metabolism | 5C52 Inborn errors of lipid metabolism | 5C53 Inborn errors of energy metabolism | 5C54 Inborn errors of glycosylation or other specified protein modification | 5C55 Inborn errors of purine, pyrimidine or nucleotide metabolism | 5C56 Lysosomal diseases | 5C57 Peroxisomal diseases | 5C58 Inborn errors of porphyrin or heme metabolism | 5C5A Alpha-1-antitrypsin deficiency

5C50.0 Phenylketonuria

 ICD-11
5C50.0 Phenylketonuria
Phenylketonuria is a hereditary metabolic disease, characterized by deficiency of phenylalanine hydroxylase, an enzyme necessary for the transformation of phenylalanine into tyrosine. Untreated, phenylketonuria leads to mental retardation, sometimes profound, as well as hypopigmentation. Dietary phenylalanine restriction allows patients to lead almost normal lives.

5C50.00 Classical phenylketonuria | 5C50.01 Nonclassical phenylketonuria | 5C50.02 Embryofetopathy due to maternal phenylketonuria

Incidence is about 1 in 10,000 live births (about 10 babies per year). PKU causes high blood levels of phenylalanine and severe intellectual disability. A diet low in phenylalanine, started in the first two to three weeks results in normal development.

5C50.00 Classical phenylketonuria - Classical phenylketonuria is a severe form of phenylketonuria (PKU, ) an inborn error of amino acid metabolism characterized in untreated patients by severe intellectual deficit and neuropsychiatric complications.

5C50.01 Nonclassical phenylketonuria - Mild phenylketonuria is a rare form of phenylketouria (PKU, ), an inborn error of amino acid metabolism, characterized by symptoms of PKU of mild to moderate severity.

5C50.02 Embryofetopathy due to maternal phenylketonuria - Maternal phenylalaninemia refers to developmental anomalies that may occur in offspring of women affected by phenylketonuria (PKU), and include fetal development disorders, including microcephaly, intrauterine growth retardation, and subsequent intellectual deficit, and embryo development disorders such as heart defects (usually conotruncal), corpus callosus agenesis, neuronal migration disorders, facial dysmorphism and more rarely cleft palate, tracheo-esophageal abnormalities.

Links: Guthrie test - Phenylketonuria | OMIM | Search PubMed - Phenylketonuria

5C51.4 Disorders of galactose metabolism

 ICD-11
5C51 Inborn errors of carbohydrate metabolism - 5C51.4 Disorders of galactose metabolism
Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease.

5C51.40 Galactose-1-phosphate uridyltransferase deficiency | 5C51.41 Galactokinase deficiency | 5C51.42 Glucose or galactose intolerance of newborn

Galactosaemia incidence is about 1 in 40,000 births, about 1-3 cases per year. See a recent disease review[35] and a Cochrane Database review.[36] Babies cannot process galactose, a component of lactose. Life-threatening liver failure and infections can occur. A galactose-free diet instituted in the first week can be life saving.

5C51.41 Galactokinase deficiency - is a rare mild form of galactosemia characterized by early onset of cataract and an absence of the usual signs of classic galactosemia, i.e. feeding difficulties, poor weight gain and growth, lethargy, and jaundice.

Links: milk | Guthrie test | OMIM)Search PubMed - Galactosaemia


5C52 Inborn errors of lipid metabolism

5C53 Inborn errors of energy metabolism

5C54 Inborn errors of glycosylation or other specified protein modification - Congenital Disorders of Glycosylation (CDG) syndromes are a group of glycoprotein synthesis disorders characterized by neurological manifestations that can be associated with multivisceral involvement. The CDG syndromes are associated with different enzymatic deficits.

5C55 Inborn errors of purine, pyrimidine or nucleotide metabolism

5C56 Lysosomal diseases

{{ICD11weblink}782299726 5C57 Peroxisomal diseases] - Peroxisomal disorders represent a class of medical conditions caused by defects in peroxisome functions. This may be due to defects in single enzymes important for peroxisome function or in peroxins, proteins encoded by PEX genes that are critical for normal peroxisome assembly and biogenesis.

5C58 Inborn errors of porphyrin or heme metabolism

5C59 Inborn errors of neurotransmitter metabolism

5C5A Alpha-1-antitrypsin deficiency

 ICD-11 5C5A Alpha-1-antitrypsin deficiency

Alpha-1-antitrypsin deficiency (AATD) is a genetic disorder that manifests as pulmonary emphysema, liver cirrhosis and, rarely, as the skin disease panniculitis, and is characterized by low serum levels of AAT, the main protease inhibitor (PI) in human serum.

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 Ileus

Is a similar meconium obstruction occurring within the small intestine ileum due to abnormal meconium properties possibly associated with abnormalities of small intestine function.


Links: U Mich - Meconium Plug Syndrome

Intestinal Perforation

Usually identified in neonates a disorder due to to one or a combination of:

  1. necrotizing enterocolitis
  2. Hirschsprung’s disease
  3. meconium ileus

International Classification of Disease

 ICD-11 - Structural developmental anomalies of the digestive tract (LB10 - LB18)
  • LB10 Structural developmental anomalies of salivary glands or ducts
  • LB11 Congenital diverticulum of pharynx
  • LB12 Structural developmental anomalies of oesophagus  
    • LB12.1 Congenital oesophageal web or ring  
    • LB12.2 Atresia of oesophagus  
    • LB12.3 Oesophageal fistula without atresia  
    • LB12.4 Congenital stenosis or stricture of oesophagus  
    • LB12.5 Congenital diverticulum of oesophagus  
    • LB12.6 Congenital dilatation of oesophagus  
    • LB12.Y Other specified structural developmental anomalies of oesophagus  
    • LB12.Z Structural developmental anomalies of oesophagus, unspecified  
  • LB13 Structural developmental anomalies of stomach  
  • LB14 Structural developmental anomalies of duodenum  
  • LB15 Structural developmental anomalies of small intestine  
  • LB16 Structural developmental anomalies of large intestine  
  • LB17 Structural developmental anomalies of anal canal  
  • LB18 Congenital anomalies of intestinal fixation  
  • DA02.1 Genetic or developmental disorders involving lips or oral mucosa  
  • LB1Y Other specified structural developmental anomalies of the digestive tract  
  • LB1Z Structural developmental anomalies of the digestive tract, unspecified  
  • Inborn Errors of Metabolism
  • 13 Diseases of the digestive system
gastrointestinal abnormalities |  ICD-11
International Classification of Diseases - Structural developmental anomalies of the digestive tract 
 ICD-11 - Structural developmental anomalies of the digestive tract (LB10 - LB18)
  • LB10 Structural developmental anomalies of salivary glands or ducts
  • LB11 Congenital diverticulum of pharynx
  • LB12 Structural developmental anomalies of oesophagus  
    • LB12.1 Congenital oesophageal web or ring  
    • LB12.2 Atresia of oesophagus  
    • LB12.3 Oesophageal fistula without atresia  
    • LB12.4 Congenital stenosis or stricture of oesophagus  
    • LB12.5 Congenital diverticulum of oesophagus  
    • LB12.6 Congenital dilatation of oesophagus  
    • LB12.Y Other specified structural developmental anomalies of oesophagus  
    • LB12.Z Structural developmental anomalies of oesophagus, unspecified  
  • LB13 Structural developmental anomalies of stomach  
  • LB14 Structural developmental anomalies of duodenum  
  • LB15 Structural developmental anomalies of small intestine  
  • LB16 Structural developmental anomalies of large intestine  
  • LB17 Structural developmental anomalies of anal canal  
  • LB18 Congenital anomalies of intestinal fixation  
  • DA02.1 Genetic or developmental disorders involving lips or oral mucosa  
  • LB1Y Other specified structural developmental anomalies of the digestive tract  
  • LB1Z Structural developmental anomalies of the digestive tract, unspecified  
  • Inborn Errors of Metabolism
  • 13 Diseases of the digestive system
gastrointestinal abnormalities |  ICD-11


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Reviews

Blask AN & Fagen K. (2016). Prenatal Imaging of the Gastrointestinal Tract with Postnatal Imaging Correlation. Ultrasound Q , 32, 15-24. PMID: 26086457 DOI.

Martin V & Shaw-Smith C. (2010). Review of genetic factors in intestinal malrotation. Pediatr. Surg. Int. , 26, 769-81. PMID: 20549505 DOI.

Strouse PJ. (2004). Disorders of intestinal rotation and fixation ("malrotation"). Pediatr Radiol , 34, 837-51. PMID: 15378215 DOI.

Levy AD & Hobbs CM. (2004). From the archives of the AFIP. Meckel diverticulum: radiologic features with pathologic Correlation. Radiographics , 24, 565-87. PMID: 15026601 DOI.

Chitkara DK, Nurko S, Shoffner JM, Buie T & Flores A. (2003). Abnormalities in gastrointestinal motility are associated with diseases of oxidative phosphorylation in children. Am. J. Gastroenterol. , 98, 871-7. PMID: 12738470 DOI.

D'Agostino J. (2002). Common abdominal emergencies in children. Emerg. Med. Clin. North Am. , 20, 139-53. PMID: 11826631

Boudiaf M, Soyer P, Terem C, Pelage JP, Maissiat E & Rymer R. (2001). Ct evaluation of small bowel obstruction. Radiographics , 21, 613-24. PMID: 11353110 DOI.

Articles

Mammadov E. (2018). Patent Omphalomesenteric Duct with Protruding Bowels through a Ruptured Omphalocele. Balkan Med J , 35, 118-119. PMID: 29400311 DOI.

Jones KL, Benirschke K & Chambers CD. (2009). Gastroschisis: etiology and developmental pathogenesis. Clin. Genet. , 75, 322-5. PMID: 19419414 DOI.

Feldkamp ML, Carey JC & Sadler TW. (2007). Development of gastroschisis: review of hypotheses, a novel hypothesis, and implications for research. Am. J. Med. Genet. A , 143A, 639-52. PMID: 17230493 DOI.

Cassart M, Massez A, Lingier P, Absil AS, Donner C & Avni F. (2006). Sonographic prenatal diagnosis of malpositioned stomach as a feature of uncomplicated intestinal malrotation. Pediatr Radiol , 36, 358-60. PMID: 16465538 DOI.

Ashraf A, Abdullatif H, Hardin W & Moates JM. (2005). Unusual case of neonatal diabetes mellitus due to congenital pancreas agenesis. Pediatr Diabetes , 6, 239-43. PMID: 16390394 DOI.

Beaudoin S, Mathiot-Gavarin A, Gouizi G & Bargy F. (2005). Familial malrotation: report of three affected siblings. Pediatr. Surg. Int. , 21, 856-7. PMID: 16205928 DOI.

Drewett M, Michailidis GD & Burge D. (2006). The perinatal management of gastroschisis. Early Hum. Dev. , 82, 305-12. PMID: 16563666 DOI.

Vegunta RK, Wallace LJ, Leonardi MR, Gross TL, Renfroe Y, Marshall JS, Cohen HS, Hocker JR, Macwan KS, Clark SE, Ramiro S & Pearl RH. (2005). Perinatal management of gastroschisis: analysis of a newly established clinical pathway. J. Pediatr. Surg. , 40, 528-34. PMID: 15793730 DOI.

Salomon LJ, Mahieu-Caputo D, Jouvet P, Jouannic JM, Benachi A, Grebille AG, Dumez Y & Dommergues M. (2004). Fetal home monitoring for the prenatal management of gastroschisis. Acta Obstet Gynecol Scand , 83, 1061-4. PMID: 15488122 DOI.

Langer JC. (2003). Abdominal wall defects. World J Surg , 27, 117-24. PMID: 12557047 DOI.

Search PubMed

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

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Cite this page: Hill, M.A. (2019, September 21) Embryology Gastrointestinal Tract - Abnormalities. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Gastrointestinal_Tract_-_Abnormalities

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