Atresia and Stenosis
The gastrointestinal tract can be considered as a simple tube or pipe, anything which blocks the tube (at different levels) can have different effects.
Gastrointestinal tract duplication sites based upon 78 clinical studies.
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There are two types of abnormalities that impact upon the continuity of the gastrointestinal tract lumen.
Atresia - interuption of the lumen (esophageal atresia, duodenal atresia, extrahepatic biliary atresia, anorectal atresia)
Stenosis - narrowing of the lumen (duodenal stenosis, pyloric stenosis)
Duplication - incomplete recanalization resulting in parallel lumens, this is really a specialized form of stenosis.
Persistent Vitelline Duct
Meckel's Diverticulum
Abnormal Gut Rotation
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Presents clinically in symptomatic malrotation as:
Neonates - bilious vomiting and bloody stools.
Newborn - bilious vomiting and failure to thrive.
Infants - recurrent abdominal pain, intestinal obstruction, malabsorption/diarrhea, peritonitis/septic shock, solid food intolerance, common bile duct obstruction, abdominal distention, and failure to thrive.
Ladd's Bands - are a series of bands crossing the duodenum which can cause duodenal obstruction.
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Midgut Volvulus, Situs Inversus
- Links: Gastrointestinal Tract - Abnormalities
Organ Abnormalities
Extrahepatic Biliary Atresia, Accessory Pancreatic Tissue, Anular Pancreas, Accessory Spleen
Motility Disorders
Aganglionic colon (Hirschprung's disease) - abnormalities of neural crest migration.
Related Abnormalities
Omphalocele
An abnormality appearing similar to gastroschisis, involves "covered by membranes" and a lack of normal return of the bowel to the abdominal cavity and has a different position relative to the umbilical cord. The origin differs, as this is a failure of midgut loops to return to the body cavity after initial herniation into the umbilical cord during week 6 - 10.
Abdominal Wall Defects
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Gastroschisis is a developmental abnormality occurs due to an abdominal wall defect, that allows the evisceration of the intestine.
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Clefting
Cleft lip and palate can affect postnatal nutrition, due to the inability of the infant to form a liquid seal on the breast during feeding.
- Links: Cleft Palate Foundation - feeding your baby
Cleft Lip
An abnormality of face development leading to an opening in the upper lip. Due to failure during the embryonic period of maxillary process fusion with the frontonasal prominence. Clefting of the lip and or palate occurs with 300+ different abnormalities. Depending on many factors, this cleft may extend further into the oral cavity leading to a cleft palate. In most cases clefting of the lip and palate can be repaired by surgery.
Cleft Palate
An abnormality of face development leading to an opening in the palate, the roof of the oral cavity between the mouth and the nose. If it occurs alone, due to failure during the early fetal period of palatal shelves. Clefting of the lip and or palate occurs with 300+ different abnormalities. In most cases clefting of the lip and palate can be repaired by surgery.
Galactosemia
A genetic enzyme deficiency disorder, the enzyme galactose-1-phosphate uridyl transferase metabolizes galactose in milk sugar. The incidence is approximately 1 in 60,000 births among Caucasians and the rate is different for other groups.
- Links: Normal Development - Milk | MedlinePlus - Galactosemia
Meconium Peritonitis
A condition caused by intra-uterine intestinal perforation leading to a sterile inflammatory reaction of the peritoneum.
Additional Information
Abnormalities and Development
- How these abnormalities may be generated in development.
- When they first occur.
- How can we detect these abnormalites.
- Do the abnormalites have a direct or indirect effect on the GIT.
- How serious to the embryo, fetus, newborn, child and adult are these conditions.
- What therapeutics are available for these conditions.
ICD10 Other congenital malformations of the digestive system (Q38-Q45)
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XVII Congenital Malformations - Other congenital malformations of the digestive system (Q38-Q45)
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Q38 Other congenital malformations of tongue, mouth and pharynx
Excl.: macrostomia (Q18.4) microstomia (Q18.5)
- Q38.0 Congenital malformations of lips, not elsewhere classified Congenital: fistula of lip malformation of lip NOS Van der Woude's syndrome Excl.: cleft lip (Q36.-) cleft lip with cleft palate (Q37.-) macrocheilia (Q18.6) microcheilia (Q18.7)
- Q38.1 Ankyloglossia Tongue tie
- Q38.2 Macroglossia
- Q38.3 Other congenital malformations of tongue Aglossia Bifid tongue Congenital: adhesion fissure malformation NOS of tongue Hypoglossia Hypoplasia of tongue Microglossia
- Q38.4 Congenital malformations of salivary glands and ducts Absence Accessory Atresia (of) salivary gland or duct Congenital fistula of salivary gland
- Q38.5 Congenital malformations of palate, not elsewhere classified Absence of uvula Congenital malformation of palate NOS High arched palate Excl.: cleft palate (Q35.-) cleft palate with cleft lip (Q37.-)
- Q38.6 Other congenital malformations of mouth Congenital malformation of mouth NOS
- Q38.7 Pharyngeal pouch Diverticulum of pharynx Excl.: pharyngeal pouch syndrome (D82.1)
- Q38.8 Other congenital malformations of pharynx Congenital malformation of pharynx NOS
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Q39 Congenital malformations of oesophagus
- Q39.0 Atresia of oesophagus without fistula Atresia of oesophagus NOS
- Q39.1 Atresia of oesophagus with tracheo-oesophageal fistula Atresia of oesophagus with broncho-oesophageal fistula
- Q39.2 Congenital tracheo-oesophageal fistula without atresia Congenital tracheo-oesophageal fistula NOS
- Q39.3 Congenital stenosis and stricture of oesophagus
- Q39.4 Oesophageal web
- Q39.5 Congenital dilatation of oesophagus
- Q39.6 Diverticulum of oesophagus Oesophageal pouch
- Q39.8 Other congenital malformations of oesophagus Absent Congenital displacement Duplication (of) oesophagus
- Q39.9 Congenital malformation of oesophagus, unspecified
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Q40 Other congenital malformations of upper alimentary tract
- Q40.0 Congenital hypertrophic pyloric stenosis Congenital or infantile: constriction hypertrophy spasm stenosis stricture of pylorus
- Q40.1 Congenital hiatus hernia Displacement of cardia through oesophageal hiatus Excl.: congenital diaphragmatic hernia (Q79.0)
- Q40.2 Other specified congenital malformations of stomach Congenital: displacement of stomach diverticulum of stomach hourglass stomach Duplication of stomach Megalogastria Microgastria
- Q40.3 Congenital malformation of stomach, unspecified
- Q40.8 Other specified congenital malformations of upper alimentary tract
- Q40.9 Congenital malformation of upper alimentary tract, unspecified Congenital: anomaly deformity NOS of upper alimentary tract
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Q41 Congenital absence, atresia and stenosis of small intestine
Incl.: congenital obstruction, occlusion and stricture of small intestine or intestine NOS Excl.: meconium ileus (E84.1)
- Q41.0 Congenital absence, atresia and stenosis of duodenum
- Q41.1 Congenital absence, atresia and stenosis of jejunum Apple peel syndrome Imperforate jejunum
- Q41.2 Congenital absence, atresia and stenosis of ileum
- Q41.8 Congenital absence, atresia and stenosis of other specified parts of small intestine
- Q41.9 Congenital absence, atresia and stenosis of small intestine, part unspecified Congenital absence, atresia and stenosis of intestine NOS
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Q42 Congenital absence, atresia and stenosis of large intestine
Incl.: congenital obstruction, occlusion and stricture of large intestine
- Q42.0 Congenital absence, atresia and stenosis of rectum with fistula
- Q42.1 Congenital absence, atresia and stenosis of rectum without fistula Imperforate rectum
- Q42.2 Congenital absence, atresia and stenosis of anus with fistula
- Q42.3 Congenital absence, atresia and stenosis of anus without fistula Imperforate anus
- Q42.8 Congenital absence, atresia and stenosis of other parts of large intestine
- Q42.9 Congenital absence, atresia and stenosis of large intestine, part unspecified
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Q43 Other congenital malformations of intestine
- Q43.0 Meckel's diverticulum Persistent: omphalomesenteric duct vitelline duct
- Q43.1 Hirschsprung's disease Aganglionosis Congenital (aganglionic) megacolon
- Q43.2 Other congenital functional disorders of colon Congenital dilatation of colon
- Q43.3 Congenital malformations of intestinal fixation Congenital adhesions [bands]: omental, anomalous peritoneal Jackson's membrane Malrotation of colon Rotation: failure of incomplete insufficient of caecum and colon Universal mesentery
- Q43.4 Duplication of intestine
- Q43.5 Ectopic anus
- Q43.6 Congenital fistula of rectum and anus Excl.: congenital fistula: rectovaginal (Q52.2) urethrorectal (Q64.7) pilonidal fistula or sinus (L05.-) with absence, atresia and stenosis (Q42.0,Q42.2)
- Q43.7 Persistent cloaca Cloaca NOS
- Q43.8 Other specified congenital malformations of intestine Congenital: blind loop syndrome diverticulitis, colon diverticulum, intestine Dolichocolon Megaloappendix Megaloduodenum Microcolon Transposition of: appendix colon intestine
- Q43.9 Congenital malformation of intestine, unspecified
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Q44 Congenital malformations of gallbladder, bile ducts and liver
- Q44.0 Agenesis, aplasia and hypoplasia of gallbladder Congenital absence of gallbladder
- Q44.1 Other congenital malformations of gallbladder Congenital malformation of gallbladder NOS Intrahepatic gallbladder
- Q44.2 Atresia of bile ducts
- Q44.3 Congenital stenosis and stricture of bile ducts
- Q44.4 Choledochal cyst
- Q44.5 Other congenital malformations of bile ducts Accessory hepatic duct Congenital malformation of bile duct NOS Duplication: biliary duct cystic duct
- Q44.6 Cystic disease of liver Fibrocystic disease of liver
- Q44.7 Other congenital malformations of liver Accessory liver Alagille's syndrome Congenital: absence of liver hepatomegaly malformation of liver NOS
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Q45 Other congenital malformations of digestive system
Excl.: congenital: diaphragmatic hernia (Q79.0) hiatus hernia (Q40.1)
- Q45.0 Agenesis, aplasia and hypoplasia of pancreas Congenital absence of pancreas
- Q45.1 Annular pancreas
- Q45.2 Congenital pancreatic cyst
- Q45.3 Other congenital malformations of pancreas and pancreatic duct Accessory pancreas Congenital malformation of pancreas or pancreatic duct NOS Excl.: diabetes mellitus: congenital (E10.-) neonatal (P70.2) fibrocystic disease of pancreas (E84.-)
- Q45.8 Other specified congenital malformations of digestive system Absence (complete)(partial) of alimentary tract NOS Duplication Malposition, congenital of digestive organs NOS
- Q45.9 Congenital malformation of digestive system, unspecified Congenital: anomaly deformity NOS of digestive system
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World Health Organisation. International Statistical Classification of Diseases and Related Health Problems. (1992) 10th Revision (ICD-10). Geneva: WHO ICD-10 - 2016 Online (English)
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Links: Gastrointestinal Abnormalities
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ICD10 - Gastrointestinal | Genital | Renal | Integumentary
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Australian Statistics - GIT (1981 - 1992).
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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.
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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.
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USA Statistics - CDC National estimates for selected GIT related major birth defects (2004–2006).
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Birth Defects
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Cases per Births (1 in ...)
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Estimated Annual Number of Cases
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Cleft palate without cleft lip
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1,574
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2,651
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Cleft lip with and without cleft palate
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940
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4,437
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Esophageal atresia/tracheoesophageal fistula
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4,608
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905
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Rectal and large intestinal atresia/stenosis
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2,138
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1,952
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Gastroschisis
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2,229
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1,871
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Omphalocele
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5,386
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775
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Diaphragmatic hernia
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3,836
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1,088
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Trisomy 21 (Down syndrome)
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691
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6,037
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References
- ↑ <pubmed>718292</pubmed>
- ↑ <pubmed>17230493</pubmed>
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Cite this page: Hill, M.A. (2024, April 27) Embryology BGDB Gastrointestinal - Abnormalities. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/BGDB_Gastrointestinal_-_Abnormalities
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