BGDB Gastrointestinal - Abnormalities: Difference between revisions
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A condition caused by intra-uterine intestinal perforation leading to a sterile inflammatory reaction of the peritoneum. | A condition caused by intra-uterine intestinal perforation leading to a sterile inflammatory reaction of the peritoneum. | ||
==Metabolic Disorders== | |||
[[File:Guthrie_card.jpg|thumb|[[Guthrie card]]]] | |||
Galactosaemia - 1 in 40,000 births (about 1-3 cases per year). 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 is life saving. | |||
Rarer metabolic disorders - Some fatty acid, organic acid and other amino acid defects can now be detected using Tandem Mass Spectrometry. These much rarer metabolic disorders affect about 15 – 18 babies per year. Early detection is important as diet and medications can treat most of these disorders. Without appropriate management they can cause severe disability or death. | |||
==Additional Information== | ==Additional Information== |
Revision as of 16:32, 4 May 2013
Practical 1: Trilaminar Embryo | Early Embryo | Late Embryo | Fetal | Postnatal | Abnormalities | Lecture | Quiz |
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.
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
Midgut Volvulus, Situs Inversus
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
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.
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.
Meconium Peritonitis
A condition caused by intra-uterine intestinal perforation leading to a sterile inflammatory reaction of the peritoneum.
Metabolic Disorders
Galactosaemia - 1 in 40,000 births (about 1-3 cases per year). 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 is life saving. Rarer metabolic disorders - Some fatty acid, organic acid and other amino acid defects can now be detected using Tandem Mass Spectrometry. These much rarer metabolic disorders affect about 15 – 18 babies per year. Early detection is important as diet and medications can treat most of these disorders. Without appropriate management they can cause severe disability or death.
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) |
Q38 Other congenital malformations of tongue, mouth and pharynx
Excl.: macrostomia (Q18.4) microstomia (Q18.5)
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Q39 Congenital malformations of oesophagus
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Q40 Other congenital malformations 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)
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Q42 Congenital absence, atresia and stenosis of large intestine
Incl.: congenital obstruction, occlusion and stricture of large intestine
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Q43 Other congenital malformations of intestine
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Q44 Congenital malformations of gallbladder, bile ducts and liver
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Q45 Other congenital malformations of digestive system
Excl.: congenital: diaphragmatic hernia (Q79.0) hiatus hernia (Q40.1)
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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) |
Links: Gastrointestinal Abnormalities |
ICD10 - Gastrointestinal | Genital | Renal | Integumentary |
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. | |
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. |
USA Statistics - CDC National estimates for selected GIT related major birth defects (2004–2006). | |||||||||||||||||||||||||||
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References
Practical 1: Trilaminar Embryo | Early Embryo | Late Embryo | Fetal | Postnatal | Abnormalities | Lecture | Quiz |
BGDB: Lecture - Gastrointestinal System | Practical - Gastrointestinal System | Lecture - Face and Ear | Practical - Face and Ear | Lecture - Endocrine | Lecture - Sexual Differentiation | Practical - Sexual Differentiation | Tutorial
Glossary Links
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Cite this page: Hill, M.A. (2024, June 15) Embryology BGDB Gastrointestinal - Abnormalities. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/BGDB_Gastrointestinal_-_Abnormalities
- © Dr Mark Hill 2024, UNSW Embryology ISBN: 978 0 7334 2609 4 - UNSW CRICOS Provider Code No. 00098G