UNSW Embryology

Beginnings, Growth and Development

© Dr Mark Hill (2009)

Acknowledgements

Laboratory GIT - Abnormalities

Introduction

This current page contains information for the GIT Practical about some GIT abnormalities. The table shows the contribution of major GITabnormalities to Australian birth statistics by system. This information is for students who have time within the class or you can study this later in your own time. A more comprehensive description of abnormalities can be found at GIT Notes - Abnormal Development.

Think about Abnormalities

• 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.

GIT Abnormalities

Here are the names of some GIT Abnormalites. Search the OMIM database (below) or other resources using these terms.

Atresia and Stenosis

The GIT can be considered as a simple tube or pipe, anything which blocks the tube (at different levels) can have different effects.

• Esophageal Atresia
• Duodenal Atresia and Stenosis
• Pyloric Stenosis
• Extrahepatic Biliary Atresia
• Anorectal Atresia

Persistent Vitelline Duct - Meckel's Diverticulum

Abnormal Gut Rotation - Midgut Volvulus, Situs Inversus

Duplication of tract

Organ Abnormalities

Extrahepatic Biliary Atresia, Accessory Pancreatic Tissue, Anular Pancreas, Accessory Spleen

Motility Disorders

Hirschprung's disease - abnormalities of neural crest migration.

Abdominal Wall Defects - gastroschisis

Online Mendelian Inheritance in Man

This database is probably a bit advanced to use at this stage, but as your knowledge grows, should be an ongoing invaluable resource to give a medical "snapshot" of a genetic disorder or topic.

Try a search of the database with a keyword from this current practical or a specific genetic disease.

OMIM

Next

Link to First page in this GIT Practical - GIT More GIT Notes - Abnormal Development

Glossary

Use the alphabetical list below to find definitions of terms that are new to you or use the Google search window to search UNSW Embryology site.

Terms

cleft lip - An abnormality of face development leading to an opening in the upper lip. 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. (More? Face - Abnormalities | Face Notes | | Head Notes | Medline Plus - Cleft Lip and Palate)

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. 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. (More? Face - Abnormalities | Face Notes | | Head Notes | Medline Plus - Cleft Lip and Palate)

galactosemia - An enzyme deficiency disorder. The enzyme galactose-1-phosphate uridyl transferase metabolizes galactose in milk sugar. (More? Prenatal Diagnosis | Neonatal Screening | MedlinePlus - Galactosemia)

gastroschisis - developmental abnormality, which occurs as an abdominal wall defect associated with evisceration of the intestine. (More? GIT Abnormalities | Feldkamp ML, Carey JC, Sadler TW. Development of gastroschisis: Review of hypotheses, a novel hypothesis, and implications for research. Am J Med Genet A. 2007 Jan 17)

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