Genetics, teratology and metabolic disease

Custodian: Dr. Theresa Wu
Reviewer:

ROYAL COLLEGE OBJECTIVES: GENETICS TERATOLOGY AND METABOLIC DISEASE

1. Modes, principles, and molecular basis of Mendelian and non-Mendelian inheritance
2. Embryological basis of malformations, deformations, disruptions, and dysplasias
3. Environmental factors in fetal development; teratogenesis
4. Symptoms and signs
   • Dysmorphic features
5. Conditions
   • Common genetic syndromes
   • Inborn errors of metabolism

USEFUL WEBSITES

1. New England Consortium: https://newenglandconsortium.org/. Contains acute illness protocols for common Inborn Errors of Metabolism
2. Gene Reviews: https://www.ncbi.nlm.nih.gov/books/NBK1116/. Thorough reviews of known genetic conditions. Enter the condition in search bar in the header
3. OMIM: https://www.ncbi.nlm.nih.gov/omim/. A website where you can enter in combinations of dysmorphisms and congenital defects, and data base will give you a list of possible genetic conditions
4. Canadian Pediatric Society position statements: https://www.cps.ca/en/documents/tag/genetics

AMERICAN ACADEMY OF PEDIATRICS HEALTH SUPERVISION GUIDELINES

• Achondroplasia: http://pediatrics.aappublications.org/content/116/…
• Down Syndrome: http://pediatrics.aappublications.org/content/128/…
• Fragile X: http://pediatrics.aappublications.org/content/127/…
• Marfan Syndrome: http://pediatrics.aappublications.org/content/132/…
• Neurofibromatosis: http://pediatrics.aappublications.org/content/121/…
• Prader-Willi Syndrome: http://pediatrics.aappublications.org/content/127/…
• Turner Syndrome: http://pediatrics.aappublications.org/content/111/…
• William Syndrome: http://pediatrics.aappublications.org/content/107/…
• 22q11: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC319782…

LECTURE NOTES AND REVIEW ARTICLES