Medical Genetics and Dysmorphology

Table of Contents

1. Medical Genetics and Dysmorphology
2. Dysmorphology
3. Quick Check
4. Chromosomal Abnormalities
5. Traditional Mendelian Inheritance Patterns
6. Nontraditional Mendelian Inheritance Patterns
7. Inborn Errors of Metabolism
8. Teratogens
9. Prenatal Diagnosis
10. Quick Check
11. Newborn Screening
12. Resources and References

Medical Genetics and Dysmorphology

Neena Champaigne, MD

Medical genetics is a broad discipline that encompasses several fields and involves the general application of genetics to medicine.

Clinical genetics has a more narrow focus with a particular emphasis on the diagnosis and management of individuals with genetic conditions. Accurate diagnosis and recognition of genetic conditions provides direction for medical management, information about prognosis and it allows for genetic counseling of families regarding recurrence risks and availability of prenatal diagnosis for future pregnancies.

Because medical genetics is a rapidly evolving field, with new discoveries occurring daily, it is difficult to keep up-to-date. In this chapter, you will find basic principles to enhance your understanding. In addition, you will find numerous online resources that are available to expand your knowledge.

[editors' note: please report any broken links to the Core Concepts editors.]

Online References useful throughout this document are these:

Genetics Home Reference - Your Guide to Understanding Genetic Conditions

Gene Tests from www.genetest.org

OMIM - Online Mendelian Inheritance in Man: Online Mendelian Inheritance in Man, OMIM (TM). McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD), 2000.