Curriculum Competencies and Objectives

PREFACE | PROFESSIONAL CONDUCT AND ATTITUDES | SKILLS | HEALTH SUPERVISION | GROWTH | DEVELOPMENT | BEHAVIOR | NUTRITION | PREVENTION |ISSUES UNIQUE TO ADOLESCENCE | ISSUES UNIQUE TO THE NEWBORN | MEDICAL GENETICS AND DYSMORPHOLOGY | COMMON ACUTE PEDIATIC ILLNESS | COMMON CHRONIC ILLNESS AND DISABILITY | THERAPEUTICS | FLUID AND ELECTROLYTE MANAGEMENT | POISONING | PEDIATRIC EMERGENCIES | CHILD ABUSE | CHILD ADVOCACY | COMMON PEDIATRIC ILLNESS TABLE | CLINICAL ENCOUNTER TABLE | DIAGNOSIS LIST | CURRICULUM DEVELOPMENT PARTICIPANTS

MEDICAL GENETICS AND DYSMORPHOLOGY

Rationale
Prerequisites
Competencies

Rationale

A physician should be able to distinguish between congenital disorders (disorders present at birth) that are genetic from those that are non-genetic, as well as recognize common genetic diseases presenting later in childhood. Genetic abnormalities may produce congenital malformations, metabolic disturbances, specific organ dysfunction, abnormal growth patterns, and abnormalities of sexual differentiation. New technology and knowledge of genetics have raised ethical questions that physicians and society will need to address.

Prerequisites

• Knowledge of gene structure, regulation and function
• Basic knowledge of the Human Genome Project and the role of genetic inheritance in multifactorial diseases, such as cancer, heart disease and diabetes
• Basic mechanisms of Mendelian inheritance, multifactorial inheritance, the "carrier" state, incomplete penetrance, variable expression, and spontaneous mutations.
• Basic embryology and teratology
• Introductory history taking and physical examination skills

Competencies

Knowledge

1. Describe the genetic basis and clinical manifestations of the following syndromes, malformations, and associations:
   
   
   • Common chromosomal abnormalities, (e.g. Trisomy 21 (CP), Turner syndrome (CP), Klinefelter syndrome (M)
   • Syndromes due to teratogens (e.g. fetal alcohol syndrome) (CP)
   • Other common genetic disorders (e.g. cystic fibrosis, sickle cell disease, hemophilia) (CP)
   • Single malformations with multifactorial etiology (e.g. spina bifida, congenital heart disease, cleft lip and palate)(M)
     
     
2. List common medical and metabolic disorders (e.g. hearing loss, hypothyroidism, PKU, hemoglobinopathies) detected through newborn screening programs. (CP)
3. Discuss the effects of maternal health and potentially teratogenic agents on the fetus and child, including maternal diabetes and age (CP), alcohol use (CP) illicit drug use (CP), and prescribed medications such as phenytoin, valproate, and retinoic acid (M)
4. List common prenatal diagnostic assessments (e.g. maternal serum screening, amniocentesis, and ultrasonography) and understand their use (M)
5. Describe the use of chromosome studies in the diagnosis of genetic disorders (M)
6. Discuss the role of genetics in common multifactorial conditions (e.g. inflammatory bowel disease, pyloric stenosis, congenital heart disease, cleft lip, diabetes and cancer) (M)

Skills

1. Use a family history to construct a pedigree (e.g., for the evaluation of a possible genetic disorder). (CP)

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