Human Development - Normal and Abnormal


Where once a physician could only describe a normal timetable of events, common malformations and perhaps a few critical developmental periods, they must now be prepared to make links between developmental events, a patient’s genetic profile, and possible environmental influences. Physicians must also be prepared to update their own knowledge as new genetic and surgical procedures are introduced and developmental mechanisms are described. 


Graduates should be able to explain relevant aspects of normal and abnormal development to patients in a clear and empathetic manner. UPSOM students acquire a fundamental understanding of human development, developmental genetics, and environmental associations.

These topics are introduced in a longitudinal progression through the 1st and 2nd year courses, and are also addressed in clinical clerkships.


Medical Anatomy

During Medical Anatomy, students learn about the embryology and normal development of major organs in conjunction with their study of organ anatomy. They are introduced to selected growth factors and transcription factors involved in early body patterning, major congenital malformations, and recognized genetic associations.


This course introduces cellular and molecular aspects of growth factor signaling, including how these influence development.

Human Genetics

Through lectures, team-based learning sessions, and workshop, students learn about fundamental aspects of the genetic basis for normal and abnormal development. Development-related topics include chromosome disorders; the regulation of gene expression; prenatal genetic testing and diagnosis; stem cells and gene therapy; sex determination; newborn screening; Down syndrome; and Duchenne muscular dystrophy.


This first-year organ system course introduces core aspects of normal brain development, major malformations, disrupted cellular events that may underlie abnormal brain development, and cerebral palsy. Case-based instruction sessions lead students to explore developmental milestones.

Introduction to Psychiatry

This first-year course includes instruction about common developmental disorders (autism, and language and learning disorders).

BFH - Cardiology, Renal, and Pulmonary

The physiologic outcomes of heart, urinary tract and respiratory malformations and possible repair are addressed. Congenital heart disease is examined in greater depth, from the perspectives of embryology, pathophysiology, and clinical medicine.

Digestion and Nutrition

During this second-year course, students learn about the embryology and physiologic outcomes of malformations of the gut and pancreas.


This course traces bone marrow development from fetus to aged adult and discusses lineage of hematopoietic cells from stem cell to lineage maturity in the peripheral blood, thymus, spleen, and bone marrow.

Endocrine Disorders

Endocrine disorders that are genetically-based are covered in this organ system course.

Reproductive and Developmental Biology

This course builds upon prior material as it presents a clinically-oriented approach to the study of human development. Development-related topics include: the ovarian cycle, fertilization and pregnancy maintenance and pharmacology, pre-implantation development, implantation and placentation, teratology, contraception, parturition, parturition, neonatal transitions, growth abnormalities, monitoring growth and development (neonate, childhood, adolescence), early neurological development, sexual development, menopause and aging.

Advanced Physical Examination

During the pediatric sessions of this first-second year course, students hone their skills in examination of children. This course provides a key opportunity for students to learn about developmental milestones and abnormalities through history taking and physical examination of infants and children.

Advanced Medical Interviewing

Among the standardized patient cases in this second year course is an opportunity for students to learn about the issues faced by someone with a childhood intellectual disability transitioning from pediatric to adult care. 

Pediatric Inpatient Medicine Clerkship

Early in this clerkship, students participate in a classroom session on normal childhood development. Students then apply this background information during extended encounters with admitted patients and their parents. These encounters provide key opportunities to conduct in-depth developmental assessments, and to solidify understanding of the normal developmental milestones across all age groups. Students are able to observe how parents interact with their children, both verbally and nonverbally, and to gain an understanding of the social and environmental factors in the life of the child’s family. These observations help students gain insight into how these interactions and influences affect a child’s developmental progress.

Family Medicine Clerkship

Early in this clerkship, students learn about prenatal development as part of a lecture on maternity care and genetics. Students apply and grow their knowledge of developmental milestones and lifelong development through their evaluations of patients at every stage of life, from newborns to older adult patients.

Psychiatry Clerkship

All students on this clerkship explore how developmental stage affects assessment, learning to adapt interviewing techniques for patients of different ages/types. Much of this is done during required didactic sessions, including a workshop on psychiatric assessment, and a case-based session on child psychiatry. All students also have clinical exposure to child/adolescent and neurodevelopmental cases, where they evaluate psychopathology through the lens of development—developmental milestones, psychosocial development, and defenses/coping. In addition, over a quarter of students spend all five weeks of the Psychiatry clerkship working primarily with the child/adolescent population.

Specialty Care Clerkship

Within one of the ophthalmology case conferences, students discuss amblyopia and its relationship to early visual development.

Obstetrics and Gynecology Clerkship

All students participate in a problem-based learning session addressing pre-conception counseling with an emphasis on sickle cell disease and pre-gestational insulin dependent diabetes, both of which can lead to abnormal fetal development. Students also learn how to date a pregnancy and determine gestational age based on fetal developmental findings.  During the ambulatory portion of the clerkship students an opportunity to learn about the use of ultrasound to monitor fetal growth and diagnose anomalies, and learn about how to use common genetic tests to screen for Down syndrome.

Surgery and Perioperative Care Clerkship

In this clerkship, students may request or be assigned to a rotation in Pediatric Surgery. Students on this rotation will encounter patients with congenital abnormalities that are the result of abnormal fetal development (for example, omphalocele, gastrochisis, tracheoesophageal fistula). By participating in the evaluation and possible surgical treatment of these patients, students learn about the origin, pathophysiology, and impact of these conditions.