Define Dysmorphology

  • Define Dysmorphology

Dysmorphology is the study of anomalies or congenital structural malformations commonly known as birth defects. Coined by David W. Smith in the 1960s, Dysmorphology is dedicated to uncovering the pathogenesis of human birth defects.

  • Compare and Contrast the terms major and minor anomalies

Major anomalies are structural anomalies that have substantial social, cosmetic or medical life-threatening consequences for an individual with Congenital anomalies and require surgical or medical intervention. Examples of major anomalies include spina bifida and cleft lip. Minor anomalies, on the other hand, are structural defects that deviates from the normal standard and have no significant medical, surgical or cosmetic importance (Adam & Hudgins, 2003). Classifying a physical defect as either minor or major is important in that both have different implications for the affected individuals.

  • Identify one congenital anomaly and the syndrome/disease most associated with that anomaly

 One congenital anomaly is the Down syndrome which is a condition where a person has an extra chromosome. Chromosomes determine how the body of a baby forms during pregnancy and babies are born with 46 chromosomes. Babies with Down syndrome, however, are born with an extra chromosome referred to as chromosome 21(Bergstro et al., 2016). This extra chromosome affects how the brain and body develop and can lead to physical or mental challenges. The most common disease associated with Down syndrome is the congenital heart disease which can cause high blood pressure in the lungs or inability of the heart to efficiently and effectively pump blood leading to cyanosis.

State one specific area of teaching that should be included in caring for this individual/family

One specific area that should be included in caring for individuals with Down syndrome is individual personalities. Children with Down syndrome are different and have physical and emotional needs similar to other children. They should thus be recognized as having unique personalities just like other people.




Adam, M., & Hudgins, L. (2003). The Importance of Minor Anomalies in the Evaluation of the Newborn. Neoreviews4(4), 99e-104. doi: 10.1542/neo.4-4-e99

Bergstro m, S., Carr, H., Petersson, G., Stephansson, O., Bonamy, A., & Dahlstro m, A. et al. (2016). Trends in Congenital Heart Defects in Infants With Down Syndrome. PEDIATRICS138(1), e20160123-e20160123. doi: 10.1542/peds.2016-0123