Dysmorphology is the study of congenital anomalies in the anatomical form or body parts of a person or abnormal patterns of development (Beery, Workman, & Eggert, 2018).
Congenital defects are often classified as either major or minor anomalies. Major anomalies are significant and usually require medical attention (Beery et al., 2018). They can have life-threatening ramifications or have a serious cosmetic effect. An example of a major anomaly is a congenital heart defect. A minor anomaly does not have serious functional or cosmetic consequences and may or may not be surgically corrected (Beery et al., 2018). A minor anomaly example is a single palmar crease without any other anomalies.
One congenital anomaly is the mutation of FBN1 causing the connective tissue disorder Marfan syndrome (Pepe, et al., 2016). Marfan syndrome is an autosomal dominant trait that varies in severity (Harris, Croce, & Tian, 2014). Marfan syndrome is often characterized with multiple minor anomalies including a long thin frame with long arms, legs, fingers, and toes. Marfan syndrome is not always recognized at birth or even during childhood. Marfan syndrome is a condition of the connective tissue and can affect many different parts of the body. Manifestations of the condition are most often found in the heart, blood vessels, bones, joints, and eyes. Cardiovascular manifestations are the major clinical focus when managing Marfan patients due to the life threating risks (Pepe, et al., 2016). Aortic aneurysm and dissection are among the major life-threatening manifestations. One important education topic for those affected with Marfan syndrome would be the importance of blood pressure and heart rate control to delay the enlargement of the aorta. Teaching would include the importance of diet, beta blocker therapy, and avoiding strenuous activity. Patients can achieve good long-term outcomes with the proper recognition and treatment of the syndrome.
Beery, T. A., Workman, M. L., Eggert, J. A. (2018). Genetics and Genomics in Nursing and Health Care. Philadelphia, PA. F.A. Davis Company
Harris, C.G., Croce, B., Tian, D.H. (2014). Marfan syndrome. Annals of Cardiothoracic Surgery, 3(4), 437. Doi:10.3978/j/ossm/2225-319X.2014.07.09
Pepe, G., Giusti, B., Sticchi, E., Abbate, R., Gensini, G., & Nistri, S. (2016). Marfan syndrome: Current perspectives. The Application of Clinical Genetics, 55-65. doi:10.2147/tacg.s96233