Dysmorphology

Dysmorphology is the study of abnormal form in the human body. This relates to anatomy of patients who may have genetic and congenital birth defects. The pediatrician, endocrinologist, embryologist, and clinical geneticist, Dr. David Smith, first began this area of interdisciplinary study of medicine in the 1960s. At this time, clinical genetics were at their infancy. The study of dysmorphology involves observation and assessment of patients, the understanding of intricacies in the genetic disorder, and any relevant treatment measures available. When a physician confronts the patient and family issues relating to morphological birth defects and their [Page 570]genetic components, that physician is taking on the role of dysmorphologist.

In the developing world, a myriad of congenital birth defects remain underdiagnosed, poorly treated, and misunderstood. The social stigma, isolation, and lack of adaptation can lead to a loss of quality of life. A physician acting as dysmorphologist is able to identify these risks for defects and offer clinical support to the patient and family. The lack of access to this treatment and assessment in least developed nations throughout the world leads to patient suffering.

For example, the level of care that is expected for such assessments when the index of suspicion is high for any dysmorphology include nutrition; basic lifestyle and occupation and work details; medical, obstetric, and drug histories; if possible, genetic and biochemical data collection (difficult in the developing world); and overall assessment of clinical dysmorphology with a family history. Also, assessing a person's body proportion (the length of the arms and legs relative to the trunk) may provide information for further examination.

With a prolonged birth and breech presentation, congenital dislocation of the hip, clubfeet, and a flattened, elongated “breech head” can result. These morphological abnormalities are usually benign and can be corrected. However, a simple obstructed urethra causing a deficient volume of amniotic fluid leads to flattened facial features and fixed joints.

One minor malformation in the patient should not cause major concern, particularly if the feature is shared with a parent and does not affect daily life. As outlined by many clinical genetics protocols, three or more malformations, especially if associated with short stature, failure to thrive, a slower developed head and brain, or other developmental delay, should bring about further investigation in the newborn or infant. Much of these needs cannot be met in the developing world.

For example, abnormalities of the spine can be major malformations that are readily apparent at birth but poorly treated in developing nations. Some specific examples that plague developing countries without access to prenatal care as in the case of Africa and Asia are anencephaly (absent skull and brain), encephalocele (cranial defect with brain coming out into external sac), and spina bifida. All of the above dysmorphological disorders result in death to the child.