Dysmorphology — study of congenital malformations, changing the form of one or more body parts of a newborn. The research objectives of the physician-dysmorphology — understand the contributions of abnormal genes and non-genetic environmental factors in the development of birth defects.
The clinical goals doctor dysmorphology to identify a child with a birth defect and suggest further diagnostic tests to provide prognostic information about possible outcomes, develop a plan for the treatment and prevention of expected complications, to ensure family understanding of causes of disease development and to assess the risk of recurrence to parents and other relatives.
To achieve these diverse goals, the Clinician needs to collect and analyze information from the patient, family history, and published clinical and scientific literature data. Dysmorphology work closely with specialists in pediatric surgery, neurology, rehabilitation and related health professions to ensure the long term monitoring of children with birth defects.
Malformations, deformations and disruptive in dysmorphology divided congenital malformations into three main categories: malformation, deformation and disruption. We illustrate the distinction between these three categories on three different examples of congenital defects affecting the limbs. Malformations are due to considerable anomalies in one or more genetic programs involved in development. An example of a defect is the formation of additional fingers with the disease known as cephalopolysyndactyly Greig.
Cephalopolysyndactyly Greig caused by a mutation in the gene of the transcription factor GLI3, one of the components of a complex network of interacting transcription factors and signal molecules, which causes the distal end of the upper limb buds develop in the brush with five fingers. Because the malformations caused by significant defects in the genes that determine a series of evolutionary steps or programs, because such programs are often used repeatedly in other parts or at other stages of embryonic development, malformation in one part of the body is often, though not always, associated with malformation somewhere else.