Dysmorphology

This morning I went to a seminar entitled Introduction to Dysmorphology. It seemed very familiar, and then I remembered that Dr. Manning briefly went over some of the information in the previous lecture of hers that I attended.

A dysmorphic feature can be a normal structure that is abnormally sized, proportioned, or shaped, or it can be a feature not normally present. It can be a major or minor anomaly (minor, meaning not interfering with health or cosmetically unusual/dangerous). An isolated anomaly can be in one of three categories. A malformation arises from an intrinsically normal developmental process, and is more likely to be genetic, like a congenital heart defect. A deformation arises from mechanical forces on an otherwise normally formed structure, like clubbed feet. A disruption is the destruction or interruption of intrinsically normal tissue, such as fewer fingers than normal.

Anomalies can originate as associations, sequences, or syndromes. An association is a nonrandom occurence of multiple anomalies that cannot be explained by chance alone. The cause of the anomalies is not known. It is "promoted" to a sequence or syndrome if the cause is known. A sequence is a series of anomalies due to a single problem in morphogenesis (growth/development), that leads to a cascade of subsequent events. A chain reaction, basically. A syndrome is a recognizable, recurring pattern of multiple anomalies, in which all cases are due to a single, identifiable etiology.

Apparently these terms are thrown around somewhat interchangeably in the industry, so it was nice to have clarification. I like organizing and putting things into categories because it makes for good notes, so this was my kind of presentation. At lunch I went to another talk about VLCAD, which is a fatty acid oxidation syndrome. It was interesting to hear about the different cases, and even more interesting to see a male genetic counselor! This is the first time I've ever met one (I write as if they're endangered wild animals. Well, they ARE rare...)

An eventful day so far, and now to keep plugging away at the process notes, some of which read like three act plays. Stay tuned!