Syndromes of Multiple Congenital Anomalies/Dysplasias
John C. Carey
Rather than memorize the essential findings for all or even most of the multiple congenital anomaly syndromes, it is far more useful for the clinician to develop a strategy for syndrome recognition that is both logical and practical, yet flexible enough to generalize among genetic conditions. Important to this strategy is the availability of information about genetic disorders that is accurate, succinct, and complete. Many texts and online databases provide this information. Moreover, these online resources are becoming increasingly available to families of children with genetic conditions. Consequently parents are frequently very knowledgeable about the diagnosis of a rare condition even before their primary care practitioner has had a chance to discuss it with them. Nevertheless, many of the concepts that are required for total comprehension of the implications of a condition are difficult to grasp. Consequently, the pediatric practitioner must be able to explain the principles of human genetics to different families with varied conditions.
It is beyond the scope of this chapter to provide a comprehensive description of the hundreds of relatively common genetic conditions or the thousands of rare genetic disorders. Thus, Table 176.1 is designed to summarize the main features and inheritance and gene locus/product (if known) of some of the better-known multiple congenital anomaly/dysplasia syndromes not elsewhere covered in this section. The reader is referred to the various genetic texts and online resources that discuss the conditions in more detail.
Table 176-1. Multiple Congenital Anomaly Syndromes