Emergencies associated with genetic syndromes

Congenital malformations Congenital malformations are present in approximately 3% of newborns in the United States. Malformations may occur as isolated conditions, as in the case of a simple cleft lip or palate, or may cluster together in recognizable patterns, or syndromes, such as trisomy 13. Early diagnosis of a specific syndrome provides an explanation for the family, expedites the detection of associated internal anomalies, and facilitates appropriate genetic counseling of the family. For the physician working in the ED, recognition of a syndromic diagnosis is of special importance. Often, presenting symptoms are due to internal manifestations associated with that syndrome, and early identification of such associated problems can be life-saving. Table 10-1 lists some commonly occurring congenital malformation syndromes and the possible conditions with which affected individuals may present to the ED.