Townes syndrome. A distinct multiple malformation syndrome resembling VACTERL association

An 8-year-old male is presented with clinical findings of Townes syndrome in an otherwise unaffected family. Additional abnormalities possibly representing low frequency associations of this autosomal dominant multiple malformation syndrome included a cardiac defect and hypospadias. Similarities exist between Townes syndrome and VACTERL association, which is generally regarded to be sporadic in nature. Recognition of Townes syndrome as a distinct entity is critical for implementing appropriate management in early childhood, including amplification of hearing impairments. Variable expressivity may occur in this disorder. Careful evaluation must be made, therefore, of the parents of an affected infant with an apparent sporadic case, in order to provide the couple with an accurate recurrence risk at genetic counseling.