A "community" of face-limb malformation syndromes

A boy with faciodigital malformations is reported who bears a striking resemblance to Charlie M, a patient described by Gorlin as representing a new syndrome, and to two other previously reported patients. One may interpret this as supporting the validity of the "Charlie M" syndrome as a nosologic entity. However, these patients share a number of features with several other face-limb malformation syndromes. We suggest that these syndromes form a "community," in which the overlapping phenotypes of the member syndromes reflect underlying developmental relationships.