Filippi syndrome is an autosomal recessive condition characterized by varia
ble soft tissue syndactyly of the fingers and toes, microcephaly, pre- and
postnatal growth retardation, mildly abnormal craniofacial appearance, and
mental retardation. We report on three unrelated individuals with Filippi s
yndrome. All have microcephaly, minor facial anomalies, variable syndactyly
of digits, growth impairment, and developmental delay. One patient also ha
s polydactyly, which has not been reported previously in the Filippi syndro
me. (C) 1999 Wiley-Liss, Inc.