Cleft hand in Kabuki make-up syndrome: case report.

[kabuki syndrome]

Kabuki make-up syndrome (KMS ) is a multiple malformation /mental retardation syndrome that was first described in Japan but is now reported in many other ethnic groups . Kabuki make-up syndrome is characterized by multiple congenital abnormalities : craniofacial , skeletal , and dermatoglyphic abnormalities ; mental retardation ; and short stature . Common hand anomalies associated with KMS include persistent fingertip pad , brachydactyly , clinodactyly , and lax joints . We report a patient with KMS who presented with cleft hand , a feature that has not yet been described in KMS , and describe the potential genetic cause .