Trismus-pseudocamptodactyly syndrome in a Japanese family

A family in which five individuals through three generations were affected with trismus-pseudocamptodactyly syndrome is reported. The propositus, an 8-year-old boy, had a right embedded ear, inability to open the mouth fully, pseudocamptodactyly and soft tissue syndactyly of the toes. His paternal grandmother, father, paternal uncle and his paternal cousin had pseudocamptodactyly. The occurrence of the syndrome in this Japanese family indicates that the syndrome is not exclusively of Dutch origin.