A 9-month-old boy with Aarskog syndrome is described. Eleven cases of this syndrome were collected from the Japanese literature and reviewed. The most characteristic findings are short stature, craniofacial anomalies such as hypertelorism and broad nasal bridge, hand and foot anomalies, and shawl scrotum. If the pediatrician is familiar with these anomalies, especially short stature and shawl scrotum, more cases will be found.