Background: Cornelia de Lange syndrome (CDLS) is a rare multiple congenital anomaly syndrome characterized by a distinctive facial appearance, developmental delay, growth retardation, low birth weight, skeletal formation anomaly, and hirsutism.
Case: Here for the first time a case of CDLS from Iran, a 15-week-old male infant who was refereed as a case of multiple congenital anomalies. Clinical investigation showed that the child was a case of CDLS.
Conclusion: This is the first case report with CDLS in Iran.
Keywords: Cornelia de lange syndrome; Synophrys; distinctive facial features; long philtrum; malformation of upper limbs.