Cornelia de Lange syndrome (CdLS) is rarely seen syndrome with incidence between 1/10,000 and 1/ 60,000 neonates. It is characterized by typical facial features, besides involving multiple systems. We present here a case of 5 year old male child with typical facial features of CdLS like bushy eyebrows that meet in midline, long eye lashes, long philtrum, thin upper lip, depressed nasal bridge and anteverted nostrils. The patient was diagnosed as having Cornelia de Lange syndrome as he has distinctive facial features in addition to the pre- and postnatal growth retardation, hirsutism and speech delay. He has been followed up by interdisciplinary care team.

Keywords: Cornelia De Lange Syndrome; Incidence; Typical Facial Features; Brachman De Lange Syndrome; Classical CdLS; Mild CdLS; Phenocopy CdLS.