Cornelia De Lange Syndrome – Case Report

Cornelia de Lange syndrome (CdLS) is a complex genetic disorder characterized by distinctive facial features, delayed growth, and limb abnormalities. In 1916, Dr. W. Brachmann described the first case of this syndrome but in 1933 Cornelia de Lange, a Dutch pediatrician from Amsterdam was the first to report about two cases of this syndrome. It is also called Brachmann de Lange syndrome, Amsterdam dwarfism, Bushy syndrome. Craniofacial features commonly associated with CdLS include synophrys (joined eyebrows), arched eyebrows, long eyelashes, and microcephaly. The exact incidence is uncertain, but it is estimated to be 1 in 10,000 individuals, with no racial predilection. While most cases occur sporadically, familial transmission with an autosomal dominant inheritance pattern has been documented. A case of an 8-year-old girl with CdLS, exhibiting the typical facial and physical features of the syndrome, is reported herewith.