Definition: A syndrome characterized by growth retardation, severe MENTAL RETARDATION, short stature, a low-pitched growling cry, brachycephaly, low-set ears, webbed neck, carp mouth, depressed nasal bridge, bushy eyebrows meeting at the midline, hirsutism, and malformations of the hands. The condition may occur sporadically or be associated with an autosomal dominant pattern of inheritance or duplication of the long arm of chromosome 3. (Menkes, Textbook of Child Neurology, 5th ed, p231)
Other names Cornelia De Lange Syndrome; Brachmann-De Lange Syndrome; Syndrome, De Lange's; Syndrome, De Lange; Syndrome, Brachmann-De Lange; Cornelia de Lange Syndrome, X Linked; Brachmann De Lange Syndrome; Amstelodamensis, Typus Degenerativus; Typus Degenerativus Amstelodamensis; De Lange's Syndrome; Cornelia de Lange Syndrome, X-Linked; Cornelia de Lange Syndrome 3; Cornelia de Lange Syndrome 2; Cornelia de Lange Syndrome 1
