Cornelia de Lange syndrome
a genetic disorder characterized by slow growth before and after birth, intellectual disability, skeletal abnormalities involving the arms and hands, microcephaly, short stature, and distinctive facial features (e.g., thin eyebrows that meet in the middle; long eyelashes; small, widely spaced teeth; a small, upturned nose). Mutations in the NIPBL, SMC1A, and SMC3 genes can cause the syndrome, with NIPBL the most common cause, accounting for 50% of cases. SMC1A and SMC3 gene mutations tend to cause milder symptoms than those seen in NIPBL mutations but are less common. In a third of cases of the disorder, the cause is unknown. Also called Amsterdam dwarf disease; Brachmann–de Lange syndrome; de Lange syndrome. [Cornelia de Lange (1871–1950), Dutch pediatrician]