Cornelia de Lange syndrome

Cornelia de Lange Syndrome (CdLS) often termed as Bushy Syndrome and also known as Amsterdam dwarfism, is a genetic disorder that can lead to severe developmental anomalies. It affects the physical and intellectual development of a child. Exact incidence is unknown, but it is estimated at 1 in 10,000 to 30,000. The vast majority of cases are due to spontaneous mutations. It can be associated with mutations affecting the cohesin complex. Multiple genes have been associated with the condition: The latter two genes seem to correlate with a milder form of the syndrome. Evidence of a linkage at chromosome 3q26.3 is mixed. The first ever documented case was in 1916 by W. Brachmann followed up by Cornelia de Lange, a Dutch pediatrician, in...