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Cornelia de Lange Syndrome aka CdLS is a little known genetic disorder that can lead to severe developmental anomalies. It affects both the physical and intellectual development of a child. Exact incidence is unknown, but is estimated at 1 in 10,000 to 30,000.[1]
A gene responsible for CdLS—NIPBL on Chromosome 5—was discovered in 2004 by researchers at Children’s Hospital of Philadelphia.[2] In 2006, a second gene—SMC1A on the X chromosome—was found by Italian scientists. A third gene discovery was announced in 2007. The gene SMC3 is on chromosome 10 and was also discovered by the research team in Philadelphia. The latter two genes seem to correlate with a milder form of the syndrome.
The vast majority of cases are due to spontaneous mutations, although the defected gene can be inherited from either parent, making it autosomal dominant.
The first ever documented case was in 1916 by W. Brachmann[3] followed up by Cornelia de Lange,[4] a Dutch pediatrician, in 1933 after whom the disorder has been named.
The diagnosis of CdLS is primarily a clinical one based on signs and symptoms (see below) observed through an evaluation by a physician, including a medical history, physical examination, and laboratory tests. Since 2006, testing for NIPBL and SMC1A has been available through the University of Chicago [1]. This is best accomplished through a referral to a genetics specialist or clinic.
CdLS is thought to be underdiagnosed and frequently misdiagnosed.[citation needed]
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