Cornelia de Lange Syndrome 1

Common Name(s)

Cornelia de Lange Syndrome 1

The Cornelia de Lange syndrome (CDLS) is a multisystem malformation syndrome recognized primarily on the basis of characteristic facial dysmorphism, including low anterior hairline, arched eyebrows, synophrys, anteverted nares, maxillary prognathism, long philtrum, thin lips, and 'carp' mouth, in association with prenatal and postnatal growth retardation, mental retardation and, in many cases, upper limb anomalies. However, there is wide clinical variability in this disorder, with milder phenotypes that may be difficult to ascertain on the basis of physical features (summary by {97:Rohatgi et al., 2010}). Genetic Heterogeneity of Cornelia de Lange Syndrome About 50 to 60% of the cases of CDLS are due to mutation in the NIPBL gene ({77:Musio et al., 2006}; {97:Rohatgi et al., 2010}). One X-linked form of CDLS (CDLS2; {300590}) is caused by mutation in the SMC1A gene ({300040}), which accounts for about 5% of cases. Two milder variants of Cornelia de Lange syndrome have been identified: CDLS3 ({610759}), caused by mutation in the SMC3 gene ({606062}), and CDLS4 ({614701}), caused by mutation in the RAD21 gene ({606462}). All 4 genes, NIPBL, SMC1A, SMC3, and RAD21, encode components of the cohesin complex. Another X-linked form, CDLS5 ({300882}), is caused by mutation in the HDAC8 gene ({300269}), the vertebrate histone deacetylase of SMC3.
 

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Condition Specific Organizations

Following organizations serve the condition "Cornelia de Lange Syndrome 1" for support, advocacy or research.

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Cornelia de Lange Syndrome 1" returned 1 free, full-text research articles on human participants. First 3 results:

A de novo translocation t(3;17)(q26.3;q23.1) in a child with Cornelia de Lange syndrome.
 

Author(s): M Ireland, C English, I Cross, W T Houlsby, J Burn

Journal: J. Med. Genet.. 1991 Sep;28(9):639-40.

 

A female infant with Cornelia de Lange syndrome and severe limb reduction defects is described. Chromosome analysis showed a de novo translocation with breakpoints at 3q26.3 and 17q23.1. This is the first reported case of a de novo translocation associated with this syndrome.

Last Updated: 27 Dec 1991

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The terms "Cornelia de Lange Syndrome 1" returned 0 free, full-text review articles on human participants.

 
 
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