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Cornelia de Lange Syndrome - Description

Page Contents

Other Names

de Lange syndrome, Brachmann de Lange syndrome

ICD-9

758.9, Conditions due to anomaly of unspecified chromosome

There is no code specifically for Cornelia de Lange syndrome.

Description

Cornelia de Lange syndrome (CdLS) is a multiple malformation system consisting of characteristic facial features (typically well-defined eyebrows that meet in the midline, short upturned nose, and thin downward-turning lips), developmental delay/intellectual disability, low birth weight and slow postnatal growth, hirsutism, and other malformations. The diagnosis of CdLS syndrome is made clinically.

Genetics

CdLS is a sporadic occurrence in the great majority of cases. Mutations in several genes (SCC2/NIPBL, SMC1 and SMC3) are known to cause CdLS, although the known gene mutations account for only 60% of cases diagnosed clinically. Gene mutations causing CdLS affect proteins involved in cohesion of sister chromatids (sister chromatids are chromatids located on the same chromosome) during their exhange of genetic material occurring as part of the cell division process; CdLS is a cohesinopathy. [Dorsett: 2009] [McNairn: 2008] [Liu: 2009]

Prognosis

Most children with CdLS have some intellectual disability and will often need supervised living and working situations as adults. See the Intellectual Disability (Mental Retardation) module and Intellectual disability/mental retardation - classification for more information. Most children with CdLS live to adulthood, although a small percentage die earlier due to heart defects, unrecognized bowel abnormalities, and complications of gastroesophageal reflux disease or GERD.

Prevalence

With milder cases of CdLS being described, prevalence is rising. Estimates currently are 1 in 10,000 individuals. [Dorsett: 2009]

Pearls And Alerts

On Initial Diagnosis Page

Gastroesophageal reflux

On Ongoing Assessment Page

Volvulus is common in children with CdLS

Unusual body movements may be a sign of gastroesophageal reflux

Decreased but predictable growth

Middle ear effusion is common in children with CdLS

On Treatment And Management Page

Critical care information

Growth hormone

Cornelia de Lange Syndrome Module Authors

Authors: Molly O'Gorman MD, 10/2009
Lynne M Kerr MD, PhD, 3/2009
Antonie Kline MD, 3/2009
Content Last Updated: 11/2009

The authors listed above are responsible for the overall Cornelia de Lange Syndrome Module. Authors contributing to individual pages in the module are listed on those pages.

Page Bibliography

Dorsett D, Krantz ID.
On the molecular etiology of Cornelia de Lange syndrome.
Ann N Y Acad Sci. 2009;1151:22-37. PubMed abstract

Liu J, Krantz ID.
Cornelia de Lange syndrome, cohesin, and beyond.
Clin Genet. 2009;76(4):303-14. PubMed abstract

McNairn AJ, Gerton JL.
Cohesinopathies: One ring, many obligations.
Mutat Res. 2008;647(1-2):103-11. PubMed abstract