MRC Human Genetics Unit
Medical Research Council Human Genetics Unit

Cornelia de Lange syndrome

MRC Human Genetics Unit Cornelia de Lange Syndrome Study.


CdLS is a rare developmental malformation syndrome characterized by learning disability, small stature, limb abnormalities, severe gastroesophageal reflux and distinctive craniofacial features. Within Cornelia de Lange syndrome there is a wide spectrum of severity. I have been the medical director of the Cornelia de Lange syndrome (CdLS) Foundation since 2002. In the north of England the incidence of Cornelia de Lange syndrome of 1 in 37,000 (Dr. M. Ireland, personal communication). It is suspected that there are many mildly affected individuals who remain undiagnosed.

It is possible to identify the genetic cause in about 50% of CdLS cases. Most of the genetic changes are in a gene called NIPBL on chromosome 5. These mutations are mostly found in the affected individuals but not in either parent. Such mutations are called de novo. Mutations have also been identified in a small number of cases in SMC1A on the X chromosome and SMC3 on chromosome 10. 

In 50% of cases the genetic cause of the disorder is not known.

Resources for Patients and Families

Researchers at the MRC Human Genetics Unit have collaborated with the Cornelia de Lange Syndrome Foundation to create a prinatable medical alert care card for those with Cornelia de Lange sydrome.

Cornelia de Lange sydrome medical care card