MRC Human Genetics Unit
Medical Research Council Human Genetics Unit

Developmental disorders

Printable medical alert care cards for those with Cornelia de Lange syndrome.

Background

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. Dr David FitzPatrick serves as the medical director of the Cornelia de Lange syndrome (CdLS) Foundation http://www.cdls.org.uk/.   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.

Resource

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

Cornelia de Lange sydrome medical alert care card