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Cornelia De Lange syndrome

What are the symptoms?

The children will have slow or very slow development, usually associated with significant learning problems that are of variable severity. Some children have psychological and behavioural problems including autistic-like features and self injury. Most children have some form of limb abnormality but these can range from having small hands and particularly short thumbs in mild cases to almost complete absence of the forearms in severe cases. Almost all children will have an unusual marbled appearance to the skin on their arms and legs, particularly when they are cold. The most striking feature of the syndrome is that all the children look alike, like brothers and sisters.

Some medical complications are very common in CdLS including feeding and bowel problems (particularly gastro-oesophageal reflux) and hearing problems. Other complications that are seen in a minority of cases are congenital heart problems and seizures.

View Background Background  |  Psychological and behavioural characteristics View Psychological and behavioural characteristics

Medical text written August 2002 by Dr D Fitzpatrick. Last updated October 2005 by Dr D Fitzpatrick, Senior Clinical Scientist and Hon. Consultant Geneticist, MRC Human Genetics Unit, Western General Hospital, Edinburgh, UK.

 

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