Amsterdam dwarfism Cornelia de Lange Syndrome is rare and affects between 1 in 40,000 and 1 in 100,000 babies born. Children with the syndrome are small at birth and remain small compared to children of the same age. They are all slow learners but this varies from mild to severe. Most children have limb abnormalities which range from small arms to complete absence of the forearms. The most striking feature of the syndrome is that all the children look alike, like brothers and sisters.
Some children have other problems which include heart problems and gastroesophageal reflux.
Inheritance patterns Sporadic incidence. The Medical research Council are funding a major research project at Newcastle University to identify the faulty gene that causes Cornelia de Lange Syndrome. There are also many research projects being carried out in both Britain and North America looking at many different aspects of the syndrome including behaviour, speech, language development and hearing. The result of these projects will be published in the medical literature and information will be distributed to families through the CDLS Foundation. The information below has been drawn up by Dr Orlee Udwin of the Society for the Study of Behavioural Phenotypes.