Cornelia de Lange: Brachman de Lange; De Lange I syndrome; Amsterdam dwarfism

Cornelia de Lange syndrome (CdLS) is rare and affects between 1 in 15,000 and 1 in 50,000 babies born.

Children with the syndrome are small at birth and remain small compared to children of the same age. There are now growth charts specifically for children with CdLS and these can be downloaded from Web: http://www.cdlsusa.org/growthcharts.htm . 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.

Inheritance patterns
Although CdLS is a genetic disorder, it is rare for this condition to occur twice in the same family. At least one appointment at a genetics clinic is recommended. One gene that causes CdLS, NIPBL, has now been identified and this accounts for half of the cases.

Prenatal diagnosis
Prenatal testing of subsequent pregnancies in an affected family is possible using either genetic testing or detailed ultrasound scanning.

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.

The Psychological and behavioural characteristics information below was last updated March 2004 by Dr O Udwin, Consultant Clinical Child Psychologist, West London Mental Health NHS Trust, London, UK and Dr A Kuczynski, Child Clinical Psychologist, South London & Maudsley NHS Trust, London, UK with further information provided by Professor C Oliver, School of Psychology,University of Birmingham, Birmingham, UK.

Psychological and behavioural characteristics

Most of the children with Cornelia de Lange syndrome have moderate or severe learning difficulties, but some have borderline or low average cognitive abilities. All have delayed or limited speech development and perhaps as many as a third never develop more than a few words. In contrast, nonverbal visuospatial and fine motor skills are relative strengths. As they develop, many individuals are able to cope with their everyday needs, including eating, toileting and dressing, and they continue to acquire new skills into their late teens. Some adults are able to live in relatively independent settings.

Individuals with Cornelia de Lange syndrome show great variability in their behaviour, but there are common features. Some are placid and good-natured, but many are described as restless, overactive, distractible and irritable. Often, even those with well-developed vocabularies are not talkative. Many show autistic features, including diminished ability to relate socially, infrequent facial expression of emotion, rejection of physical contact, little reaction to sounds or to pain, and repetitive and stereotypic movements such as twirling. Some also display rigidity and inflexibility to change, and prefer a consistent and structured environment.

Self-injurious behaviour is common, although this may reflect the severity of general developmental difficulties rather than being a specific feature of the syndrome. The self-injury takes various forms, such as eye-pressing and poking, head-slapping, scratching and hand-biting. The latter is particularly common in Cornelia de Lange syndrome; it tends to be stereotyped and repetitive for a given individual and may have a compulsive quality. Aggression towards others may be less common. There is some evidence that hyperactive and self-injurious behaviours are related to pain from gastrointestinal reflux which is common in people with the syndrome.

Further Online Resources
Medical texts in The Contact a Family Directory are designed to give a short, clear description of specific conditions and rare disorders. More extensive information on this condition can be found on a range of reliable, validated web sites and links to them are included in the CD-ROM version of this Directory. Further information on these resources can be found in our Medical Information on the Internet article.

CDLS FOUNDATION UK

CDLS Foundation UK
The Gate House
104 Lodge Lane
Grays
RM16 2UL
Tel: 01375 376439
Fax: 01375 427 014
e-mail: info@cdls.org.uk
Web: http://www.cdls.org.uk

The Foundation is a National Registered Charity No. 1054033, established in 1984. It offers telephone support, regional contacts and meetings. It publishes a quarterly newsletter and has a wide range of information available, details on request. The Foundation is in touch with over 400 families.

Group details last updated September 2007.