There are a number of serious problems that occur with CdLS. The most common of these are heart abnormalities, gastroeasophagal reflux, deafness and behaviour problems.

Heart abnormalities.
Approximately one in 10 children with the syndrome will have an abnormality of the heart. Most of these abnormalities are small holes between the two sides of the heart which will close as the child grows. Larger holes are rarer and will need surgery to close them. Approximately three in 100 children with the syndrome will have a serious heart abnormality that will require open heart surgery.

Gastroesophageal Reflux
Gastroesophageal reflux is the medical term used when acid from the stomach flows back up into the tube which connects the mouth to the stomach (oesophagus). The acid in the stomach is used to break down food and the lining of the stomach is especially designed to withstand the acid. The oesophagus however was intended to carry food from the mouth to the stomach and does not have an acid resistant lining. If acid from the stomach flows back up the oesophagus not only will this be painful but it can lead to eventual scarring. Medicines can be used to treat this condition and they work by cutting down the amount of acid in the stomach. If medicines are not successful then it may be necessary to operate. Monitoring with a Ph probe and direct examination of the oesophagus with a fibreoptic endoscopy are often used by doctors to diagnose the condition.

Doctors can obtain copies of the published medical papers on this subject by writing to the de Lange Foundation

Deafness
Most children with the syndrome have some hearing impairment and in some cases this may be severe enough for them to need hearing aids.

Behaviour
Many normal children have behavioural problems and we know that behaviour problems are more common in children who are mentally handicapped. We do not yet know whether there are any behaviour problems that are special to de Lange Syndrome but studies into this aspect are currently being carried out at Birmingham University and in the USA. The pain associated with gastroesophageal reflux is a common reason for deterioration in a child’s behaviour and successful treatment of the reflux frequently results in a dramatic improvement in behaviour.