Cornelia De Lange Syndrome Life Expectancy

Short answer: for people with Cornelia de Lange syndrome (CdLS) who don't have serious birth defects of the internal organs, such as a major heart or bowel problem, life expectancy is not significantly reduced. The risks to life come mainly from breathing problems linked to reflux and aspiration, bowel complications, and birth defects such as heart defects, which is why regular monitoring and prompt treatment matter.

What is Cornelia de Lange syndrome?

Cornelia de Lange syndrome is a rare genetic condition that affects development in many parts of the body. It is also called CdLS, Brachmann-de Lange syndrome or de Lange syndrome. It varies a lot: some people are mildly affected and others severely. It is thought to affect about 1 in 10,000 to 30,000 newborns, and mild cases are probably underdiagnosed.

Common features include:

• slow growth before and after birth, leading to short stature, and a small head (microcephaly)
• arched eyebrows that often meet in the middle, long eyelashes, a small upturned nose and small, widely spaced teeth
• differences in the bones of the arms, hands and fingers
• extra body hair
• intellectual disability, usually moderate to severe, and features similar to autism in many people
• hearing loss, eye problems, digestive problems, and in some people cleft palate, seizures or heart defects

What causes it?

More than half of people with CdLS have a change (variant) in the NIPBL gene. Changes in other genes, including SMC1A, SMC3, RAD21 and HDAC8, are much less common, and the cause isn't found in about 15% of people. Most cases come from a new genetic change in the child, with no family history, although an affected person can pass it on.

Life expectancy in CdLS

Studies of people with CdLS show that:

• Without severe birth defects of the internal organs, life expectancy is not significantly reduced.
• An older study of 48 people found only a modest rise in death rates compared with the general population, and the increase was greater at younger ages. Some people in that study lived into their 50s and 60s.

The main causes of death

A large study of 295 people with CdLS whose cause of death was known found:

The health problems that matter most

• Reflux (GERD) affects the majority of people with CdLS, around 75%. It can lead to food or stomach contents getting into the lungs (aspiration). About a third of people show signs of aspiration, and around 15% need a feeding tube.
• Heart defects are present in about 30%. The most common are narrowing of the pulmonary valve or arteries and holes between the heart's chambers.
• Bowel problems include intestinal malrotation (a twist in how the gut developed), which can lead to blockage.
• Seizures affect about 25%. They usually start before the age of two and most respond well to treatment.
• Hearing loss is very common and often improves over time.

Care that helps

Specialist guidance for CdLS recommends:

• treating reflux promptly and checking for bowel malrotation, with surgery for severe reflux if needed
• nutrition support, including special formulas or a feeding tube if needed, and growth charts made for CdLS
• careful checks before any operation, including for heart problems and low platelets, and close attention to the airway during anaesthesia
• physical, occupational and speech therapy, with speech therapy started early
• regular reviews of growth, feeding safety, breathing, development and behaviour, plus at least yearly eye and dental checks and yearly hearing tests in childhood
• support for the whole family