Cornelia de Lange syndrome: what life expectancy?

Little known, Cornelia de Lange syndrome is a rare disease that has been described by Cornelia de Lange in 1933. There are two forms: a classic severe form and a moderate to mild form called “Cornelia-Mild”. The classic severe form is generally recognized from birth or the first months of life. The mild form is more difficult to diagnose.

What are the causes of this syndrome?

It is a genetic disease therefore hereditary considered rare which causes a developmental disorder. Its transmission depends on the gene involved in the pathology. It is “autosomal dominant” when it concerns the NIPBL, SMC3, BRD4 and RAD21 genes. It is “X-linked dominant” for the HDAC8 and SMC1A genes. A study of 2015 shed light on the role of a complex called “cohesin” which changes the structure of genes modifying DNA, thus leading to several malformations. Research is still needed to understand the mechanisms of this complex. After tests on mice, the deletion of this molecule could lead to other health problems.

What are the symptoms ?

Among the characteristic signs:

• intrauterine growth retardation
• stature delay after birth
• microcephaly (head malformation)
• eating difficulties (sometimes GERD)
• facial dysmorphism with well-defined, arched and confluent eyebrows, long eyelashes, a short nose with a concave stop and anteverted nostrils, a mouth with drooping corners and a very thin upper lip.

The syndrome may be associated with cardiac and gastrointestinal abnormalities. There intellectual disability is moderate to profoundwith significant language delay linked to hearing (risk of deafness) and cognitive damage.

Cornelia de Lange syndrome is not a degenerative disease. “There Most children will live to adulthood ; However, every child should be monitored for life-threatening conditions such as heart defects, untreated gastroesophageal reflux disease, and intestinal abnormalities.” indicates the website of the World Federation of Support for CdLS. If there are no major malformations, life expectancy is normal. There is no treatment to cure it. As severe forms of the syndrome have consequences on the daily life of the affected patient, care is provided by a specialized multidisciplinary team involving numerous health professionals such as geneticists, pediatricians, cardiologists, pulmonologists, orthopedists, ophthalmologists, neurologists and even psychiatrists. Patients need a calm and structured environment. With age, they can gain independence but certain daily actions will always require support.