Cornelia de Lange Syndrome: What is Life Expectancy?

Little known, Cornelia de Lange syndrome is a rare disease that occurs Narrated by Cornelia de Lange In 1933. There are two forms: the classic severe form and a moderate to mild form called “Cornelia-mild”. The classic severe form is usually recognized at birth or in the first months of life. The milder form is more difficult to diagnose.

What are the causes of this syndrome?

So it is a genetic disease Hereditary It is considered to be rare which causes 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 2015 study highlighted the role of a complex called “cohesin” that changes the structure of genes. Changes in DNA, thus leading to several distortions. Research is still needed to understand the mechanisms of this complex. After tests on mice, removing it can cause other health problems.

What are the symptoms?

Among the typical signs are:

• Intrauterine growth retardation
• Postnatal growth retardation
• Microcephaly (head malformation)
• Eating difficulties (sometimes GERD)
• Facial dysmorphism with well-defined, arched and confluent eyebrows, long eyelashes, short nose with concave stop and opposite nostrils, mouth with drooping corners and very thin upper lip.

The syndrome may be associated with cardiac and gastrointestinal abnormalities. there Intellectual disability is moderate to profoundWith significant language delay associated with hearing (risk of deafness) and cognitive loss.

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 disorders.” 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. Severe forms of the syndrome affect 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 psychiatrists. Patients need a calm and structured environment. With age, they may gain independence but some daily activities will always require support.