Cornelia de Lange syndrome

Cornelia de Lange syndrome
Cornelia de Lange syndrome is a congenital hereditary disorder which can cause severe developmental anomalies. The progress and growth of the baby is usually affected in both ways, physically and intellectually.

Cornelia de Lange syndrome is also referred to by other names like ‘Bachmann-de Lange syndrome’ or ‘Amsterdam dwarfism’. Cornelia de Lange syndrome’s occurrence rate is unknown.However, estimates indicate that the disease affects one out of every ten thousand to thirty thousand people.

The 1st person to have reported about Cornelia de Lange syndrome is W. Brachmann in the year 1916.  Later in the year 1933, a pediatrician named Cornelia de Lange from Holland explained the signs and symptoms of the disorder; therefore the syndrome was named after him. Research reports and studies have shown that the abnormalities of a gene in chromosome 5 can be a possible cause of the disorder.

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Symptoms of Cornelia de Lange syndrome

Mostly, the symptoms of Cornelia de Langesyndrome can be seen from birth. Some unusual facial characteristics are as follows:

• Upturned nose


• Small lower jawand/oran upper jaw that juts out


• Thin lips


• Presence of eye-catching eyebrows which seem to be arched and may more or less join each other


• Low front and back hairlines


• Long and curly eyelashes


• Mouth is slanting downwards

Some of the physical symptoms which may appear are as follows:

• Short neck


• Head may be too small


• Difficulties with vision and eye problems


• Abnormalities of the handsare clearly visible, like unusually small hand, absent fingers, and the little fingers may be bent inwards


• Affected babies may have an early birth and also may be very small in size when born. The affected babies may have tight muscles, low-pitched cries, and also have feeding problems.


• Excess amounts of body hair. It typically becomes thinner as the affected baby grows up.

A child with Cornelia de Lange syndrome may suffer from heart defects and problems, such as:

• Several studies show that approximately twenty to thirty per cent of the affected children also suffer from congenital cardiac disorders. The seriousness of the cardiac abnormalities may be minor like atrial septal defect to very serious like Tetralogy of Fallot.


• Cardiac defects may be seen clearly in few affected infants whereas in some it may be very restrained and subtle. Therefore, detection of such cardiac defects is usually delayed. Due to such defects in heart, the affected child may experience a short stature and stunted growth. It is therefore vital for affected children to be examined by a cardiac specialist for detection of Cornelia le Lange syndrome.

Babies suffering from Cornelia de Lange syndrome can also have several dental abnormalities. These include:

• Babies suffering from this disorder may have tiny and small teeth which are mostly jam-packed.


• Acids in stomach, because of reflux, may lead to erosion and weakening of teeth.


• The affected baby may also suffer from cleft palate. This will cause problems in breathing, feeding and speaking. Also, there is an extra risk of formation of infection in ears.

Affected Babies can also suffer from behavioral problems and disorders which include symptoms like aggression, impulsiveness, numerous tantrums, self-injuries, failure to communicate emotions, and symptoms of autism.

Causes of Cornelia de Lange syndrome

Cornelia de Lange syndrome occurs due to various mutations in different genes. Some causes as found through varied studies are listed below:

• In the year 2004, research reports from experts at Newcastle University in United Kingdom and Children’s Hospital of Philadelphia from United States of America found that changes in a specific gene called as ‘NIPBL’ on the chromosome 5 was responsible for the syndrome.


• In the year 2006, some scientists from Italy discovered the 2nd gene called as ‘SMC1A’ which is found on the chromosome X. It was said to be 2nd reason for development of Cornelia de Lange syndrome.


• In the year 2007, researchers from Philadelphia found the 3rd gene called as ‘SMC3’. This is found on the chromosome 10. Cornelia de Lange syndrome can also arise due to mutations of the SMC3 gene.

It is known that changes of the 2nd and 3rd gene lead to milder forms of Cornelia de Lange syndrome. Most cases are the result of accidental or chance events that cause changes in the genes. Still there is a possibility of abnormal gene being carried forward to the children from the parents. Therefore, this syndrome is said to have an ‘autosomal dominant model of inheritance.’ It means that one copy of this abnormal gene is enough for formation of Cornelia de Lange syndrome.

Treatment of Cornelia de Lange syndrome

No known cure is available for Cornelia de Lange syndrome. The aim of the treatments is to alleviate and correct the symptoms of the syndrome, and to prevent further complications, if any, caused because of the disorder.

Some treatments include:

• Speech therapies, behavioral therapies and physical therapies. Along with these other different kind of therapies are also essential to help in the proper development of the baby as well as to resolve behavioral and language problems.


• Doctors may opt for surgeries for correction of any associated cardiac and dental abnormalities.

 Life Expectancy

Most children with Cornelia De Lange Syndrome can live right up to adulthood but the condition may be fraught with conditions like heart problems, bowel inconsistencies and acid reflux.

Cornelia de Lange syndrome Pictures