What to Know About Cornelia de Lange Syndrome

Medically Reviewed by Poonam Sachdev on October 07, 2022
Written by Christine Loconti
4 min read

CdLS (Cornelia de Lange Syndrome) is a rare genetic disorder that affects about 1 in every 10,000 babies born in the US. This disorder can cause a range of symptoms, including physical, medical, and cognitive difficulties. Symptoms may range from mild to severe.

Here’s what you need to know about the symptoms, treatment, and prognosis for CdLS. 

Cornelia de Lange Syndrome (CdLS) is a rare genetic condition that’s present from birth and affects several different aspects of a child’s life. There are two forms of CdLS: mild and classic. Most of the typical descriptions of this syndrome refer to the classic form, but children with the mild form may experience the same symptoms to a lesser degree.

Babies with CdLS typically have a low birth weight and size. It’s also very common for babies with Cornelia de Lange Syndrome to have a smaller-than-average head circumference, a condition called microcephaly.

Besides some physical differences, children who are born with CdLS may develop intellectual disabilities that range from moderate to severe. This can include behavioral problems and autism. Along with this, many children experience a language delay, with some engaging in little-to-no speech.

Symptoms of Cornelia de Lange syndrome can be noticed either before or after birth. Children with this condition often have a lot of the same physical features, and their symptoms include:

  • Microcephaly
  • Long eyelashes
  • High, arched eyebrows or thin, bushy eyebrows that meet in the middle
  • Lower hairline
  • Heart defects
  • Excessive body hair
  • Cleft palate
  • Underdeveloped sexual organs
  • Problems with the hands and arms
  • Teeth and eyes that are spaced widely apart
  • Dental abnormalities
  • A short, upturned nose
  • Thin lips that turn downwards
  • Failure of the testes to descend into the scrotum (cryptorchidism)

Gastrointestinal problems that range from mild to severe are also common in cases of CdLS. They include:

As mentioned, CdLS usually comes with some intellectual impairment. Children with Cornelia de Lange syndrome may experience:

  • Delayed development
  • Learning disabilities
  • Behavioral problems
  • ADHD
  • Anxiety
  • Autism 

Depending on the child, some people with CdLS can experience problems with hearing and vision, like myopia and hearing loss.

CdLS can affect anyone since it’s present in both genders and all ethnicities. It’s caused by a genetic mutation in one of several different genes. In most cases, it happens spontaneously with no known previous family history of Cornelia de Lange syndrome.

At least seven different genes have been associated with CdLS, and people who have this condition have at least five different gene mutations. The degree to which a baby has CdLS depends on the kind of mutation and the genes that are affected. Over half of babies born with CdLS have mutations in the NIPBL gene, which is related to more severe symptoms.

CdLS can be inherited as an autosomal dominant syndrome, so there is a 50% chance that a parent with this condition will pass it on to their child. Within families, though, there’s only a 1 or 2% chance that two or more siblings will both be born with Cornelia de Lange syndrome.

To diagnose CdLS, your child’s pediatrician will perform a physical examination and ask about both your child’s and family’s medical history. Since many of the symptoms of Cornelia de Lange syndrome are physical characteristics, your pediatrician will note if your child shows any of them.

Your child’s doctor may also order laboratory tests, including genetic testing, before making a positive diagnosis. They will look for mutations in these genes:

  • NIPBL
  • SMC1A
  • RAD21
  • SMC3
  • HDAC8

Since there are at least seven different genes that are responsible for causing CdLS, it’s very likely that not every person with this condition will show all of these mutations. Performing genetic testing, though, helps to pinpoint which gene or genes are involved with your child’s CdLS.

Even though having multiple children with CdLS is very rare, it’s recommended that an ultrasound be performed between 18 and 20 weeks for any following pregnancies to check for this condition. During this window of time, your doctor can thoroughly examine the anatomy of your baby and check for any noticeable signs of CdLS, like limb abnormalities or an abnormal facial profile.

There currently isn’t a cure for CdLS, but different types of therapies help people to live with this condition. Depending on the symptoms, a team of specialists can work together to decide the best course of treatment. Specialists who can help treat CdLS, depending on the individual’s symptoms, include:

  • Geneticists
  • Pediatricians
  • Surgeons
  • Cardiologists
  • Specialized dentists
  • Audiologists
  • Eye specialists
  • Physical therapists
  • Occupational therapists
  • Speech pathologists
  • Plastic surgeons
  • Feeding specialists
  • Orthopedists: doctors who specialize in skeletal disorders
  • Orthopedic surgeons
  • Urologists: doctors who treat urinary tract disorders
  • Otolaryngologists: ear, nose, and throat specialists
  • Gastroenterologists: specialists in digestive tract disorders

Babies and children who are diagnosed with CdLS are monitored closely as they develop. Treatment plans are tailored to the child to help them manage their symptoms and lead a healthy life. In some cases, surgery can help with problems like a cleft palate, removing excess hair, or correcting heart defects. Medications can be an option for symptoms like gastrointestinal problems or cardiac abnormalities.

While there is no cure, most children who are diagnosed with Cornelia de Lange syndrome live a normal lifespan. Since most have an intellectual disability to some degree, though, it’s common that your child will need support and supervision throughout their adulthood. This includes providing both living and working situations that offer supervision but still allow your child to have some independence.

Even though most people with CdLS have a normal life expectancy, a shortened lifespan can also be the result of certain complications. A small percentage of children die earlier due to complications like:

  • Recurrent pneumonia
  • Congenital heart defects
  • Gastrointestinal diseases
  • Diaphragmatic hernias
  • Intestinal issues

These complications worsen if they aren’t properly diagnosed or treated or if the problems are recurring. However, with the right care, your child should be able to live a long, happy, and normal life.