Cornelia de Lange Syndrome

Cornelia de Lange syndrome (CdLS) is a rare genetic condition that causes various physical, cognitive and behavioral traits. It affects many parts of your child’s body, so symptoms vary widely. The most common signs of the disorder include delayed growth and distinct facial features. A mutation in one of seven genes typically causes the disease.


What is Cornelia de Lange syndrome?

Cornelia de Lange syndrome (CdLS) is a rare genetic disorder that causes physical, cognitive and behavioral differences. The signs and symptoms of the condition vary widely and range from mild to severe. No two children with the disorder have exactly the same combination of traits, but there are many similarities in their appearance and behavior. The disorder affects many different parts of your child’s body. Typical features of the disease include:

  • Delayed growth before and after birth.
  • Head and facial (craniofacial) differences.
  • Hand and arm defects.
  • Excessive hair on scalp and body (hypertrichosis or hirsutism).
  • Intellectual disability.


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How common is Cornelia de Lange syndrome?

Cornelia de Lange syndrome is a very rare condition that’s present at birth. The disorder occurs in 1 in 10,000 to 1 in 50,000 live births in the U.S. But researchers believe the disease is underdiagnosed. The mild features of the disorder may be mistaken for another condition. They may not be recognized as being associated with Cornelia de Lange syndrome.

Symptoms and Causes

What are the signs and symptoms of Cornelia de Lange syndrome?

Cornelia de Lange syndrome looks like something different for each person affected by it. The condition can affect many different parts and systems of your child’s body. If your child has the condition, they may have the following features:

Distinctive craniofacial features

  • Highly arched eyebrows that usually meet in the middle (synophrys).
  • Long eyelashes.
  • Low-set ears.
  • Small, widely spaced teeth
  • Small, upturned nose.
  • Unusually small head (microcephaly).
  • Cleft palate.

Neurodevelopmental features

Psychiatric features

Cornelia de Lange syndrome can also cause:


What causes Cornelia de Lange syndrome?

A harmful change (pathogenic variant) in one of seven genes is the usual cause of Cornelia de Lange syndrome. These genes are NIPBL, SMC1A, HDAC8, RAD21, SMC3, BRD4 and ANKRD11. They’re responsible for the structure and function of the cohesin complex.

The cohesin complex is a group of proteins that play an important role in your child’s development before birth. Among other functions, the cohesin complex controls the activity of certain genes responsible for the development of your child’s limbs, face and other body parts. A pathogenic variant in one of these genes impairs the function of the cohesin complex, which interferes with early development.

About 60% to 80% of all people with Cornelia de Lange syndrome have a mutation in the NIPBL gene. Mutations in the six other genes are less common. In 5% to 20% of people with the condition, the genetic cause is unknown.

Most people with the condition don’t have a family history of the disorder, but if a parent has a mild form of the condition and has children, the chance could be as high as 50% to have a child with the condition. If two unaffected parents have a child with Cornelia de Lange, the chance to have another child with the condition is estimated to be 1% to 1.5%.

What complications can arise from Cornelia de Lange syndrome?

Cornelia de Lange syndrome affects many different parts of your child’s body. Therefore, various complications can occur. These may include:

Gastrointestinal problems

  • Duodenal atresia: A blockage in the first part of your baby’s small intestine.
  • Congenital diaphragmatic hernia: A condition where there’s a hole in your baby’s diaphragm.
  • Malrotation: An abnormality in the way your baby’s intestines form.
  • Pyloric stenosis: A condition where the opening from your baby’s stomach to their duodenum is smaller than usual.
  • Inguinal hernia: A condition that occurs when part of your baby’s intestine pushes through an opening in their abdominal wall through their inguinal canal.
  • Barrett’s esophagus: A condition that can develop due to severe GERD.

Genitourinary problems

  • Undescended testicles (cryptorchidism): A condition that occurs when your baby’s testicles don’t drop into their scrotum before or shortly after birth.
  • Hypospadias: A condition where your baby’s urethra doesn’t develop properly in their penis.
  • Renal hypoplasia: A condition where one or both of your baby’s kidneys are smaller than normal.

Eye problems

  • Ptosis: A condition where your child’s upper eyelid droops and they’re unable to fully open their eye.
  • Blepharitis: A condition where your child’s eyelids become infected and swollen.
  • Visual impairment: Conditions such as astigmatism, which occurs when the outer layer of your child’s eye is curved, cause blurred vision.


Diagnosis and Tests

How is Cornelia de Lange syndrome diagnosed?

Your child’s healthcare provider may be able to diagnose Cornelia de Lange syndrome at birth or shortly thereafter. They’ll perform a physical exam, evaluate your child’s symptoms and ask about your family history.

Diagnosis of the condition can be more difficult if your child’s symptoms are mild. Your child’s healthcare provider may request genetic testing to verify their diagnosis.

Rarely, your provider can diagnose the disorder before birth. Prenatal genetic testing can identify gene mutations for the condition.

Management and Treatment

How is Cornelia de Lange syndrome treated?

Treatment for Cornelia de Lange syndrome varies based on your child’s specific symptoms. Because the condition can affect many different parts of your child’s body, a team of healthcare providers may help with treatment. Treatment may include:


  • High-calorie formulas and/or feeding tube (gastrostomy tube) placement to help improve your child’s growth delay.
  • A consultation with a nutritionist to address feeding difficulties.


Surgery to treat:

  • Skeletal abnormalities.
  • Gastrointestinal problems.
  • Heart defects.
  • Cleft palate.
  • Undescended testicles.


Some gastrointestinal and heart defects may also be treated with medication.


Therapy should be ongoing throughout your child’s life. Different therapies will address your child’s delayed growth, intellectual disabilities and behavioral issues. Therapies may include:

In addition, your child should be evaluated and monitored for certain functions and developmental delays throughout their life. These include:

  • Hearing and vision screenings.
  • Growth and psychomotor development.
  • Heart and kidney function.
  • Gastrointestinal function.


How can I prevent Cornelia de Lange syndrome?

You can’t prevent Cornelia de Lange syndrome since it’s a genetic condition. If you plan on becoming pregnant and want to understand your risk of having a child with a genetic condition, talk to your healthcare provider about genetic testing or genetic counseling.

Outlook / Prognosis

What is the life expectancy for Cornelia de Lange syndrome?

Life expectancy is somewhat normal for people with Cornelia de Lange syndrome. Most children with the condition live well into adulthood. But if your child has certain features of the disease, they may decrease life expectancy. These features include heart and throat defects.

Adults with Cornelia de Lange syndrome may need continuing medical care throughout their lives. If complications develop, the prognosis (outlook) depends on the severity and treatment of that condition.

A note from Cleveland Clinic

Finding out your baby has a rare genetic disorder can be heartbreaking. But most children with Cornelia de Lange syndrome lead full lives and live well into adulthood. When you find out about your child’s disease, your child’s healthcare provider will walk you through various treatment options. You may work with a team of specialists. Make sure you learn all you can about your child’s condition so you can be an advocate for them in getting them the best care possible.

Medically Reviewed

Last reviewed on 07/12/2023.

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