Cornelia de Lange Syndrome: Symptoms, Causes, Diagnosis, Treatment and Outlook — What You Need to Know
Updated: 2 days ago
Medically reviewed by Dr. Baraa Alnahhal, MD · Last reviewed: September 2026
Quick Answer: Cornelia de Lange syndrome (CdLS) is a rare genetic disorder, present from birth, that causes physical, cognitive and behavioral differences. It occurs in roughly 1 in 10,000 to 1 in 50,000 live births in the U.S. A change in one of seven genes that control the cohesin complex — a protein group guiding early development — typically causes it. The most common signs are delayed growth before and after birth, distinctive facial features and developmental delays. There is no cure, but treatment for each symptom, ongoing therapies and lifelong monitoring help most children lead full lives well into adulthood.
TL;DR: Cornelia de Lange syndrome is a rare, birth-present genetic condition where a gene change impairs the cohesin complex and interferes with early development. It affects the face, growth, limbs, intellect and behavior — and no two children are affected exactly the same way. Diagnosis often happens at or shortly after birth through exam and genetic testing. Care is symptom-based: feeding support, surgeries, medications and lifelong therapies. Limitation: this guide covers only what the cited sources state; it does not include survival rates beyond the general statement that life expectancy is "somewhat normal" for most people with CdLS.
When Should You Talk to a Pediatric Specialist? If your newborn or young child shows a combination of unusual facial features (very arched eyebrows that meet in the middle, long eyelashes, small upturned nose), slow growth, or developmental delays, ask your pediatrician for an evaluation and, where appropriate, referral to a geneticist. Features can be mild and mistaken for another condition, so a professional assessment matters. Genetic testing can confirm the diagnosis.
What Is Cornelia de Lange Syndrome?
Cornelia de Lange syndrome (CdLS) is a rare genetic disorder that causes physical, cognitive and behavioral differences. The condition is present at birth and affects many different parts of a child's body.
The signs and symptoms vary widely and range from mild to severe. No two children with the disorder have exactly the same combination of traits, yet there are many similarities in how affected children look and behave.
The most common features of the disorder include:
Typical Feature | What It Means |
|---|---|
Delayed growth | Slower growth before and after birth |
Craniofacial differences | Distinctive head and facial features |
Hand and arm defects | Abnormalities of the limbs |
Excessive body hair | Extra hair on the scalp and body (hypertrichosis or hirsutism) |
Intellectual disability | Cognitive differences affecting learning |
How Common Is Cornelia de Lange Syndrome?
CdLS is a very rare condition. It occurs in 1 in 10,000 to 1 in 50,000 live births in the U.S.
Researchers believe the condition is underdiagnosed. Mild features may be mistaken for another condition, or may not be recognized as belonging to Cornelia de Lange syndrome at all.
What Are the Signs and Symptoms of Cornelia de Lange Syndrome?
CdLS looks different for each person it affects. The condition can involve many different parts and systems of a child's body. If your child has the condition, they may show the following features.
Distinctive Craniofacial Features
The face and head often carry the clearest clues:
Feature | Description |
|---|---|
Synophrys | Highly arched eyebrows that usually meet in the middle |
Long eyelashes | Unusually long lashes |
Low-set ears | Ears positioned lower on the head |
Small, widely spaced teeth | Distinctive dental spacing and size |
Small, upturned nose | Short nose with upward tip |
Microcephaly | Unusually small head |
Cleft palate | Opening in the roof of the mouth |
Neurodevelopmental Features
Developmental delays are common, and most children with CdLS have moderate to severe intellectual disability.
Psychiatric and Behavioral Features
Behavioral challenges can accompany the condition, including:
Feature | Description |
|---|---|
Autism-like behaviors | Behavioral problems similar to autism spectrum disorder |
ADHD | Attention-deficit/hyperactivity disorder |
Anxiety | Anxiety disorders |
For more on these conditions, see our guides to ADHD and anxiety in children.
Other Possible Features
Beyond the face, brain and behavior, CdLS can also cause slow growth before and after birth (which can lead to short stature), abnormalities of the bones in the arms, hands and fingers, excess body hair, hearing loss, gastrointestinal issues such as chronic acid reflux (GERD), genital abnormalities such as undescended testicles, vision problems such as nearsightedness, seizures, and heart defects such as a hole in the heart.
What Causes Cornelia de Lange Syndrome?
A harmful change (pathogenic variant) in one of seven genes is the usual cause of CdLS. These genes are NIPBL, SMC1A, HDAC8, RAD21, SMC3, BRD4 and ANKRD11.
These seven genes are responsible for the structure and function of the cohesin complex — a group of proteins that plays an important role in development before birth. Among other functions, the cohesin complex controls the activity of certain genes responsible for the development of a child's limbs, face and other body parts.
A pathogenic variant in one of these genes impairs the cohesin complex. That impairment interferes with early development.
How Genetics Work in CdLS
The NIPBL gene dominates. About 60% to 80% of all people with CdLS have a mutation in NIPBL. 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 do not have a family history of it. But genetics still matter in two situations:
Situation | Chance of Another Affected Child |
|---|---|
A parent has a mild form of CdLS | Could be as high as 50% |
Two unaffected parents had one child with CdLS | Estimated 1% to 1.5% |
What Complications Can Arise From Cornelia de Lange Syndrome?
Because CdLS affects many different parts of the body, various complications can occur. They fall into three main groups.
Gastrointestinal Problems
Complication | What It Is |
|---|---|
Duodenal atresia | A blockage in the first part of the small intestine |
Congenital diaphragmatic hernia | A hole in the diaphragm |
Malrotation | An abnormality in how the intestines form |
Pyloric stenosis | A stomach-to-duodenum opening that is smaller than usual |
Inguinal hernia | Intestine pushing through an opening in the abdominal wall |
Barrett's esophagus | A condition that can develop due to severe GERD |
Read more about pyloric stenosis in our dedicated guide.
Genitourinary Problems
Genitourinary complications include undescended testicles (cryptorchidism), where the testicles don't drop into the scrotum before or shortly after birth; hypospadias, where the urethra doesn't develop properly in the penis; and renal hypoplasia, where one or both kidneys are smaller than normal.
Eye Problems
Eye complications include ptosis (a drooping upper eyelid that prevents fully opening the eye), blepharitis (infected, swollen eyelids) and visual impairment, such as astigmatism, which curves the outer eye layer and causes blurred vision.
How Is Cornelia de Lange Syndrome Diagnosed?
A healthcare provider may be able to diagnose CdLS at birth or shortly thereafter. The evaluation includes a physical exam, a review of the child's symptoms, and questions about family history.
Diagnosis can be more difficult when a child's symptoms are mild. In those cases, the provider may request genetic testing to verify the diagnosis.
Rarely, the disorder can be diagnosed before birth. Prenatal genetic testing can identify the gene mutations associated with the condition.
How Is Cornelia de Lange Syndrome Treated?
There is no cure for CdLS, and treatment varies based on the child's specific symptoms. Because the condition can affect many body parts, a team of healthcare providers typically helps manage care.
Feeding Support
High-calorie formulas and/or feeding tube (gastrostomy tube) placement can help improve growth delay. A nutritionist can address feeding difficulties.
Surgery
Surgery may be used to treat skeletal abnormalities, gastrointestinal problems, heart defects, cleft palate, and undescended testicles.
Medications
Medication Type | Purpose |
|---|---|
Anticonvulsants | Prevent or control seizures |
Antidepressants | Treat self-injurious or aggressive behaviors |
Antibiotics | Treat respiratory infections |
Some gastrointestinal and heart defects may also be treated with medication.
Therapies
Therapy should be ongoing throughout the child's life. Different therapies address delayed growth, intellectual disability and behavioral issues. These include physical therapy, occupational therapy, speech therapy and psychotherapy.
Ongoing Monitoring
The child should be evaluated and monitored throughout life for:
Area of Monitoring | Why It Matters |
|---|---|
Hearing and vision screenings | Hearing loss and visual impairment are common |
Growth and psychomotor development | Delayed growth is a hallmark feature |
Heart and kidney function | Heart defects and renal hypoplasia can occur |
Gastrointestinal function | GI problems such as GERD are common |
What Is the Life Expectancy for Cornelia de Lange Syndrome?
Life expectancy is somewhat normal for people with CdLS. Most children with the condition live well into adulthood.
Certain features of the disease may decrease life expectancy — in particular, heart and throat defects.
Adults with CdLS may need continuing medical care throughout their lives. If complications develop, the outlook depends on the severity and treatment of that condition.
Can Cornelia de Lange Syndrome Be Prevented?
You cannot prevent CdLS, because it is a genetic condition.
If you plan to become 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.
A note from the source's medical reviewers: "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."
Conclusion: What to Do Next If You Suspect Cornelia de Lange Syndrome
Cornelia de Lange syndrome is rare, but its pattern of signs — distinctive facial features, slow growth, developmental delays — is recognizable to experienced clinicians. Because mild cases can be mistaken for other conditions, an evaluation is worth pursuing whenever these signs appear together.
If your child shows any combination of these features, start with your pediatrician and ask about a referral to a geneticist. Genetic testing can confirm the diagnosis, and a specialist team can begin the feeding support, therapies and monitoring that help children with CdLS thrive.
Most children with CdLS lead full lives and live well into adulthood — and parents who learn about the condition become their child's strongest advocates.
Next step: If your child has signs consistent with CdLS, talk to your pediatrician about a genetic evaluation. If you are planning a pregnancy and have a family history of the condition or a previously affected child, ask about genetic counseling to understand your risks.
FAQ: Cornelia de Lange Syndrome
1. What is Cornelia de Lange syndrome?
Cornelia de Lange syndrome (CdLS) is a rare genetic disorder, present at birth, that causes physical, cognitive and behavioral differences across many body systems.
2. How common is Cornelia de Lange syndrome?
It occurs in 1 in 10,000 to 1 in 50,000 live births in the U.S., and researchers believe it is underdiagnosed because mild cases resemble other conditions.
3. Is Cornelia de Lange syndrome genetic?
Yes. A pathogenic variant in one of seven genes — NIPBL, SMC1A, HDAC8, RAD21, SMC3, BRD4 or ANKRD11 — is the usual cause.
4. What gene most commonly causes CdLS?
The NIPBL gene. About 60% to 80% of people with CdLS have a mutation in this gene.
5. What is the cohesin complex?
It is a group of proteins important in development before birth. The seven CdLS genes control its structure and function, and it regulates genes responsible for limb, face and other body-part development.
6. What are the most common signs of Cornelia de Lange syndrome?
Delayed growth before and after birth, distinctive facial features (arched eyebrows meeting in the middle, long eyelashes, small upturned nose), hand and arm defects, excessive body hair, and intellectual disability.
7. Does every child with CdLS look the same?
No. Symptoms vary widely and range from mild to severe. No two children have exactly the same combination of traits.
8. What does synophrys mean?
Synophrys is the medical term for highly arched eyebrows that usually meet in the middle — one of the most distinctive facial features of CdLS.
9. Can CdLS cause developmental delays?
Yes. Developmental delays are common, and most children with CdLS have moderate to severe intellectual disability.
10. Is CdLS related to autism?
Children with CdLS can show behavioral problems similar to autism spectrum disorder. ADHD and anxiety disorders are also possible.
11. Does CdLS affect growth?
Yes. Growth is slow both before and after birth, which can lead to short stature.
12. Can CdLS cause seizures?
Yes. Seizures can occur, and anticonvulsant medications are used to prevent or control them.
13. What heart problems can occur with CdLS?
Heart defects, such as a hole in the heart, can occur. Heart function should be monitored throughout life.
14. Does CdLS cause digestive problems?
Yes. GERD (chronic acid reflux) is common, and severe cases can lead to Barrett's esophagus. Other GI complications include duodenal atresia, malrotation, pyloric stenosis, inguinal hernia and congenital diaphragmatic hernia.
15. Can a baby be diagnosed with CdLS before birth?
Rarely, yes. Prenatal genetic testing can identify the gene mutations associated with the condition.
16. How is CdLS usually diagnosed?
Often at birth or shortly after, through a physical exam, symptom evaluation, and family history. Genetic testing may be used to verify the diagnosis, especially in mild cases.
17. Is there a cure for Cornelia de Lange syndrome?
No. Treatment addresses each child's specific symptoms.
18. What treatments help a child with CdLS?
High-calorie formulas or feeding tubes for growth, surgery for skeletal, GI, heart, palate or testicle issues, medications for seizures, behavior and infections, and ongoing physical, occupational, speech and psychotherapy.
19. What therapies should continue throughout life?
Physical therapy, occupational therapy, speech therapy and psychotherapy, along with lifelong monitoring of hearing, vision, growth, heart, kidney and GI function.
20. What is the life expectancy for CdLS?
Life expectancy is somewhat normal for most people with CdLS, and most children live well into adulthood. Heart and throat defects may decrease life expectancy.
21. Can CdLS be inherited?
Most people with CdLS have no family history of it. But if a parent has a mild form, the chance of passing it on could be as high as 50%. After one affected child of two unaffected parents, the chance of another is about 1% to 1.5%.
22. Can Cornelia de Lange syndrome be prevented?
No — it is a genetic condition. Parents planning a pregnancy can talk to their provider about genetic testing or counseling to understand risk.
23. Will my child with CdLS need adult care?
Adults with CdLS may need continuing medical care throughout their lives, and the outlook if complications develop depends on their severity and treatment.
24. What should I do if I suspect my child has CdLS?
Talk to your pediatrician. Ask about a referral to a geneticist and genetic testing, since mild cases can be mistaken for other conditions.
25. What is the most encouraging fact about CdLS?
Most children with CdLS lead full lives and live well into adulthood, supported by a team of specialists and therapies that continue throughout life.
External References
Cleveland Clinic — Cornelia de Lange Syndrome (medically reviewed; last updated July 12, 2023)
Genetic and Rare Diseases Information Center (GARD), NIH — Cornelia de Lange syndrome
National Organization for Rare Disorders (NORD) — Cornelia de Lange Syndrome
GeneReviews, University of Washington / NIH — Cornelia de Lange Syndrome
Disclaimer: This article is for general informational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always consult a qualified healthcare provider with questions about a medical condition. Never disregard professional medical advice or delay seeking care because of something you have read here.
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