What Is Cornelia de Lange Syndrome?

Written by Medicover Team and Medically Reviewed by Dr Vuppala Subbarao , Pediatricians

Cornelia de Lange Syndrome (CdLS) is a rare genetic disorder that impacts physical, cognitive, and behavioral development. It commonly affects growth, facial features, limbs, and multiple systems, including the heart and digestive tract.

Symptoms range from mild to severe, requiring early intervention for better outcomes. Appropriate management can improve quality of life and minimise complications.

What are the Cornelia de Lange Syndrome Symptoms and Warning Signs?

A wide range of physical, developmental, and behavioural symptoms characterises Cornelia de Lange Syndrome (CdLS).

Early detection improves outcomes, so recognising key signs is crucial. Below are common and severe symptoms to watch for.

Common Symptoms of Cornelia de Lange Syndrome

Distinct facial features (thin eyebrows, long eyelashes, small nose, downturned mouth)
Slow growth (low birth weight, short stature)
Developmental delays (speech, motor skills, learning difficulties)
Feeding problems (difficulty swallowing, reflux)
Behavioral challenges (autism-like traits, anxiety, self-stimulation)

Severe Symptoms of Cornelia de Lange Syndrome

Limb differences (missing fingers, small hands/feet)
Heart defects (septal defects, valve abnormalities)
Gastrointestinal issues (chronic reflux, bowel obstructions)
Hearing and vision problems (partial deafness, severe myopia)
Seizures (in some cases)

What are the Common Causes and Risk Factors of Cornelia de Lange Syndrome?

Cornelia de Lange Syndrome (CdLS) is a rare genetic disorder and is mainly associated with gene mutations. Unfortunately, the precise causes of disease in children are not always clear.

Understanding its origins and risk factors can help families seek timely medical advice. Below, we break down the known causes and potential risk elements.

Cornelia de Lange Syndrome Causes

Genetic mutations: Most cases (about 60-70%) are linked to mutations in the NIPBL gene, which plays a role in development.
Other gene defects: Less commonly, mutations in SMC1A, SMC3, HDAC8, or RAD21 can cause CdLS.
Inheritance patterns: While usually not inherited, some forms (like X-linked SMC1A mutations) can pass from mother to child.

Cornelia de Lange Syndrome Risk Factors

Family history: Rarely, a parent carrying a mutation may pass it on.
Spontaneous mutations: Most cases occur randomly (de novo) with no family link.
No known environmental or lifestyle triggers: Unlike some disorders, CdLS isn't caused by pregnancy factors, diet, or toxins.

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How is Cornelia de Lange Syndrome (CdLS) Diagnosed?

Cornelia de Lange Syndrome can be diagnosed based on clinical evaluation, genetic testing, and a variety of specialised tests.

Symptoms are so diverse that an accurate diagnosis coincides with adequate care and support.

Diagnostic Tests for Cornelia de Lange Syndrome

Genetic Testing: The most definitive method, checking for mutations in NIPBL, SMC1A, HDAC8, and related genes.
Physical Examination: Assessing distinct facial features, growth delays, and limb differences.
Developmental and Behavioral Assessments: Evaluating speech, motor skills, and cognitive function.
Imaging Scans: X-rays or ultrasounds to detect bone abnormalities, heart defects, or digestive issues.
Hearing and Vision Tests: Identifying potential sensory impairments linked to CdLS.

At Medicover Hospitals, our expert geneticists and pediatric specialists use advanced techniques to confirm CdLS and guide personalised treatment.

What are the Treatment Options for Cornelia de Lange Syndrome?

Cornelia de Lange Syndrome (CdLS) is a lifelong condition, but early intervention and tailored care can significantly improve quality of life.

While there's no cure, treatments focus on managing symptoms, supporting development, and preventing complications. Available Treatments for CdLS:

Medical Therapies and Medications

Gastroesophageal Reflux (GERD) Management: Acid reducers (like PPIs) and specialised feeding plans.
Seizure Control: Anti-epileptic drugs (AEDs) if neurological symptoms are present.
Hormone Therapy: Growth hormone treatment for severe short stature (in select cases).

Surgical Interventions

Corrective Surgeries: For cleft palate, heart defects, or limb differences.
Feeding Tube Placement: If oral feeding is unsafe due to swallowing difficulties.
Hearing/Vision Corrections: Cochlear implants, glasses, or other aids.

Developmental and Supportive Therapies

Physical and Occupational Therapy: Improves motor skills and independence.
Speech Therapy: Helps with communication delays.
Behavioral Therapy: Supports anxiety, ADHD, or autism-like traits.

Recovery and Long-Term Care

Timelines vary: Some children show progress in months, while others need years of therapy.
Regular follow-ups: Are crucial to adjust treatments as the child grows.

At Medicover Hospitals, our multidisciplinary team creates personalised care plans for each patient's unique needs.

When to See a Doctor for Cornelia de Lange Syndrome (CdLS)?

If your child shows early signs of Cornelia de Lange Syndrome (CdLS), don't wait early medical intervention makes a big difference.

While there's no cure yet, doctors can treat symptoms to improve development and prevent complications.

Seek Immediate Medical Advice If Your Child Has

Feeding difficulties (choking, severe reflux, or failure to gain weight)
Delayed milestones (not sitting, walking, or speaking at expected ages)
Distinct facial features (thin eyebrows, small nose, downturned mouth)
Limb differences (missing fingers or small hands/feet)
Seizures or breathing problems (requires urgent care)

High-Risk Groups Needing Early Consultation

Babies born with low birth weight + unusual facial features
Children with severe developmental delays + behavioral challenges
Families with a history of genetic disorders

Genetic testing and specialist care should begin as soon as CdLS is suspected.

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What is the Recovery Process After CdLS Treatment?

Since CdLS is a lifelong condition, recovery focuses on managing symptoms and maximising independence. Treatment outcomes vary, but consistent care helps children thrive.

Post-Treatment Expectations

Follow-Up Schedule:

Every 3-6 months for developmental checkups
Annual heart, hearing, and vision screenings
Regular therapy sessions (speech, physical, occupational)

Lifestyle and Diet Recommendations:

Soft or pureed foods if swallowing is difficult
Small, frequent meals to manage reflux
Physical activity tailored to mobility levels

Long-Term Outlook:

Many children learn to communicate and gain mobility with therapy
Behavioral support helps with anxiety or social challenges
Some may need lifelong assistance, but quality of life can improve

Medicover's Ongoing Support Services:

Specialist follow-ups (geneticists, pediatric neurologists)
Therapy programs (speech, motor skills, behavior)
Parent counseling and support groups

Early and consistent care gives the best results. If your child has CdLS, work closely with specialists for long-term success.

What Precautions Can Help Prevent Cornelia de Lange Syndrome?

Since CdLS is a genetic disorder, it cannot be entirely prevented.

However, these steps help manage risks

Genetic Counseling: Recommended for families with a history of CdLS before pregnancy.
Prenatal Testing: If CdLS is suspected, amniocentesis or chorionic villus sampling (CVS) can provide early detection.
Developmental Screenings: Regular pediatric checkups to catch delays early.

Potential Complications if Untreated

Severe growth delays (short stature, low weight)
Heart and digestive problems (unmanaged GERD, bowel obstructions)
Behavioral and cognitive challenges (without therapy, social skills may lag)
Hearing and vision loss (if not monitored and corrected)

Early intervention reduces risks and improves long-term outcomes.

Our Experience Treating Cornelia de Lange Syndrome

At Medicover, we understand the challenges families face with CdLS. Our team of geneticists, pediatricians, and therapists works together to provide compassionate, personalised care, helping each child reach their fullest potential.

With advanced diagnostics and therapies, we support every step of your journey.

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