Cornelia de Lange Syndrome (CdLS) in Babies
Medically reviewed by Dr. Michael Okonkwo, MD, FAAP · Board-Certified Neonatologist
Content reviewed against published NIH, NIH, CdLS Foundation guidelines
Last reviewed:
If your baby has been diagnosed with or you suspect cornelia de lange syndrome (cdls) in babies, here is what the evidence says.
The short answer
Cornelia de Lange syndrome (CdLS) is a rare genetic developmental disorder affecting about 1 in 10,000 to 30,000 newborns, most often caused by mutations in the NIPBL gene (about 60% of cases) or related cohesin complex genes. It is characterized by distinctive facial features (arched eyebrows that often meet in the middle, long eyelashes, small upturned nose, thin downturned lips), growth restriction, limb anomalies ranging from small hands to missing forearms, and intellectual disability of variable severity. The condition has a wide spectrum, and individuals with milder forms may not be diagnosed until later in childhood.
Key takeaways
- Cornelia de Lange syndrome (CdLS) is a rare genetic developmental disorder affecting about 1 in 10,000 to 30,000 newborns, most often caused by mutations in the NIPBL gene (about 60% of cases) or related cohesin complex genes. It is characterized by distinctive facial features (arched eyebrows that often meet in the middle, long eyelashes, small upturned nose, thin downturned lips), growth restriction, limb anomalies ranging from small hands to missing forearms, and intellectual disability of variable severity. The condition has a wide spectrum, and individuals with milder forms may not be diagnosed until later in childhood.
- Usually normal when: Your baby with CdLS is making gradual developmental progress and is engaged with caregivers
- Call your doctor if: Your baby has bloody vomit or stool, which may indicate severe reflux complications or intestinal problems — seek immediate medical attention
- Varies by age — see the age-by-age breakdown below
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What Parents Should Know
According to NIH, CdLS Foundation guidelines, cornelia de Lange syndrome (CdLS) is a rare genetic developmental disorder affecting about 1 in 10,000 to 30,000 newborns, most often caused by mutations in the NIPBL gene (about 60% of cases) or related cohesin complex genes. It is characterized by distinctive facial features (arched eyebrows that often meet in the middle, long eyelashes, small upturned nose, thin downturned lips), growth restriction, limb anomalies ranging from small hands to missing forearms, and intellectual disability of variable severity. The condition has a wide spectrum, and individuals with milder forms may not be diagnosed until later in childhood. At 0-3 months, babies with CdLS are often small at birth (intrauterine growth restriction) and may have distinctive facial features recognizable to experienced clinicians: thin arched eyebrows that meet in the middle (synophrys), long eyelashes, a small upturned nose with anteverted nares, a long philtrum, thin downturned lips, and a small jaw (micrognathia). Limb anomalies range from subtle (small hands, short fifth fingers, single transverse palmar crease) to severe (missing forearms or fingers). Feeding difficulties with severe gastroesophageal reflux are very common and often the most challenging issue in early infancy. It is generally considered normal when your baby with CdLS is making gradual developmental progress and is engaged with caregivers. However, you should contact your pediatrician promptly if your baby has bloody vomit or stool, which may indicate severe reflux complications or intestinal problems — seek immediate medical attention.
Normal vs. Concerning
By Age
What to expect by age
0-3 months
Babies with CdLS are often small at birth (intrauterine growth restriction) and may have distinctive facial features recognizable to experienced clinicians: thin arched eyebrows that meet in the middle (synophrys), long eyelashes, a small upturned nose with anteverted nares, a long philtrum, thin downturned lips, and a small jaw (micrognathia). Limb anomalies range from subtle (small hands, short fifth fingers, single transverse palmar crease) to severe (missing forearms or fingers). Feeding difficulties with severe gastroesophageal reflux are very common and often the most challenging issue in early infancy.
1-6 months
Feeding difficulties and reflux often dominate this period. Many babies with CdLS have poor growth and may need specialized feeding support, anti-reflux medications, and sometimes surgical interventions for severe reflux. Excessive body hair (hirsutism) may be noticeable. Low muscle tone and slow development are common. Hearing should be tested early, as hearing loss occurs in about 80% of individuals with CdLS. Heart defects are present in about 25% of cases and require cardiac evaluation.
6-12 months
Developmental delays become more apparent, with delayed sitting, reaching, and babbling. The severity varies greatly depending on the type of mutation and degree of involvement. Children with milder CdLS may have borderline to mild intellectual disability, while those with classic CdLS typically have moderate to severe delays. Behavioral features may begin to emerge, including self-injurious behavior (particularly in the setting of untreated pain from reflux) and preference for routine.
1-3 years
Children with CdLS continue to develop at their own pace. Walking may be delayed (average around 2-3 years in moderate cases). Speech development is significantly delayed, and many children benefit from sign language or AAC. Behavioral characteristics become more apparent, including anxiety in new situations, preference for predictable routines, and possible self-injurious behaviors. Treating underlying pain (reflux, dental issues, ear infections) often significantly improves behavior. Growth remains slow, and CdLS-specific growth charts should be used.
What to Tell Your Pediatrician
- Describe when you first noticed cornelia de lange syndrome (cdls) in babies and how it has changed over time.
- Note your baby's current age and which age-specific patterns you are seeing.
- Mention if your baby has distinctive facial features, small size, and limb differences that have not been evaluated for CdLS.
- Mention if your baby with CdLS has persistent vomiting, feeding refusal, or poor weight gain that may indicate severe reflux.
- Let your doctor know if you have noticed any related concerns, such as changes in feeding, sleep, or movement patterns.
- Bring a list of any questions or observations you want to discuss at the appointment.
What Should You Do?
When to take action
- Your baby with CdLS is making gradual developmental progress and is engaged with caregivers
- Your baby's reflux is being managed and feeding is improving
- Your baby's heart defect (if present) is stable and being monitored
- Your child is communicating through signs, gestures, or AAC and is responsive to therapy
- Your baby has distinctive facial features, small size, and limb differences that have not been evaluated for CdLS
- Your baby with CdLS has persistent vomiting, feeding refusal, or poor weight gain that may indicate severe reflux
- Your child with CdLS is showing self-injurious behavior, which may indicate untreated pain
- You want to discuss genetic testing or genetic counseling for your family
- Your baby has bloody vomit or stool, which may indicate severe reflux complications or intestinal problems — seek immediate medical attention
- Your baby has breathing difficulties, blue color, or signs of a heart problem requiring emergency evaluation
What You Can Do at Home
- Keep track of when you notice cornelia de lange syndrome (cdls) in babies — noting the time of day, duration, and any triggers can help your pediatrician.
- Remember that your baby with CdLS is making gradual developmental progress and is engaged with caregivers — this is generally within the range of normal.
- At 0-3 months, focus on observation rather than intervention unless your pediatrician advises otherwise.
- Follow any care instructions from your pediatrician. Keep a written log of symptoms to bring to appointments.
- While monitoring at home, seek immediate care if your baby has bloody vomit or stool, which may indicate severe reflux complications or intestinal problems — seek immediate medical attention.
Related Conditions
Baby Not Growing Fast Enough - Failure to Thrive
Slow weight gain (falling across percentile lines on the growth chart) can have many causes, ranging from simple (not getting enough calories, growth pattern recalibration) to medical (feeding difficulties, food allergies, malabsorption, or underlying conditions). "Failure to thrive" is a clinical term for weight that falls below the 2nd percentile or drops across two major percentile lines. The most common cause is insufficient caloric intake - the baby is not eating enough, not absorbing enough, or burning too many calories. Early evaluation is important because nutrition affects brain development.
Intrauterine Growth Restriction (IUGR)
Intrauterine growth restriction (IUGR) means a baby is growing slower than expected in the womb, typically measuring below the 10th percentile for gestational age. Many small babies are simply constitutionally small and perfectly healthy. When IUGR is caused by placental or other issues, close monitoring and timely delivery planning help ensure the best outcomes.
Related Resources
Growth Percentile Calculator
Plot your baby's weight, length, and head circumference on WHO/CDC growth charts.
Month-by-Month Development
Detailed monthly development guides from birth through 24 months.
When to Call the Doctor
General guide on when to call the pediatrician, visit urgent care, or go to the ER.
Frequently asked questions
Is cornelia de lange syndrome (cdls) in babies normal?
When should I call the doctor about cornelia de lange syndrome (cdls) in babies?
When is cornelia de lange syndrome (cdls) in babies normal?
What causes cornelia de lange syndrome (cdls) in babies?
What should I mention to my pediatrician about cornelia de lange syndrome (cdls) in babies?
Is cornelia de lange syndrome (cdls) in babies normal at 0-3 months?
Is cornelia de lange syndrome (cdls) in babies normal at 1-6 months?
Should I go to the ER for cornelia de lange syndrome (cdls) in babies?
Does cornelia de lange syndrome (cdls) in babies go away on its own?
References
- [1]National Library of Medicine. Cornelia de Lange Syndrome. GeneReviews, 2023. NIH
- [2]National Library of Medicine. Cornelia de Lange Syndrome. MedlinePlus Genetics, 2023. NIH
- [3]Cornelia de Lange Syndrome Foundation. About CdLS: Information for Families. CdLS Foundation, 2024. CdLS Foundation
Doctor Visit Checklist
Bring this checklist to your next pediatrician visit to discuss Cornelia de Lange Syndrome (CdLS) in Babies.
Things to mention
- Describe when you first noticed cornelia de lange syndrome (cdls) in babies and how it has changed over time.
- Note your baby's current age and which age-specific patterns you are seeing.
- Mention if your baby has distinctive facial features, small size, and limb differences that have not been evaluated for CdLS.
- Mention if your baby with CdLS has persistent vomiting, feeding refusal, or poor weight gain that may indicate severe reflux.
- Let your doctor know if you have noticed any related concerns, such as changes in feeding, sleep, or movement patterns.
- Bring a list of any questions or observations you want to discuss at the appointment.
Observations to share
- Your baby has distinctive facial features, small size, and limb differences that have not been evaluated for CdLS
- Your baby with CdLS has persistent vomiting, feeding refusal, or poor weight gain that may indicate severe reflux
- Your child with CdLS is showing self-injurious behavior, which may indicate untreated pain
Urgent signs to report immediately
- Your baby has bloody vomit or stool, which may indicate severe reflux complications or intestinal problems — seek immediate medical attention
- Your baby has breathing difficulties, blue color, or signs of a heart problem requiring emergency evaluation
My notes
From ismybabyalright.com — free, evidence-based baby health guides
All content follows our editorial policy and is reviewed against published clinical guidelines.
2,705 evidence-based guides6 authoritative medical sources5 medical advisory board members
Related Resources
Bottom line
Most cases of cornelia de lange syndrome (cdls) in babies are normal. Talk to your pediatrician if your baby has bloody vomit or stool, which may indicate severe reflux complications or intestinal problems — seek immediate medical attention.
Trust your instincts. If something feels wrong, reach out to your pediatrician. Worrying about your baby means you care — that is a good thing.
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Related Medical Concerns
Baby Not Growing Fast Enough - Failure to Thrive
Slow weight gain (falling across percentile lines on the growth chart) can have many causes, ranging from simple (not getting enough calories, growth pattern recalibration) to medical (feeding difficulties, food allergies, malabsorption, or underlying conditions). "Failure to thrive" is a clinical term for weight that falls below the 2nd percentile or drops across two major percentile lines. The most common cause is insufficient caloric intake - the baby is not eating enough, not absorbing enough, or burning too many calories. Early evaluation is important because nutrition affects brain development.
Intrauterine Growth Restriction (IUGR)
Intrauterine growth restriction (IUGR) means a baby is growing slower than expected in the womb, typically measuring below the 10th percentile for gestational age. Many small babies are simply constitutionally small and perfectly healthy. When IUGR is caused by placental or other issues, close monitoring and timely delivery planning help ensure the best outcomes.
My Baby's Head Shape Looks Abnormal
Many babies develop temporary head shape irregularities that are completely normal. A cone-shaped head from vaginal delivery reshapes within days. Mild positional flattening (plagiocephaly) from sleeping on the back is very common and usually improves with repositioning and tummy time. However, head shape changes involving ridges, a persistently bulging fontanelle, or rapid head growth changes should be evaluated to rule out craniosynostosis.
Achondroplasia (Dwarfism) in Babies
Achondroplasia is the most common form of short-limbed dwarfism, affecting about 1 in 15,000 to 40,000 births. It is caused by a mutation in the FGFR3 gene and is usually apparent at birth with characteristic features including short limbs, a larger head, and a prominent forehead. Intelligence is normal. With monitoring for specific complications and supportive care, children with achondroplasia lead full, active, and independent lives.
Adenoid Hypertrophy and Breathing
Adenoids are lymphoid tissue located behind the nose that help fight infection in young children. When adenoids become enlarged (adenoid hypertrophy), they can block the nasal airway, causing chronic mouth breathing, snoring, nasal speech, and sleep-disordered breathing. Enlarged adenoids are most common between ages 2-7 and are a leading cause of obstructive sleep apnea in young children. Treatment ranges from watchful waiting and nasal steroids to surgical removal (adenoidectomy) if breathing or sleep is significantly affected.
Adrenoleukodystrophy (ALD) in Babies
X-linked adrenoleukodystrophy (X-ALD) is a genetic disorder affecting about 1 in 17,000 newborns, caused by mutations in the ABCD1 gene on the X chromosome. It primarily affects boys and impairs the breakdown of very long-chain fatty acids (VLCFAs), which accumulate and damage the myelin sheath in the brain and the adrenal glands. The most severe form, cerebral ALD, typically affects boys between ages 4-10 with rapid neurological decline. Newborn screening now enables early detection, and hematopoietic stem cell transplant or gene therapy performed before significant brain involvement can be life-saving.