Kabuki Syndrome in Babies
Medically reviewed by Dr. Michael Okonkwo, MD, FAAP · Board-Certified Neonatologist
Content reviewed against published NIH, NORD, NIH guidelines
Last reviewed:
If your baby has been diagnosed with or you suspect kabuki syndrome in babies, here is what the evidence says.
The short answer
Kabuki syndrome is a rare genetic disorder characterized by distinctive facial features (arched eyebrows with lateral flaring, long eyelid fissures, a depressed nasal tip, and prominent ears), skeletal anomalies, persistent fetal fingertip pads, intellectual disability, and short stature. It is caused by mutations in the KMT2D gene (most common) or KDM6A gene. Feeding difficulties are common in infancy, and cardiac defects occur in 30-80% of affected children. Early intervention, growth monitoring, and management of associated medical issues can significantly improve quality of life.
Key takeaways
- Kabuki syndrome is a rare genetic disorder characterized by distinctive facial features (arched eyebrows with lateral flaring, long eyelid fissures, a depressed nasal tip, and prominent ears), skeletal anomalies, persistent fetal fingertip pads, intellectual disability, and short stature. It is caused by mutations in the KMT2D gene (most common) or KDM6A gene. Feeding difficulties are common in infancy, and cardiac defects occur in 30-80% of affected children. Early intervention, growth monitoring, and management of associated medical issues can significantly improve quality of life.
- Usually normal when: Your baby has some features that resemble Kabuki syndrome descriptions but genetic testing is negative and development is on track
- Call your doctor if: Your baby with Kabuki syndrome has signs of a heart problem such as rapid breathing, poor feeding, sweating during feeds, or bluish color
- Varies by age — see the age-by-age breakdown below
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What Parents Should Know
According to NIH, NORD guidelines, kabuki syndrome is a rare genetic disorder characterized by distinctive facial features (arched eyebrows with lateral flaring, long eyelid fissures, a depressed nasal tip, and prominent ears), skeletal anomalies, persistent fetal fingertip pads, intellectual disability, and short stature. It is caused by mutations in the KMT2D gene (most common) or KDM6A gene. Feeding difficulties are common in infancy, and cardiac defects occur in 30-80% of affected children. Early intervention, growth monitoring, and management of associated medical issues can significantly improve quality of life. At 0-6 months, kabuki syndrome may be suspected at birth based on distinctive facial features, though diagnosis is often delayed because the features can be subtle in newborns. Feeding difficulties are very common and may include poor suck, gastroesophageal reflux, and failure to thrive. Hypotonia (low muscle tone) is present in most infants. A cardiac evaluation (echocardiogram) should be performed, as congenital heart defects including coarctation of the aorta, septal defects, and other anomalies occur in 30-80% of children. Genetic testing (KMT2D and KDM6A sequencing) confirms the diagnosis. It is generally considered normal when your baby has some features that resemble Kabuki syndrome descriptions but genetic testing is negative and development is on track. However, you should contact your pediatrician promptly if your baby with Kabuki syndrome has signs of a heart problem such as rapid breathing, poor feeding, sweating during feeds, or bluish color.
Normal vs. Concerning
When to Seek Immediate Care
- Your baby with Kabuki syndrome has signs of a heart problem such as rapid breathing, poor feeding, sweating during feeds, or bluish color
- Your baby is unable to feed adequately, is becoming dehydrated, or is losing weight
- Your child has a seizure, high fever with signs of serious infection, or becomes unresponsive
- Your child with known immune deficiency has signs of a severe infection (high fever, lethargy, difficulty breathing)
By Age
What to expect by age
0-6 months
Kabuki syndrome may be suspected at birth based on distinctive facial features, though diagnosis is often delayed because the features can be subtle in newborns. Feeding difficulties are very common and may include poor suck, gastroesophageal reflux, and failure to thrive. Hypotonia (low muscle tone) is present in most infants. A cardiac evaluation (echocardiogram) should be performed, as congenital heart defects including coarctation of the aorta, septal defects, and other anomalies occur in 30-80% of children. Genetic testing (KMT2D and KDM6A sequencing) confirms the diagnosis.
6-18 months
Motor milestones are typically delayed due to hypotonia. Feeding difficulties may continue and some infants need tube feeding temporarily. Recurrent infections, particularly ear infections and upper respiratory infections, are common because many children with Kabuki syndrome have immune deficiency (low immunoglobulin levels). Hearing should be assessed, as both conductive and sensorineural hearing loss can occur. Cleft palate or submucous cleft palate may be present and affect feeding and speech development.
18 months - 3 years
Developmental delays become more apparent, particularly in speech and language. Most children with Kabuki syndrome have mild to moderate intellectual disability, though the range is wide. Short stature often becomes noticeable. Joint hypermobility (loose joints) is common and may contribute to delayed walking. Kidney abnormalities (present in about 25-50%) should be screened with renal ultrasound if not already done. Early intervention services including speech therapy, physical therapy, and occupational therapy are beneficial.
3 years+
Children with Kabuki syndrome continue to make developmental progress with appropriate support. Many develop good social skills and have a friendly, sociable personality. Growth hormone deficiency should be evaluated if growth is significantly below expected. Dental abnormalities, including widely spaced teeth and missing teeth, are common. Scoliosis may develop and should be monitored. Seizures occur in about 10-25% of individuals. Many children attend school with varying levels of support and assistance.
What to Tell Your Pediatrician
- Describe when you first noticed kabuki syndrome 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 combined with feeding difficulties, hypotonia, or slow growth that concern you.
- Mention if your child with Kabuki syndrome is having frequent infections and you want to discuss immune function testing.
- 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 has some features that resemble Kabuki syndrome descriptions but genetic testing is negative and development is on track
- Your child with Kabuki syndrome is making steady developmental progress and feeding has improved
- Your child has arched eyebrows as an isolated familial feature without other signs of Kabuki syndrome
- Cardiac evaluation shows no heart defect or a minor defect that does not require intervention
- Your baby has distinctive facial features combined with feeding difficulties, hypotonia, or slow growth that concern you
- Your child with Kabuki syndrome is having frequent infections and you want to discuss immune function testing
- Your child with Kabuki syndrome is falling significantly behind on growth curves and may benefit from endocrine evaluation
- You want to discuss genetic testing, the diagnosis, or implications for family planning
- Your baby with Kabuki syndrome has signs of a heart problem such as rapid breathing, poor feeding, sweating during feeds, or bluish color
- Your baby is unable to feed adequately, is becoming dehydrated, or is losing weight
- Your child has a seizure, high fever with signs of serious infection, or becomes unresponsive
- Your child with known immune deficiency has signs of a severe infection (high fever, lethargy, difficulty breathing)
What You Can Do at Home
- Keep track of when you notice kabuki syndrome in babies — noting the time of day, duration, and any triggers can help your pediatrician.
- Remember that your baby has some features that resemble Kabuki syndrome descriptions but genetic testing is negative and development is on track — this is generally within the range of normal.
- At 0-6 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 with Kabuki syndrome has signs of a heart problem such as rapid breathing, poor feeding, sweating during feeds, or bluish color.
Related Conditions
Congenital Heart Defect Signs in Babies
Congenital heart defects (CHDs) are the most common type of birth defect, affecting about 1 in 100 babies. They range from small holes in the heart that may close on their own to complex defects requiring multiple surgeries. Early detection through pulse oximetry screening and recognizing key signs — such as blue skin, rapid breathing, poor feeding, and failure to gain weight — is critical. Advances in surgery have dramatically improved survival and quality of life.
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.
Related Resources
Frequently asked questions
Is kabuki syndrome in babies normal?
When should I call the doctor about kabuki syndrome in babies?
When is kabuki syndrome in babies normal?
What causes kabuki syndrome in babies?
What should I mention to my pediatrician about kabuki syndrome in babies?
Is kabuki syndrome in babies normal at 0-6 months?
Is kabuki syndrome in babies normal at 6-18 months?
Should I go to the ER for kabuki syndrome in babies?
Does kabuki syndrome in babies go away on its own?
References
Doctor Visit Checklist
Bring this checklist to your next pediatrician visit to discuss Kabuki Syndrome in Babies.
Things to mention
- Describe when you first noticed kabuki syndrome 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 combined with feeding difficulties, hypotonia, or slow growth that concern you.
- Mention if your child with Kabuki syndrome is having frequent infections and you want to discuss immune function testing.
- 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 combined with feeding difficulties, hypotonia, or slow growth that concern you
- Your child with Kabuki syndrome is having frequent infections and you want to discuss immune function testing
- Your child with Kabuki syndrome is falling significantly behind on growth curves and may benefit from endocrine evaluation
Urgent signs to report immediately
- Your baby with Kabuki syndrome has signs of a heart problem such as rapid breathing, poor feeding, sweating during feeds, or bluish color
- Your baby is unable to feed adequately, is becoming dehydrated, or is losing weight
- Your child has a seizure, high fever with signs of serious infection, or becomes unresponsive
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 kabuki syndrome in babies are normal. Talk to your pediatrician if your baby with kabuki syndrome has signs of a heart problem such as rapid breathing, poor feeding, sweating during feeds, or bluish color.
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
Congenital Heart Defect Signs in Babies
Congenital heart defects (CHDs) are the most common type of birth defect, affecting about 1 in 100 babies. They range from small holes in the heart that may close on their own to complex defects requiring multiple surgeries. Early detection through pulse oximetry screening and recognizing key signs — such as blue skin, rapid breathing, poor feeding, and failure to gain weight — is critical. Advances in surgery have dramatically improved survival and quality of life.
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.
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.