Rubinstein-Taybi 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 rubinstein-taybi syndrome in babies, here is what the evidence says.
The short answer
Rubinstein-Taybi syndrome (RTS) is a rare genetic condition characterized by broad thumbs and big toes, distinctive facial features, short stature, and intellectual disability. It is caused by mutations in the CREBBP gene (most common) or EP300 gene and occurs in about 1 in 100,000 to 125,000 births. Feeding difficulties are common in infancy. Children with RTS have a slightly increased risk of certain tumors, and there are important anesthesia considerations. With early intervention and supportive care, children with RTS can make meaningful developmental progress and lead fulfilling lives.
Key takeaways
- Rubinstein-Taybi syndrome (RTS) is a rare genetic condition characterized by broad thumbs and big toes, distinctive facial features, short stature, and intellectual disability. It is caused by mutations in the CREBBP gene (most common) or EP300 gene and occurs in about 1 in 100,000 to 125,000 births. Feeding difficulties are common in infancy. Children with RTS have a slightly increased risk of certain tumors, and there are important anesthesia considerations. With early intervention and supportive care, children with RTS can make meaningful developmental progress and lead fulfilling lives.
- Usually normal when: Your baby has slightly wide thumbs as a familial trait with no other features of RTS and normal development
- Call your doctor if: Your baby with RTS has severe feeding difficulties, is losing weight, or shows signs of dehydration
- Varies by age — see the age-by-age breakdown below
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What Parents Should Know
According to NIH, NORD guidelines, rubinstein-Taybi syndrome (RTS) is a rare genetic condition characterized by broad thumbs and big toes, distinctive facial features, short stature, and intellectual disability. It is caused by mutations in the CREBBP gene (most common) or EP300 gene and occurs in about 1 in 100,000 to 125,000 births. Feeding difficulties are common in infancy. Children with RTS have a slightly increased risk of certain tumors, and there are important anesthesia considerations. With early intervention and supportive care, children with RTS can make meaningful developmental progress and lead fulfilling lives. At 0-6 months, rTS may be suspected at birth based on the characteristic broad, angulated thumbs and broad big toes, along with distinctive facial features including arched eyebrows, long eyelashes, downslanting palpebral fissures, a beaked nose, and a broad nasal bridge. Many newborns have significant feeding difficulties due to poor suck, high-arched or cleft palate, and gastroesophageal reflux. Constipation is very common from early infancy. Undescended testes occur in most males. Diagnosis is confirmed by genetic testing of CREBBP and EP300 genes. It is generally considered normal when your baby has slightly wide thumbs as a familial trait with no other features of RTS and normal development. However, you should contact your pediatrician promptly if your baby with RTS has severe feeding difficulties, is losing weight, or shows signs of dehydration.
Normal vs. Concerning
When to Seek Immediate Care
- Your baby with RTS has severe feeding difficulties, is losing weight, or shows signs of dehydration
- Your baby has signs of a heart problem such as rapid breathing, poor feeding, sweating during feeds, or bluish color
- Your child has signs of bowel obstruction such as bile-stained vomiting, severe abdominal distension, or absence of stool
- Your child has a new rapidly growing lump, unexplained bruising, prolonged fevers, or bone pain (possible tumor)
By Age
What to expect by age
0-6 months
RTS may be suspected at birth based on the characteristic broad, angulated thumbs and broad big toes, along with distinctive facial features including arched eyebrows, long eyelashes, downslanting palpebral fissures, a beaked nose, and a broad nasal bridge. Many newborns have significant feeding difficulties due to poor suck, high-arched or cleft palate, and gastroesophageal reflux. Constipation is very common from early infancy. Undescended testes occur in most males. Diagnosis is confirmed by genetic testing of CREBBP and EP300 genes.
6-18 months
Growth remains below typical curves, and RTS-specific growth charts are available. Motor milestones are delayed, with most children sitting independently around 12 months. Feeding difficulties may improve but constipation typically persists and requires ongoing management. Eye abnormalities including strabismus (crossed eyes), refractive errors, and blocked tear ducts should be evaluated by an ophthalmologist. Congenital heart defects are present in about one-third of cases and require cardiac evaluation.
18 months - 3 years
Walking is typically achieved between 2-4 years. Speech is significantly delayed, and many children benefit from sign language or augmentative communication while verbal skills develop. Intellectual disability ranges from moderate to severe, though many children have a cheerful, social personality with a good sense of humor. Recurrent respiratory infections and ear infections are common. Dental abnormalities including crowded teeth and talon cusps may be noted as teeth emerge.
3 years+
Children continue to develop at their own pace with appropriate support. The increased tumor risk (particularly pilomatrixomas, brain tumors such as meningiomas, and certain leukemias) requires awareness and monitoring, though the overall risk remains low. Anesthesia carries specific risks in RTS, including difficult intubation and cardiac arrhythmias, so any planned procedures should involve an anesthesiologist familiar with the condition. Obesity can become a concern as children age. Behavioral features may include mood lability and attention difficulties.
What to Tell Your Pediatrician
- Describe when you first noticed rubinstein-taybi 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 broad thumbs and big toes combined with feeding difficulties, distinctive facial features, or slow growth.
- Mention if your child with RTS has chronic constipation that is not responding to standard treatments.
- 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 slightly wide thumbs as a familial trait with no other features of RTS and normal development
- Genetic testing for RTS was performed and came back negative
- Your child with RTS is making steady developmental progress and medical issues are well-managed
- Your child with RTS had a cardiac evaluation that showed no heart defect or a minor finding that is being monitored
- Your baby has broad thumbs and big toes combined with feeding difficulties, distinctive facial features, or slow growth
- Your child with RTS has chronic constipation that is not responding to standard treatments
- Your child with RTS is developing new lumps or bumps (need to be evaluated for pilomatrixomas or other tumors)
- You need guidance on anesthesia precautions for an upcoming procedure or surgery
- Your baby with RTS has severe feeding difficulties, is losing weight, or shows signs of dehydration
- Your baby has signs of a heart problem such as rapid breathing, poor feeding, sweating during feeds, or bluish color
- Your child has signs of bowel obstruction such as bile-stained vomiting, severe abdominal distension, or absence of stool
- Your child has a new rapidly growing lump, unexplained bruising, prolonged fevers, or bone pain (possible tumor)
What You Can Do at Home
- Keep track of when you notice rubinstein-taybi syndrome in babies — noting the time of day, duration, and any triggers can help your pediatrician.
- Remember that your baby has slightly wide thumbs as a familial trait with no other features of RTS and normal development — 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 RTS has severe feeding difficulties, is losing weight, or shows signs of dehydration.
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.
Signs of Failure to Thrive in Babies
Failure to thrive (now often called growth faltering) refers to a baby or child who is not gaining weight as expected. It is typically defined as weight falling below the 2nd percentile, or crossing down two or more major percentile lines on the growth chart. While it sounds alarming, most cases are related to feeding difficulties, inadequate calorie intake, or transient illness, and can be successfully treated. Early identification and intervention are important for optimal outcomes.
Related Resources
Frequently asked questions
Is rubinstein-taybi syndrome in babies normal?
When should I call the doctor about rubinstein-taybi syndrome in babies?
When is rubinstein-taybi syndrome in babies normal?
What causes rubinstein-taybi syndrome in babies?
What should I mention to my pediatrician about rubinstein-taybi syndrome in babies?
Is rubinstein-taybi syndrome in babies normal at 0-6 months?
Is rubinstein-taybi syndrome in babies normal at 6-18 months?
Should I go to the ER for rubinstein-taybi syndrome in babies?
Does rubinstein-taybi syndrome in babies go away on its own?
References
- [1]National Institutes of Health. Rubinstein-Taybi Syndrome. Genetic and Rare Diseases Information Center (GARD). NIH
- [2]National Organization for Rare Disorders. Rubinstein-Taybi Syndrome. NORD Rare Disease Database. NORD
- [3]Stevens CA. Rubinstein-Taybi Syndrome. GeneReviews, National Library of Medicine, 2023. NIH
Doctor Visit Checklist
Bring this checklist to your next pediatrician visit to discuss Rubinstein-Taybi Syndrome in Babies.
Things to mention
- Describe when you first noticed rubinstein-taybi 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 broad thumbs and big toes combined with feeding difficulties, distinctive facial features, or slow growth.
- Mention if your child with RTS has chronic constipation that is not responding to standard treatments.
- 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 broad thumbs and big toes combined with feeding difficulties, distinctive facial features, or slow growth
- Your child with RTS has chronic constipation that is not responding to standard treatments
- Your child with RTS is developing new lumps or bumps (need to be evaluated for pilomatrixomas or other tumors)
Urgent signs to report immediately
- Your baby with RTS has severe feeding difficulties, is losing weight, or shows signs of dehydration
- Your baby has signs of a heart problem such as rapid breathing, poor feeding, sweating during feeds, or bluish color
- Your child has signs of bowel obstruction such as bile-stained vomiting, severe abdominal distension, or absence of stool
My notes
From ismybabyalright.com — free, evidence-based baby health guides
All content follows our editorial policy and is reviewed against published clinical guidelines.
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Related Resources
Bottom line
Most cases of rubinstein-taybi syndrome in babies are normal. Talk to your pediatrician if your baby with rts has severe feeding difficulties, is losing weight, or shows signs of dehydration.
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.
Signs of Failure to Thrive in Babies
Failure to thrive (now often called growth faltering) refers to a baby or child who is not gaining weight as expected. It is typically defined as weight falling below the 2nd percentile, or crossing down two or more major percentile lines on the growth chart. While it sounds alarming, most cases are related to feeding difficulties, inadequate calorie intake, or transient illness, and can be successfully treated. Early identification and intervention are important for optimal 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.