National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Rubinstein-Taybi syndrome

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Other Names:
Rubinstein syndrome; Broad thumbs and great toes, characteristic facies, and mental retardation; RSTS; Rubinstein syndrome; Broad thumbs and great toes, characteristic facies, and mental retardation; RSTS; Broad thumb-hallux syndrome; Broad thumbs-halluces syndrome See More
Rubinstein-Taybi syndrome (RTS) is a syndrome characterized by broad thumbs and toes, short stature, distinctive facial features, and varying degrees of intellectual disability. The syndrome may be caused by a mutation in the CREBBP or EP300 gene, or as the result of a very small loss (microdeletion) of genetic material from the short (p) arm of chromosome 16. In some people with RTS, the cause is unknown. While RTS can be inherited in an autosomal dominant manner, most cases result from a new (de novo) mutation in the responsible gene and are not inherited from a parent. Treatment is symptomatic and supportive.[1][2][3]
Last updated: 5/29/2017

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Showing of 140 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Brachydactyly
Short fingers or toes
0001156
Broad hallux phalanx
Broad bone of big toe
Wide bone of big toe
[ more ] 		0010059
Broad thumb
Broad thumbs
Wide/broad thumb
[ more ] 		0011304
Convex nasal ridge
Beaked nose
Beaklike protrusion
Hooked nose
Polly beak nasal deformity
[ more ] 		0000444
Downslanted palpebral fissures
Downward slanting of the opening between the eyelids
0000494
Failure to thrive in infancy
Faltering weight in infancy
Weight faltering in infancy
[ more ] 		0001531
Feeding difficulties in infancy 0008872
Global developmental delay 0001263
High palate
Elevated palate
Increased palatal height
[ more ] 		0000218
Hypertelorism
Wide-set eyes
Widely spaced eyes
[ more ] 		0000316
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] 		0001249
Joint hyperflexibility
Joints move beyond expected range of motion
0005692
Low-set ears
Low set ears
Lowset ears
[ more ] 		0000369
Short stature
Decreased body height
Small stature
[ more ] 		0004322
Telecanthus
Corners of eye widely separated
0000506
30%-79% of people have these symptoms
Abnormal distal phalanx morphology of finger
Abnormality of the outermost finger bone
0009832
Abnormality of cardiovascular system morphology 0030680
Anxiety
Excessive, persistent worry and fear
0000739
Attention deficit hyperactivity disorder
Attention deficit
Attention deficit disorder
Attention deficit-hyperactivity disorder
Attention deficits
Childhood attention deficit/hyperactivity disorder
[ more ] 		0007018
Carious teeth
Dental cavities
Tooth cavities
Tooth decay
[ more ] 		0000670
Clinodactyly of the 5th finger
Permanent curving of the pinkie finger
0004209
Clubbing of toes 0100760
Constipation 0002019
Cryptorchidism
Undescended testes
Undescended testis
[ more ] 		0000028
Epicanthus
Eye folds
Prominent eye folds
[ more ] 		0000286
Generalized hirsutism
Excessive hairiness over body
0002230
Glaucoma 0000501
Highly arched eyebrow
Arched eyebrows
Broad, arched eyebrows
High, rounded eyebrows
High-arched eyebrows
Thick, flared eyebrows
[ more ] 		0002553
Irritability
Irritable
0000737
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] 		0000252
Micrognathia
Little lower jaw
Small jaw
Small lower jaw
[ more ] 		0000347
Nasolacrimal duct obstruction
Blocked tear duct
0000579
Respiratory insufficiency
Respiratory impairment
0002093
Strabismus
Cross-eyed
Squint
Squint eyes
[ more ] 		0000486
Wide nasal bridge
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge
[ more ] 		0000431
5%-29% of people have these symptoms
Capillary hemangioma
Strawberry birthmark
0005306
Finger syndactyly 0006101
Hearing impairment
Deafness
Hearing defect
[ more ] 		0000365
Hip dysplasia 0001385
Keloids 0010562
Polyhydramnios
High levels of amniotic fluid
0001561
Ptosis
Drooping upper eyelid
0000508
Seizure 0001250
Percent of people who have these symptoms is not available through HPO
Abnormal cornea morphology 0000481
Abnormal number of teeth
Abnormal tooth count
0006483
Abnormality of refraction 0000539
Abnormality of the cervical spine
Abnormal cervical spine
0003319
Abnormality of the kidney
Abnormal kidney
0000077
Abnormality of the pinna
Abnormally shaped ears
Auricular malformation
Deformed ears
Malformed ears
[ more ] 		0000377
Aganglionic megacolon
Enlarged colon lacking nerve cells
0002251
Agenesis of corpus callosum 0001274
Agoraphobia
Fear of open spaces
0000756
Arrhythmia
Abnormal heart rate
Heart rhythm disorders
Irregular heart beat
Irregular heartbeat
[ more ] 		0011675
Atrial septal defect
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers
[ more ] 		0001631
Autism 0000717
Autosomal dominant inheritance 0000006
Avascular necrosis of the capital femoral epiphysis 0005743
Bifid uterus 0000136
Bimanual synkinesia
Hand mirror movements
Mirror hand movements
Mirror movements
[ more ] 		0001335
Broad hallux
Broad big toe
Wide big toe
[ more ] 		0010055
Cafe-au-lait spot 0000957
Cataract
Clouding of the lens of the eye
Cloudy lens
[ more ] 		0000518
Chorioretinal dystrophy 0001135
Coloboma
Notched pupil
0000589
Deeply set eye
Deep set eye
Deep-set eyes
Sunken eye
[ more ] 		0000490
Delayed cranial suture closure 0000270
Delayed skeletal maturation
Delayed bone maturation
Delayed skeletal development
[ more ] 		0002750
Delayed speech and language development
Deficiency of speech development
Delayed language development
Delayed speech
Delayed speech acquisition
Delayed speech development
Impaired speech and language development
Impaired speech development
Language delay
Language delayed
Language development deficit
Late-onset speech development
Poor language development
Speech and language delay
Speech and language difficulties
Speech delay
[ more ] 		0000750
Dental crowding
Crowded teeth
Dental overcrowding
Overcrowding of teeth
[ more ] 		0000678
Dental malocclusion
Bad bite
Malalignment of upper and lower dental arches
Misalignment of upper and lower dental arches
[ more ] 		0000689
Deviated nasal septum
Crooked nasal septum
Crooked septum of nose
Deviated septum of nose
[ more ] 		0004411
Dislocated radial head 0003083
Duane anomaly 0009921
Duplication of phalanx of hallux
Duplication of big toe bone
Duplication of great toes
[ more ] 		0010066
EEG abnormality 0002353
Facial grimacing 0000273
Failure to thrive
Faltering weight
Weight faltering
[ more ] 		0001508
Flared iliac wings 0002869
Flexion contracture
Flexed joint that cannot be straightened
0001371
Frontal bossing 0002007
Frontal upsweep of hair
Cowlick
Frontal Cowlick
Upswept frontal hair
[ more ] 		0002236
Generalized hypotonia
Decreased muscle tone
Low muscle tone
[ more ] 		0001290
High axial triradius 0001042
Hirsutism
Excessive hairiness
0001007
Hyperactivity
More active than typical
0000752
Hyperreflexia
Increased reflexes
0001347
Hypoplasia of dental enamel
Underdeveloped teeth enamel
0006297
Hypoplasia of the maxilla
Decreased size of maxilla
Decreased size of upper jaw
Maxillary deficiency
Maxillary retrusion
Small maxilla
Small upper jaw
Small upper jaw bones
Upper jaw deficiency
Upper jaw retrusion
[ more ] 		0000327
Hypoplastic iliac wing 0002866
Hypospadias 0000047
Impulsivity
Impulsive
0100710
Joint hypermobility
Double-Jointed
Flexible joints
Increased mobility of joints
[ more ] 		0001382
Joint laxity
Joint instability
Lax joints
Loose-jointedness
Loosejointedness
[ more ] 		0001388
Large foramen magnum
Big foramen magnum
0002700
Laryngomalacia
Softening of voice box tissue
0001601
Leukemia 0001909
Long eyelashes
Increased length of eyelashes
Unusually long eyelashes
[ more ] 		0000527
Low anterior hairline
Low frontal hairline
Low-set frontal hairline
[ more ] 		0000294
Low hanging columella 0009765
Low posterior hairline
Low hairline at back of neck
0002162
Muscular hypotonia
Low or weak muscle tone
0001252
Narrow mouth
Small mouth
0000160
Narrow palate
Narrow roof of mouth
0000189
Obstructive sleep apnea 0002870
Papillary cystadenoma of the epididymis 0009715
Parietal foramina 0002697
Patellar dislocation
Dislocated kneecap
0002999
Patent ductus arteriosus 0001643
Pectus excavatum
Funnel chest
0000767
Pes planus
Flat feet
Flat foot
[ more ] 		0001763
Phonophobia
Fear of loud sounds
0002183
Plantar crease between first and second toes 0008107
Polydactyly
More than five fingers or toes on hands or feet
0010442
Poor coordination 0002370
Postnatal growth retardation
Growth delay as children
0008897
Premature thelarche
Premature breast development
0010314
Prominent fingertip pads
Prominent finger pads
0001212
Proptosis
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes
[ more ] 		0000520
Radial deviation of thumb terminal phalanx 0005895
Recurrent upper respiratory tract infections
Recurrent colds
0002788
Respiratory distress
Breathing difficulties
Difficulty breathing
[ more ] 		0002098
Retrognathia
Receding chin
Receding lower jaw
Weak chin
Weak jaw
[ more ] 		0000278
Scoliosis 0002650
Self-mutilation
Deliberate self-harm
Self mutilation
[ more ] 		0000742
Shawl scrotum
Scrotum surrounds penis
0000049
Short attention span
Poor attention span
Problem paying attention
[ more ] 		0000736
Single transverse palmar crease 0000954
Spina bifida occulta 0003298
Sporadic
No previous family history
0003745
Stereotypy
Repetitive movements
Repetitive or self-injurious behavior
[ more ] 		0000733
Syndactyly
Webbed fingers or toes
0001159
Talon cusp 0011087
Tethered cord 0002144
Thick eyebrow
Bushy eyebrows
Dense eyebrow
Heavy eyebrows
Prominent eyebrows
Thick eyebrows
[ more ] 		0000574
Truncal obesity 0001956
Unsteady gait
Unsteady walk
0002317
Variable expressivity 0003828
Vascular ring 0010775
Ventricular septal defect
Hole in heart wall separating two lower heart chambers
0001629
Wide anterior fontanel
Wider-than-typical soft spot of skull
0000260
Showing of 140 |
Last updated: 7/1/2020
RTS may be caused by a mutation in the CREBBP or EP300 gene, or as the result of a very small deletion (microdeletion) of genetic material from the short (p) arm of chromosome 16. In some people with RTS, the cause is unknown. Researchers believe that these cases are due to mutations in other genes that have not yet been identified.[3]
Last updated: 5/29/2017

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
The long-term outlook (prognosis) for people with RTS is generally good, but it may vary due to the range and severity of the health problems that may be present. Most patients have developmental delay and intellectual disability but most of patients older than 6 years of age are able to learn to read.[4] Life expectancy generally does not seem to be affected, except in children with complex cardiac (heart) defects. Cancers and respiratory infections are the most common causes of death.[5] Survival rates in general are good and there are many reports of adults with RTS.[6]
Last updated: 5/29/2017

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
The syndrome can sometimes be difficult to differentiate from Saethre-Chotzen syndrome, Floating Harbor syndrome and Cornelia de Lange syndrome.
Visit the Orphanet disease page for more information.

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • The Research Portfolio Online Reporting Tool (RePORT) provides access to reports, data, and analyses of research activities at the National Institutes of Health (NIH), including information on NIH expenditures and the results of NIH-supported research. Although these projects may not conduct studies on humans, you may want to contact the investigators to learn more. To search for studies, enter the disease name in the "Text Search" box. Then click "Submit Query".

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Education Resources

  • The Genetics Education Materials for School Success (GEMSS) aims to assure that all children with genetic health conditions succeed in school-life. Their Web site offers general and condition-specific education resources to help teachers and parents better understand the needs of students who have genetic conditions.

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Rubinstein-Taybi syndrome. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • Are puberty and menstruation delayed in females with Rubinstein-Taybi syndrome? See answer

  • How does this condition affect eyesight? See answer

  • How long can a person with Rubinstein-Taybi syndrome live for? See answer

  • My son suffers from Rubinstein-Taybi syndrome. Over the past year he has developed tremors affecting both upper extremities.  I am wondering if there is a known cause associated with the disorder.  My research seems to indicate there may be but I cannot find anything definitive.
    See answer


  1. Rubinstein-Taybi syndrome. MedlinePlus. 2016; http://www.nlm.nih.gov/medlineplus/ency/article/001249.htm.
  2. Rubinstein-Taybi syndrome. Genetics Home Reference (GHR). 2007; http://ghr.nlm.nih.gov/condition/rubinstein-taybi-syndrome.
  3. Stevens CA. Rubinstein-Taybi Syndrome. GeneReviews. August 7, 2014; http://www.ncbi.nlm.nih.gov/books/NBK1526/.
  4. Rubinstein Taybi Syndrome. NORD. 2015; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/461/viewAbstract.
  5. Raoul Hennekam. Rubinstein-Taybi syndrome. Orphanet. April, 2014; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=783. Accessed 12/3/2014.
  6. David Flannery. Genetics of Rubinstein-Taybi Syndrome. Medscape. September 2, 2014; http://emedicine.medscape.com/article/948453-overview.