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Disease Profile

Rubinstein-Taybi syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-9 / 100 000

3,310 - 29,790

US Estimated

1-9 / 100 000

5,135 - 46,215

Europe Estimated

Age of onset

Neonatal

ICD-10

Q87.2

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Rubinstein syndrome; RSTS; Broad thumb-hallux syndrome;

Summary

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]

Symptoms

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.

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

Cause

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]

Diagnosis

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.

    Organizations

    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

      Learn more

      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.

          References

          1. Rubinstein-Taybi syndrome. MedlinePlus. 2016; https://www.nlm.nih.gov/medlineplus/ency/article/001249.htm.
          2. Rubinstein-Taybi syndrome. Genetics Home Reference (GHR). 2007; https://ghr.nlm.nih.gov/condition/rubinstein-taybi-syndrome.
          3. Stevens CA. Rubinstein-Taybi Syndrome. GeneReviews. August 7, 2014; https://www.ncbi.nlm.nih.gov/books/NBK1526/.
          4. Rubinstein Taybi Syndrome. NORD. 2015; https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/461/viewAbstract.
          5. Raoul Hennekam. Rubinstein-Taybi syndrome. Orphanet. April, 2014; https://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; https://emedicine.medscape.com/article/948453-overview.

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