How rare is Rubinstein-Taybi syndrome?

Rubinstein-Taybi syndrome is classified as uncommon. The estimated prevalence is approximately 1-9 in 100,000. Because rare disease data can be limited, actual numbers may differ from published estimates.

How is Rubinstein-Taybi syndrome diagnosed?

Information about diagnosis is currently limited for this condition.

Are there treatments for Rubinstein-Taybi syndrome?

Information about treatment options and management approaches is currently limited for this condition.

What are the common complications associated with Rubinstein-Taybi syndrome?

People with Rubinstein-Taybi syndrome may face various complications due to the condition. These can include growth delays, intellectual disabilities, and specific physical features like broad thumbs and toes. It's important to monitor these aspects closely to provide the best support and care.

How does Rubinstein-Taybi syndrome affect daily life and development?

Rubinstein-Taybi syndrome can impact daily life in several ways. Children may experience slower growth and developmental delays, which can affect their ability to participate in typical activities. Support from family, educators, and healthcare providers is essential to help them thrive.

What is the life expectancy for someone with Rubinstein-Taybi syndrome?

Information about life expectancy for individuals with Rubinstein-Taybi syndrome is currently limited. However, many people with this condition can lead fulfilling lives with appropriate support and care. Regular medical check-ups can help manage health issues that may arise.

Are there specific specialists that should be involved in the care of someone with Rubinstein-Taybi syndrome?

Yes, individuals with Rubinstein-Taybi syndrome may benefit from a team of specialists. This can include pediatricians, geneticists, and therapists who focus on developmental and behavioral support. Working with these professionals can help address the unique needs of the person with the syndrome.

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Rubinstein-Taybi syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

Rubinstein-Taybi syndrome

MONDO:0019188

Also known as:Broad thumb-hallux syndromeBroad thumbs-halluces syndromeRubinstein syndrome

Find Clinical TrialsTrials

Overview

A rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioral characteristics.

OnsetINFANTILE, JUVENILE, NEONATAL, CONGENITAL

Clinical Trials2 registered · 2 recruiting

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

No HPO annotations are available for this condition.

Age of onset: infancy, adolescence, newborn period, at birth.

GeneReviews

Clinical Guidance

Rubinstein-Taybi syndrome (RSTS) is a multisystem disorder characterized by short stature, variable structural abnormalities, characteristic facial appearance, broad thumbs and halluces, and variable degrees of intellectual disability. The most consistent craniofacial features are microcephaly, highly arched eyebrows, downslanted palpebral fissures, convex nasal ridge, low-hanging columella, and grimacing smile. The thumbs and halluces are broad and often angulated . RSTS is frequently recognized at birth or in infancy because of the striking facial features and characteristic hand and foot findings. Problems in early life include respiratory difficulties, feeding issues, poor weight gain, recurrent infections, and severe constipation. To date, at least 600 individuals have been identified with a pathogenic variant in CREBBP or EP300 [, , , ]. The following description of the phenotypic features associated with this condition is based on these reports. Table 2. Select Features of Rubinstein-Taybi Syndrome

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

Suggestive Findings

Rubinstein-Taybi syndrome (RSTS) should be suspected in individuals with the following characteristic clinical and neuroimaging findings and family history.

Major features

Craniofacial appearance (See .)
Downslanted palpebral fissures

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for Rubinstein-Taybi syndrome. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Clinical practice guidelines for Rubinstein-Taybi Syndrome (RSTS) have been published by .

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with RSTS, the evaluations summarized (if not performed as part of the evaluation that led to diagnosis) are recommended.

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

To monitor existing manifestations, the individual's response to supportive care, and the emergence of new manifestations, the evaluations summarized in are recommended. Table 6. Rubinstein-Taybi Syndrome: Recommended Surveillance

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

2 clinical trials registered, 2 recruiting. Interventions under study include other interventions. Pipeline includes 1 NA. Research is primarily sponsored by academic and government institutions.

65 publications have been identified in PubMed for Rubinstein-Taybi syndrome. Research spans Case Report / Case Series (52%), Review / Meta-Analysis (23%), and Basic Science / Preclinical (13%).

Research Type	Count	% of Total
Patient case studies	33

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 2:54 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:783

GARD

Genetic and Rare Diseases Info Center

GARD:7593

Questions for Your Care Team

→Are any of the 2 active clinical trials a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

FAQ

Frequently Asked Questions

Common questions about Rubinstein-Taybi syndrome

Rubinstein-Taybi syndrome is a rare condition that affects many parts of the body. People with this condition often have unique facial features, a small head (microcephaly), and differences in the shape of their thumbs and big toes. They may also experience slower growth after birth and shorter overall stature. The syndrome is considered a malformation disorder because it causes changes in the body’s structure that are present from birth. It is also linked with intellectual disability and some behavioral characteristics. Research has helped to identify these consistent features, although the full causes of the syndrome are not completely understood.

Common symptoms and signs of Rubinstein-Taybi syndrome include congenital anomalies such as microcephaly, distinct facial characteristics, broad thumbs and big toes, and postnatal growth retardation. People with this condition may also have short stature and may experience intellectual disability as well as other behavioral characteristics.

Information about causes is currently limited for this condition. Associated genes include EP300, CREBBP.

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Feature	% of Persons w/Feature	Comment
Growth deficiency	73%	—
Eye findings	80%	—
Hearing loss	30%	Mostly conductive, but can also be sensorineural
Respiratory features	Common	Infections, aspiration
Cardiac features	33%	—
Genitourinary anomalies	27%	Cryptorchidism most common (~78%-100% of affected males)
Gastrointestinal features	88%	Feeding difficulties, constipation
Skeletal abnormalities	Common	20% scoliosis, 92% thumb/hallux anomalies
Neurologic issues	21%	—
Dental anomalies	73%	Talon cusps, enamel hypoplasia
Skin findings	24%	Keloids, pilomatrixomas
Recurrent infections	17%	Primarily respiratory
Tumors	30%	Benign and malignant
Developmental delays	98%	—
Behavioral issues	41% autism/autistic features, 27%-64% anxiety	—
Brain MRI abnormalities	74%	Various findings Growth. Although prenatal growth is usually normal, growth deficiency begins in the first year of life. There is typically an absence of a growth spurt in adolescence.

Kisho

Rubinstein-Taybi syndrome

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

Differential Diagnosis

FGFR3

Constitutional

Neurologic

Development

Psychiatric

Musculoskeletal

Feeding

Therapies Under Investigation

Clinical Trials

Recent Publications

Latest News & Developments

Gastrointestinal Manifestations in Rubinstein-Taybi Syndrome.

Rubinstein-Taybi syndrome

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

What is Rubinstein-Taybi syndrome?

What are the symptoms of Rubinstein-Taybi syndrome?

What causes Rubinstein-Taybi syndrome?

How rare is Rubinstein-Taybi syndrome?

How is Rubinstein-Taybi syndrome diagnosed?

Are there treatments for Rubinstein-Taybi syndrome?

What are the common complications associated with Rubinstein-Taybi syndrome?

How does Rubinstein-Taybi syndrome affect daily life and development?

What is the life expectancy for someone with Rubinstein-Taybi syndrome?

Are there specific specialists that should be involved in the care of someone with Rubinstein-Taybi syndrome?

Differential Diagnosis

FGFR3

Constitutional

Neurologic

Development

Psychiatric

Musculoskeletal

Feeding

Therapies Under Investigation

Clinical Trials

Recent Publications

Latest News & Developments

Gastrointestinal Manifestations in Rubinstein-Taybi Syndrome.