Can Rubinstein-Taybi syndrome occur in adults and what are the signs and symptoms?

Rubinstein-Taybi Syndrome in Adults

Yes, Rubinstein-Taybi syndrome (RTS) is a lifelong genetic condition that persists into adulthood, with adults displaying characteristic physical features, ongoing medical complications, and behavioral challenges that often worsen with age. 1, 2

Core Features Present in Adults

Physical Characteristics

Adults with RTS maintain distinctive craniofacial features that remain remarkably consistent from childhood through adulthood 3:

• Microcephaly with a relatively round head shape (head width equal to head length) 3
• Distinctive nose with beaked appearance, broad fleshy bridge, deviated septum, and short low columella 3
• Facial features including downslanting palpebral fissures, epicanthic folds, ptosis, strabismus, small mouth, and simple ears 3
• Distal limb anomalies including broad thumbs and great toes 4, 5
• Wide-spaced eyes relative to upper facial width and head circumference 3

The facial phenotype shows some evolution with age—mandibular dimensions become closer to normal compared to maxillary counterparts as individuals mature, but the overall pattern remains recognizable 3.

Growth and Body Habitus

• Short stature is consistently present and persists into adulthood 2
• Obesity becomes a common problem in adult life 2

Medical Complications in Adults

Most Prevalent Issues

The natural history of RTS in adults is characterized by significant ongoing morbidity 1:

• Behavioral and psychiatric problems occur in 83% of adults, representing the most common complication 1
• Gastrointestinal problems affect 73% of adults, predominantly manifesting as constipation 1
• Sleep disturbances occur in 62% of adults with a consistent pattern of sleep apnea, difficulty staying asleep, and increased need for sleep 1
• Skin and adnexa-related problems including keloids affect 65% of individuals 1, 2

Additional Medical Issues

• Visual difficulties are common 2
• Spine curvature (scoliosis) 2
• Joint problems 2
• Eating problems 2

Surgical Needs

Approximately half of adults with RTS require surgery at least once during adulthood, with most requiring multiple surgical interventions 1.

Functional and Cognitive Status

Intellectual Disability

• Moderate intellectual disability is typical 2
• Most adults achieve some independence in self-care and communication 2
• Many participate in supported work situations 2

Concerning Trend

Approximately one-third of adults show decreased abilities over time, representing a regression in previously acquired skills 2. This is a critical finding that requires ongoing monitoring.

Behavioral Challenges

• Behavior problems are common and often worsen with age 2
• This represents a significant management challenge requiring specialized behavioral support 2

Genetic Basis

RTS is caused by pathogenic variants in two genes 4, 5:

• CREBBP gene (RTS1): accounts for approximately 55% of clinically diagnosed cases with 500 pathogenic variants reported 4, 5
• EP300 gene (RTS2): accounts for approximately 8% of cases with 118 pathogenic variants reported 4, 5

These genes encode lysine acetyltransferases involved in transcriptional regulation and chromatin remodeling, making RTS a model chromatinopathy or epigenetic disorder 4, 5.

Cancer Surveillance Considerations

According to recent guidelines, adults with RTS have specific tumor risks 6:

• Meningiomas occur in approximately 5% of individuals 6
• Pilomatricomas occur in approximately 10% of individuals 6
• Routine cancer screening is not indicated for these tumors based on current evidence 6

Critical Care Gap

A major concern is that very few adults with RTS continue to see a geneticist or receive coordinated multidisciplinary care 2. While pediatric patients typically receive comprehensive multidisciplinary management, this coordinated approach often discontinues in adulthood, despite ongoing significant medical morbidity 1.

Recommended Approach

• Long-term involvement of geneticists is needed 2
• Education of adult primary care providers about RTS-specific complications is essential 2
• Multidisciplinary follow-up should continue into adulthood, as approximately 65% of adults currently receive such care but this should be universal 1
• Regular monitoring for regression in functional abilities is critical given the one-third who experience decline 2

Common Pitfall to Avoid

Do not assume RTS is only a pediatric condition or that medical issues resolve with age. Adults with RTS experience significant ongoing morbidity, behavioral challenges that often worsen, and may show functional regression. The transition from pediatric to adult care represents a vulnerable period where coordinated multidisciplinary management often breaks down, leaving patients without appropriate specialized follow-up 1, 2.