Rubinstein-Taybi Syndrome in Children Causes Symptoms and Treatment

Rubinstein-Taybi Syndrome is a rare genetic condition that appears in children and affects physical and mental development, as well as certain distinctive features. A child with this syndrome may show characteristic traits such as broad fingers, learning difficulties, and delays in speech or movement. Although the syndrome is uncommon, understanding its causes, symptoms, and management strategies helps parents face challenges more effectively. In this article from Dalily Medical, we will explore in detail what Rubinstein-Taybi Syndrome is, its symptoms in children, diagnostic methods, and the latest treatment options that can improve the child’s quality of life and provide psychological and social support.

❓ What is Rubinstein-Taybi Syndrome in children?
Rubinstein-Taybi Syndrome (RTS) is a rare genetic disorder that affects a child’s physical and mental development. Children with RTS often have distinctive facial features, broad fingers, and delays in motor and speech development.

❓ What causes Rubinstein-Taybi Syndrome?
The main cause is usually a random genetic mutation in the RBM10 gene or similar genes. In most cases, the syndrome is not inherited from the parents but occurs spontaneously in the child.

❓ What are the symptoms of Rubinstein-Taybi Syndrome?
Symptoms vary from child to child, but common ones include:

Low muscle tone in infants and difficulty with feeding.
Delays in sitting, walking, and speaking.
Distinctive facial features such as a wide mouth, a prominent lower lip, and widely spaced eyes.
Broad fingers and thumbs.
Learning difficulties and behavioral challenges in older children.

❓ How is Rubinstein-Taybi Syndrome diagnosed?

Comprehensive clinical examination to observe physical features.
Review of family history and assessment of cognitive and motor development.
DNA testing to confirm the presence of the genetic mutation.

❓ Can Rubinstein-Taybi Syndrome be prevented?
There is no guaranteed way to prevent RTS because it usually results from a random genetic mutation.

Careful pregnancy planning and consultation with a genetic specialist can help assess the risk in families with a history of RTS.

❓ What are the treatment options for Rubinstein-Taybi Syndrome?

Supportive care for growth and nutrition to improve overall health and muscle strength.
Physical and occupational therapy to enhance motor skills and coordination.
Speech therapy to improve communication and language skills.
Ongoing medical follow-up for heart, digestive, or dental issues if they arise.
Psychological and behavioral support for the child and family to aid social and educational integration.

❓ What is the life expectancy of children with RTS?
Most children with Rubinstein-Taybi Syndrome can live a normal life, but continuous medical care and support are important to reduce potential health complications.

❓ Does Rubinstein-Taybi Syndrome affect intelligence?
Some children may have mild to moderate cognitive delays, but intellectual abilities vary widely.

Early intervention and educational support can enhance their skills and improve daily life functioning.

❓ Is Rubinstein-Taybi Syndrome inherited?
Most cases occur due to a random genetic mutation.
It is very rare for the syndrome to be inherited from a parent who carries the mutation.

❓ What are the associated health problems?
Some children may have heart defects or spinal abnormalities.
Infants might experience feeding or swallowing difficulties.
Dental issues can occur due to the shape of the jaw and mouth.

❓ Does the child need surgery?
Sometimes surgery is required to correct fingers or heart problems if they are significant.
In most cases, supportive treatment is used before considering surgical intervention.

❓ How can the child be supported at school?
Provide specialized educational programs tailored to the child’s abilities.
Offer individual support and teach social communication skills.
Maintain continuous collaboration between the family and school to facilitate learning.

❓ Are there medications for the syndrome?
There is no medication to treat the syndrome itself.
However, medications can be used for associated issues, such as heart or growth problems.

❓ When should you see a doctor?
If there are delays in growth, motor skills, or speech.
Or if health issues appear, such as heart problems, digestive difficulties, or muscle weakness.

Who is affected by Rubinstein-Taybi Syndrome?
RTS is extremely rare, occurring in about 1 in 100,000–125,000 live births.
Around 99% of cases appear as new (de novo) genetic mutations, not inherited.
Families with an affected child may be advised to seek genetic counseling to assess recurrence risk.
The syndrome affects males and females equally.

Stages of Rubinstein-Taybi Syndrome in Children

The syndrome does not have clearly defined disease stages like other conditions, but symptoms appear differently with age. A rough age-based breakdown is:

1️⃣ Infancy (0–12 months)

Low muscle tone (hypotonia) → difficulty controlling head and movements.
Feeding or swallowing problems.
Distinct facial features: wide mouth, prominent lower lip, wide-set eyes.
Broad fingers (especially thumbs), sometimes with unusual finger shapes.

2️⃣ Early Childhood (1–5 years)

Significant delays in speech and motor development.
Difficulty walking or sitting independently.
Dental issues (crowding, prominent teeth).
Possible heart or digestive problems.

3️⃣ Middle Childhood (6–12 years)

Ongoing educational challenges (reading, writing, attention difficulties).
Social interaction difficulties with peers.
Behavioral issues such as stubbornness, tantrums, or anxiety.

4️⃣ Adolescence (13–18 years)

Slower physical growth with persistent distinctive features.
Continued learning difficulties, though support and therapy can help.
Accompanying health issues: heart, dental, and sometimes hormonal problems.

5️⃣ Adulthood and Beyond

Symptoms persist, usually in a moderate form.
With continuous support, individuals can lead near-normal lives.
Regular medical follow-up is essential to prevent complications.

Types of Rubinstein-Taybi Syndrome in Children

Rubinstein-Taybi Syndrome (RTS) is a rare genetic disorder that affects growth and leads to distinctive features and developmental delays. Clinically, there are no separate “types,” but it can be categorized based on the genetic mutation:

1️⃣ Classic RTS

Cause: Mutation in the CREBBP gene on chromosome 16.
Features:
- Distinctive facial appearance: broad forehead, arched eyebrows, small mouth.
- Broad and short fingers.

2️⃣ Non-classic RTS

Cause: Mutation in the EP300 gene or a milder mutation in CREBBP.
Features:
- Symptoms similar to classic RTS but generally milder.
- Less severe intellectual and motor delays.
- Facial features and fingers may be less pronounced.

3️⃣ Rare Types (Sub-syndromes)

Linked to new mutations or related genes.
Can cause milder or more severe symptoms depending on the case.
Sometimes additional issues appear, such as vision problems or heart and kidney abnormalities.

Common Causes of Rubinstein-Taybi Syndrome in Children

The main causes are genetic mutations, primarily:

1️⃣ CREBBP Gene Mutation

Most common (50–60% of cases).
Plays a key role in cell growth regulation and brain development.
Leads to growth delays, finger abnormalities, and distinctive facial features.

2️⃣ EP300 Gene Mutation

Less common (5–8% of cases).
Symptoms are usually milder than classic RTS.

3️⃣ De Novo Mutations (Random)

Occur suddenly without inheritance from parents.
Most children are affected this way.

4️⃣ Very Rare Inherited Cases

In extremely rare situations, the mutation can be passed from a parent.
This occurs in a very small number of cases.

Symptoms of Rubinstein-Taybi Syndrome in Children

RTS presents in children with signs affecting appearance, cognitive development, and behavior. Symptoms vary in severity, but common features include:

1️⃣ Physical Symptoms

Distinctive facial features: broad forehead, arched eyebrows, slightly wide-set eyes, thin upper lip, and small mouth.
Finger abnormalities: broad and prominent thumbs and toes.
Short stature or slow physical growth.
Dental and jaw issues: small, crowded, or malformed teeth.
Possible congenital defects: heart, kidney, or spinal abnormalities.

2️⃣ Cognitive and Developmental Symptoms

Delays in sitting, walking, and speech compared to typical children.
Learning difficulties of varying severity (mild to severe).
Speech and language issues, often requiring speech therapy.

3️⃣ Behavioral and Social Symptoms

Difficulty with attention and focus.
Repetitive movements or hyperactivity.
Friendly and social, but may struggle with typical social interactions.

4️⃣ Associated Health Symptoms

Heart problems (congenital defects).
Eye issues such as strabismus or vision impairment.
Hearing problems.
Sleep disturbances or digestive issues in some cases.

How is Rubinstein-Taybi Syndrome Diagnosed in Children?

Diagnosis of RTS relies on a combination of clinical evaluation to identify physical and behavioral signs, along with genetic testing to confirm the causative mutations.

1️⃣ Clinical Assessment

Review of the child’s medical and family history.
Examination of distinctive facial features: broad forehead, arched eyebrows, widely spaced eyes.
Observation of broad fingers, especially thumbs and toes.
Assessment of dental and jaw abnormalities.
Monitoring delays in motor and cognitive development (sitting, walking, speaking).

Diagnostic Workup for Rubinstein-Taybi Syndrome in Children

1️⃣ Assessment of Associated Health Issues

Screening for heart defects or hearing and vision problems.

2️⃣ Genetic Testing

Analysis of CREBBP and EP300 gene mutations → confirms diagnosis in most cases.
Determines whether the mutation is de novo (new) or inherited.
Sometimes, chromosomal analysis or whole-genome sequencing is used if the mutation is not detected in initial tests.

3️⃣ Supportive Tests

Heart evaluation: Echocardiography to detect any congenital heart defects.
Eye and hearing exams: To ensure proper vision and hearing function.
Cognitive and developmental assessment: Special tests to measure learning ability, motor skills, and language development.

Treatment Options for Rubinstein-Taybi Syndrome in Children

While RTS cannot currently be cured at the genetic level, treatment focuses on managing symptoms and improving the child’s quality of life through medical, behavioral, and educational interventions.

1️⃣ Early Intervention for Cognitive and Motor Development

Physical Therapy: Strengthens muscles, improves balance, and helps with walking and movement.
Occupational Therapy: Helps the child gain independence in daily activities such as eating, dressing, and self-care.
Speech Therapy: Develops communication and speech skills, addressing difficulties with speech or swallowing.

2️⃣ Managing Associated Health Problems

Heart: Close monitoring and treatment of congenital defects if needed.
Eyes and Hearing: Regular exams to correct vision problems or fit hearing aids.
Digestive System & Immunity: Treat digestive issues or recurrent infections.

3️⃣ Educational Support

Enrollment in specialized programs or inclusive schools suited to the child’s abilities.
Individualized teaching strategies focusing on strengths and skill development.

4️⃣ Psychological and Social Support

Behavioral Therapy: Helps manage anxiety or hyperactivity.
Parental Training: Teaches families how to support the child emotionally and build self-confidence.

5️⃣ Surgical Intervention if Needed

Corrective surgery for finger deformities, dental issues, or jaw abnormalities.
Heart surgery if congenital defects require intervention.

6️⃣ Regular Follow-up

Routine visits to monitor physical and cognitive growth.
Adjusting treatment plans according to the child’s evolving needs.

Prevention of Rubinstein-Taybi Syndrome in Children

RTS is a rare genetic disorder, usually caused by spontaneous gene mutations, meaning there is no guaranteed prevention before birth. However, some steps can reduce risk or allow early preparation:

1️⃣ Genetic Counseling

Recommended if there is a family history of RTS.
Helps assess the likelihood of passing the mutation to future children.

2️⃣ Prenatal Monitoring

Prenatal genetic testing for high-risk pregnancies.
Tests include chromosomal analysis or gene sequencing to detect known mutations.

3️⃣ Early Postnatal Care

Early detection of physical and cognitive symptoms allows prompt intervention.
Monitoring physical and mental development from the first months enables timely:
- Physical Therapy
- Occupational Therapy
- Learning and communication support

4️⃣ Parental Education and Psychological Support

Educating parents about the syndrome helps them manage the child’s needs effectively.
Emotional and social support reduces stress caused by developmental or physical differences.