"Rubinstein-Taybi Syndrome" – What Is It?
Rubinstein-Taybi syndrome (RSTS) is a disorder caused by mutations, i.e., genetic changes in the CREBBP or EP300 gene. It is characterized by a characteristic face shape, broad and often angled thumbs and big toes, short stature, and intellectual impairment.
How Is "Rubinstein-Taybi Syndrome" Diagnosed?
Clinical Diagnosis
The diagnosis can usually be made by the occurrence of certain clinical findings. These findings include the following abnormalities:
- Characteristic shape of the face
- Sloping palpebral fissures
- Low nose bridge
- High palate
- Grimacing laugh
- Protrusions on the teeth, usually on the inside of the permanent upper incisors
- Broad, often angled thumbs, broad fingers and toes
- Undescended testicles in male RSTS patients
- Changes in the urogenital tract
- Congenital heart disease
- Short stature in adulthood
- Overweight in childhood and adolescence
- Intellectual impairment (IQ between 25 and 79)
Genetic Diagnostics
The “Rubinstein-Taybi syndrome” diagnosis can also be confirmed by detecting a mutation, i.e., a genetic change in the CREBBPor EP300 gene.
What Is the Risk of Cancer?
To date, various benign and malignant tumors of different organs (e.g., liver, nervous system, testicles/ovaries, skin, blood) have been described in the context of Rubinstein-Taybi syndrome. However, the risk of cancer is only moderately increased.
Children usually stand out at birth or in infancy due to their distinctive face shape and characteristic changes to the hands and feet. In infancy and early childhood, breathing problems, feeding problems, poor weight gain, frequent infections, and severe constipation may occur.
The symptoms of Rubinstein-Taybi syndrome can affect various organ systems and areas. These abnormalities and changes are described below:
| Area | Symptoms |
|---|---|
| Face | Drooping palpebral fissures, low nasal bridge, high palate, grimacing laugh |
| Nervous system | Abnormalities and structural changes in the neck and head, which can result in a narrowing of the spinal cord, for example |
| Eye | Strabismus, short-sightedness or long-sightedness, drooping eyelid, narrowing of the nasolacrimal duct, cataract, cleft eye, eye tremor, glaucoma, changes to the cornea and retinal defects |
| Heart | Around one-third of RSTS patients have congenital heart disease. |
| Urogenital tract | Changes to the kidneys are widespread. Almost all male RSTS patients have undescended testicles. |
| Skeleton | Broad, often bent thumbs and toes, broad fingers, displaced kneecaps, lax joints, the curvature of the spine, death of bone tissue in the femoral head (Perthes’ disease), slippage of the femoral head, and changes in the cervical spine |
| Sleep apnoea | Obstructive sleep apnea (periodic cessation of breathing during sleep) is caused by the combination of a narrow palate, small jaw, muscular weakness, obesity, and an easily collapsing laryngeal wall |
| Skin | Small tissue growths and benign, hard skin tumors originating from the hair roots |
| Teeth | Crowded teeth, malocclusion (teeth of the upper and lower jaw are not aligned correctly), tooth decay, under- or overcounting of teeth, natal teeth, and outgrowths on the teeth, which usually occur on the inside of the permanent upper incisors |
| Growth | Normal growth occurs before birth. In infancy, the parameters for height, weight, and head circumference fall below the 5th percentile. The average height for men is 153 cm, and for women, it is 147 cm. Boys often become overweight in childhood and girls in adolescence. |
| Intellect | Developmental delay in motor, psychosocial, and linguistic areas. The IQ is between 25 and 79. |
| Behavior | Short attention spans, low tolerance of noise and crowds, impulsivity, and moodiness are frequently observed. In addition, attention problems, hyperactivity, self-injurious, aggressive, or autistic behavior may occur. |
What Is Known About the Development of "Rubinstein-Taybi Syndrome"?
Rubinstein-Taybi syndrome is caused by mutations, i.e., genetic changes in the CREBBP or EP300 genes. These genes code for the CREB-binding protein and the EP300 protein, respectively, both of which are necessary for the reading and replication of DNA, i.e., the genetic material, in our body.
If the CREBBPor EP300 gene is present in an altered form, the corresponding proteins are not produced correctly and can no longer fulfill their actual function. This can lead to the incorrect development of various structures in our body.
Rubinstein-Taybi syndrome occurs in around one in 100,000 to 125,000 people and can be passed on from parents to their children. The inheritance is autosomal dominant. However, spontaneous or new mutations, known as de novo mutations, are usually present.
Is There Any Form of Treatment Available?
Given the many possible manifestations, treatment should always be symptom-oriented and carried out in collaboration with various specialist disciplines.
Diagnosis of " Rubinstein-Taybi Syndrome" What's Next?
If you have been diagnosed with this cancer predisposition syndrome, it is important to see a specialist. The following section explains whether cancer screening tests or other measures are needed and how they should be carried out. We also give you some valuable tips on what you can do yourself. If you have any questions, please do not hesitate to contact us or your doctor.
Diagnosis of " Rubinstein-Taybi Syndrome" What's Next?
If you have been diagnosed with this cancer predisposition syndrome, it is important to see a specialist. The following section explains whether cancer screening tests or other measures are needed and how they should be carried out. We also give you some valuable tips on what you can do yourself. If you have any questions, please do not hesitate to contact us or your doctor.
Medical Measures for Early Detection
The following examinations should be performed on patients with Rubinstein-Taybi syndrome for early detection:
- Close monitoring of height, especially in the first year of life
- Annual ophthalmologic examination
- Annual ENT examination, more frequently in the case of previous repeated middle ear infections
- Regular examination for changes to the heart or kidneys
- Regular dental examination
Further examinations and referral to a specialist should occur if necessary if there are any abnormalities.
Patients should be made aware of a moderately increased risk of cancer. Targeted cancer screening is not recommended.
Rubinstein-Taybi Syndrome- What You Can Do Yourself
You Should Pay Attention to This
You should consult a doctor when vision, skin, sensation, or motor function changes occur. In addition, movement restrictions and pain in the bones or joints should be noticed and reported to a doctor. You should also consult a doctor if you notice any new abnormalities or complaints, such as behavioral problems.
Further Information
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