What Is Rubinstein – Taybi Syndrome
The health of our children will never stop being a concern, especially when they are born with genetic problems. One of the least frequent is Rubinstein – Taybi syndrome (SRT) that occurs from birth, due to a mutation that occurs during the development of the fetus.
This multisystemic genetic disorder was first described in the late 1950s. Later, in 1963, it was recognized as a syndrome by Hooshang Taybi and Jack Rubinstein .
According to statistics, this disorder affects one in 125,000 newborns; that is, a fairly small figure that remains latent in the population.
Generally, people with this syndrome have an abnormality in a gene that has an abnormal CREB-binding protein (CREBBP), which acts as a transcription factor.
Undoubtedly, parents have to seek advice from a pediatrician to guide them in their particular case, because although the little one who suffers this syndrome you will need specialized care.
Despite the years, a treatment has not yet been developed to prevent the appearance of this syndrome in the fetus.
Rubinstein – Taybi syndrome: diagnosis
When born a baby is important to perform a series of tests that help detect the presence of some diseases.
In the case of Rubinstein – Taybi syndrome, these are the diagnoses that we can make:
- Droopy eyelids , also known as ptosis
- Kidney absent or an additional kidney: this implies problems with this organ or the bladder
- Narrow palate
- Underdevelopment in the facial bone structure
- Stiff or unsteady gait
- waterfalls
- Deformation in the teeth
- Malformed ears
- waterfalls
- Testicular problems or without descending
- Defect in the iris of the eye (coloboma)
- Long lashes and arched brows
- Macrocephaly or microcephaly
- Abnormalities in some extremities, especially in the thumbs of the hands and feet
- Small pelvis
- Arched palate
- Retracted, narrow, or small mouth
- A crooked or prominent nose
Genetic testing
Faced with these symptoms, specialists must perform genetic tests to help determine if the patient does not have the CREBBP gene .
They also have to do physical tests such as: X-rays of the hands; a computed tomography (CT) scan; an EEG, to assess brain activity, and an EKG.
Young children also tend to have mental difficulties that can be treated with cognitive and language therapies .
With regard to the physical deformations in their fingers, doctors have the opportunity to perform a surgical repair, which will allow them to relieve discomfort and have a better grip on objects.
Doctors can operate on the thumbs to improve grip on objects
With the guidance of specialists, these little angels can learn to read at a basic level and they manage to walk from the age of two and a half. This means that the whole family must stay together. to shake hands with this new member who needs so much from us.
Possible complications
In addition to presenting this clinical picture, the little ones can suffer other problems such as difficulty feeding infants , poor skin healing, ear infections with hearing loss , abnormal heart beat, heart problems due to malformations in the organ.
If you have a family history, it never hurts seek support from a genetic counselor to perform the necessary tests, before planning a pregnancy .
The best way to prevent this disease is for future parents to know the chances that their baby will have this syndrome.
Obviously, if a baby is born with these difficulties you have to have strength and take on the challenges that life has posed us . This is the most effective way to show our little one that life is challenging and worth fighting for. For this reason, do not let yourself be overwhelmed by emotions and move on.
A child can never be seen as someone who only has a syndrome, but as a human being who has the right to enjoy the world .
Our responsibility is to give you the best care you need or this in our hands, in order to look you in the eyes as a person, loved, cared for and above all without any type of labels. In this way, that youngster will overcome adversity with more strength.
