What is Rubinstein-Tayy syndrome?

Rubinstein-taybi syndrome is a condition that was first identified at the age of 60. Jack Rubinstein and Hooshang Taybi. Before their identification, it was not considered to be a related set of conditions that guarantee each name. Today, the disease is better known as one present at birth, affecting intelligence, appearance, developmental patterns and possibly affecting health in different ways.

The most important features of the Rubinstein-Tayy syndrome is the unique face appearance. This includes a smaller head, a small mouth, a larger nose and eye eyes. The hairline can be extended on the forehead and children with this condition can have much smaller parallads than the average. Large fingers and thumbs are often wide and may not be as straight as normal.

While the appearance of the face, thumbs and large tips is very similar to every child with Rubinstein-Tayy syndrome, there may be very big differences in the other problems. Most children with this condition are mild to moderately retarded and may suffer from a seriesdelay that affects language, feeding and motor skills. Many children also have some form of eye problems, but a particular type may vary by child.

is the prevalence of heart defects, some of which may require surgery in childhood or early childhood. From the conditions associated with this syndrome, the presence of heart defects may have the greatest impact on survival. As already mentioned, many children with this condition live well into adulthood.

There are many children who have such clear evidence of Rubinstein-Teybi syndrome that they are diagnosed very soon in life. Others do not get a diagnosis until they are almost 2 years or older. Especially soon it is difficult to say whether the appearance of the face is so dramatically different, but later in Infan will appear brighter, along with proof of other delay or problems. It should be emphasized that these other problems or delay actually turnsThe strength on the child, and not all children with this syndrome have the same precise symptoms, although they are most similar to the face.

things that remain about the Rubinstein-Taybi syndrome belongs to what it causes. Genetic studies do not yet show that it has a genetic or inherited origin and there are very few reports that more than one person has it in the same family. This does not rule out that the condition may be chromosomal, but there is no clear explanation yet.

It is clear that children with Rubinstein-Tayy syndrome will need a lot of support. Physical, professional and other educational therapies could be useful in compensating for early developmental challenges. Further assistance is needed because children progress at school and most children lack the level of news needed to obtain full secondary education. Instead, it supports the adoption of ssisnance, which can allow these children to learn and prosper according to their abilities, and help should include support to parents and family members.