Rubinstein Taybi syndrome (RTS), also referred to as wide thumb-hallux syndrome or Rubinstein taybi syndrome, which is a disorder characterized by short stature, moderate to severe learning problems, distinctive facial features, and broad thumbs and first feet. Other characteristics of this disease vary among affected people.



Individuals with this condition have a higher chance of developing noncancerous and cancerous tumors, leukemia, and lymphoma. This problem may be inherited as an autosomal dominant pattern and is rare, many instances it happens as a de novo (not inherited) event, it happens within an estimated 1 in 125,000-300,000 births.

Presentation of Rubinstein Taybi Syndrome

Typical features of the disorder include:

Broad thumbs and broad first toes and clinodactyly of the 5th finger
Mental disability
Small height, low bone growth, small head
Cryptorchidism in males
Unusual facies involving the eyes, nose, and palate
Anesthesia might be dangerous in those patients: "Based on the medical literature, sometimes, people with Rubinstein Taybi syndrome could have complications (e.g., respiratory distress and/or irregular heart beats [cardiac arrythmias]) correlated with a specific muscle relaxant (succinylcholine) and particular anesthesia. Main literature indicates the children could get a greater rate of coronary physical and conduction abnormalities which might cause unexpected effects with cardioactive drugs. A additional editorial response from the British Journal of Anaesthesia discusses changes from the facial skin and airway structure which makes it more challenging to ensure the airway under anaesthesia, but complications arose in a minority of instances, and regular techniques of airway management in the operating room seems to be prosperous. They advocated close person analysis of Rubinstein--Taybi patients to get anaesthetic programs.
A 2009 study found that kids with RTS were prone to be obese and to have a brief attention span, motor stereotypies, and inadequate nourishment, also hypothesized that the recognized CREBBP gene diminished motor skills learning. Other research has demonstrated a connection with long-term memory (LTM) deficit. See also Epigenetics in memory and learning.


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