Rubinstein Taybi syndrome is a genetic disorder or disease in which thumbs and toes becomes broad and mental deficiency, short stature, odd facial features may be found. Rubinstein-Taybi syndrome affects men as well as women also.
Causes of Rubinstein Taybi syndrome:
The main cause of rubinstein taybi syndrome is mutation and it transfers in children by their parents through inheritance of X chromosome. If parents have defective genes then there are 50:50 chances of transfer of gene of rubinstein taybi syndrome.
Symptoms of Rubinstein Taybi syndrome:
The symptoms of Rubinstein Taybi syndrome depends on severity of syndrome and may different person to person. Common symptoms those are found in everyone who has rubinstein taybi syndrome.
- Upper jaw becomes narrow.
- Nose becomes prominent and beak shaped
- Toes and thumbs are broad
- Found mentally deficiency.
- Patient has difficulty in speak
- Body growth is also affected
- Body hair growth increased in excess
- Malformed ears
- Eyes becomes wide
Treatment of Rubinstein Taybi syndrome:
Treatment of rubinstein taybi syndrome is depends on symptoms, a patients have.
If a patient has mental disorder then treatment will be different. If a patient have problem in speak then you should consult speech therapist. Parent who are going to be plan for mother pregnancy then they are advised for genetic counseling.
