Rubinstein–Taybi syndrome: a case report
DOI:
https://doi.org/10.18203/2349-3291.ijcp20222630Keywords:
Rubinstein Taybi syndrome, Genetic condition, CREBBP gene, EP300 geneAbstract
Rubinstein Taybi syndrome (RTS) is a rare genetic condition caused by a mutation or deletion in the CREBBP and/or EP300 gene located on chromosome 16. It is characterized by short stature, moderate to severe learning difficulties, distinctive facial features and broad thumbs and toes. It occurs in estimated 1 in 1,25000 to 3,00000 births. Diagnosis mainly depends upon the presence of distinctive features, abnormal facies, abnormalities of limbs. These patients are also at increased risk of developing meningioma, other brain tumours and leukaemia, thus early diagnosis and recognition of malignancy can aid in successful life-saving interventions.
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