A Study on Rubinstein - Taybi SyndromeJournal: International Journal of Science and Research (IJSR) (Vol.9, No. 4)
Publication Date: 2020-04-05
Authors : Swapna V Thampi;
Page : 1475-1476
Keywords : Rubinstein Taybi Syndrome; Genetic disorder;
Rubinstein - Taybi Syndrome also known as Broad Thumb-Hallux syndrome is a genetic disorder that affects many organ systems. It is characterized by facial dysmorphism, beaked nose, slanted eyes, long eye lashes, low hanging nasal septum, extra cusp on lingual side of front tooth, board thumbs and great toes (halluces), and feeding difficulties. In addition to the above there will be growth delays, obesity, intellectual disability, behavioral issues, impulsivity and symptoms of Autism. Further, many persons with RT Syndrome have kidney and heart defects and need medical interventions. Most infants born with this syndrome have a physical appearance which is different from their family at the time of birth. The cause of Rubinstein-Taybi syndrome is due to gene mutation. The medical issues should be addressed as it may evolve in to life threatening complications. Support from occupational therapist, physical therapist and speech therapist along with special education are essential along with parent counselling and training. People with RT Syndrome can achieve autonomy in communication and self-help skills and can be productive with adequate support.
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