Rett syndrome_Developmental Abnormality

Posted by e-Medical PPT Friday, July 23, 2010
Rett syndrome is a neurodevelopmental disorder affecting grey matter.The clinical features include small hands and feet and a deceleration of the rate of head growth.Repetitive hand movements such as mouthing or wringing are also noted. Girls with Rett syndrome are prone to gastrointestinal disorders and up to 80% have seizures.They typically have no verbal skills, and about 50% of females are not ambulatory. Scoliosis, growth failure, and constipation are very common and can be problematic.The signs of this disorder are most easily confused with those of Angelman syndrome, cerebral palsy and autism.
Rett syndrome is usually caused (95% or more) by a de novo mutation in the child(not inherited from either parent). Parents are generally genotypically normal.In sporadic cases of Rett syndrome, it is thought that the mutated MECP2 is usually derived from the male copy of the X chromosome.
Currently there is no cure for Rett syndrome

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