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    Gastro-Intestinal Disorder

 

Rett Syndrome ( MIM: 312750)

Rett syndrome is a neurodevelopmental disorder that occurs almost exclusively in females. Rett syndrome (RTT) is caused by mutation in the gene encoding methyl-CpG-binding protein-2 (MECP2). It affects the development of the central nervous system (grey matter). The clinical features include small hands and feet and a deceleration of the rate of head growth (including microcephaly in some), repetitive hand movements (such as mouthing or wringing). Girls with Rett syndrome are prone to gastrointestinal disorders and up to 80% have seizures. Rett syndrome is usually sporadic, caused (95% or more) by a de novo mutation in the child.

Peutz-Jeghers syndrome  ( MIM: 175200 )

The autosomal dominant Peutz–Jeghers syndrome, also known as hereditary intestinal polyposis syndrome, is characterized by the development of benign hamartomatous polyps in the gastrointestinal tract and hyperpigmented macules on the lips and oral mucosa. The disease is caused due to mutations in the serine/threonine kinase STK11 gene. Peutz-Jegher syndrome has a prevalence of approximately 1 in 25,000 to 300,000 births.