Prader Willi syndrome

Prader-Willi syndrome An uncommon genetic syndrome that is characterized by severe hypotonia (floppiness), poor sucking and feeding problems in early infancy, and, later in infancy, excessive eating that, if unchecked, leads gradually to marked obesity. Abbreviated PWS. Other sypmtoms include developmental delay, mild to moderate mental retardation with multiple learning disabilities, and small gonads. The basic cause of PWS is due to absence of the paternally contributed region 11–13 on the long arm of chromosome 15. The child can have two copies of chromosome region 15q11–15q13, but if both are from the mother (a phenomenon called maternal disomy), the child still has PWS because of lack of the region from the father. When the same region of the maternally contributed chromosome is missing, the result is a different disease, called Angelman syndrome. There is currently no specific treatment or cure for PWS.