Can anyone explain in laymans terms what 'Opitz Syndrome' is?
My boyfriends son has 'Opitz Syndrome'. I have surfed the net and read up on it but it still is confusing. Please, help me
It is a defect in the cholesterol synthesis. Usually such babies are stillborn or miscarried or die within a few weeks after the birth. Any cure for this syndrome? To the best of my knowledge it has not been invented. But one fact from history gives optimism. The creator of Modern Art Pablo Picasso was also stillborn and was about to be cremated by his relatives, thinking that he was dead. His uncle, a chain smoker, blew the cigarette smoke into Picasso's nostrils and the baby cried. Tobacco was inadvertently used as a medicine in this case and it worked. But I do not know whether it will work for all stillborn babies.
Opitz syndrome is a genetically inherited disorder. It manifest because of a defect in the metabolism of cholesterol in the body. Although we consider cholesterol as 'bad', too little of which could cause catastrophic manifestations. Children with Opitz syndrome are considered as suffering from a mild to moderate form of the condition as severe manifestations may not be compatible with life.
Children with Opitz could display signs such as lethargy, hearing loss, visual loss, failure to thrive, constipation, difficulty in breathing, or even heart failure. At the same time, mild to moderate mental retardation may also be present.
Unfortunately there are no treatment for Opitz although cholesterol supplements have shown to prolong life. Supportive therapy is the mainstay of treatment and many support groups can be found in the internet.
Please feel free to ask if you need more clarifications.
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