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Dr. Andrew Rynne

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Suggest treatment for romano–ward syndrome

I have a case where 3 children all died in the same family. Ages 2.5yrs, 5yrs and 7yrs. All were sudden and occured in 1952, 1960, and 1961. I believe these children suffered from Romano-Ward Syndrome. I also believe that the 5yr old may have had Timothy Syndrome. Bilateral webbed hands and feet and other issues that match this condition. I know that Romano-Ward Syndrome is genetic and Timothy Syndrome is a gene mutation. Wondering what would be the odds that all of these children in one family would suffer from these defects? I know there is a 50% chance to be affected if a parent is a carrier.
Fri, 25 Jan 2019
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Internal Medicine Specialist 's  Response
Hi,

Romano-Ward Syndrome is autosomal dominant disorder and characterised by long QT syndrome with the risk of sudden death.

Autosomal dominant disorders are caused by a mutation in an autosomal gene. In order to have an autosomal dominant disorder, only one copy of the gene (inherited from either parent) needs to contain a disease-causing mutation. If an individual has a parent with one mutant copy, that individual has a 50% chance of inheriting the mutant gene.

Penetrance is another factor and determines the proportion of individuals carrying a particular variation of a gene that expresses. Not every person who inherits the mutated gene will show symptoms of the disease. The degree of penetrance varies between diseases and cannot be predicted by genetic testing.

Timothy syndrome is characterized by long QT syndrome and webbing of the skin between some fingers and or toes and autosomal dominant.

Most cases result from new mutations in the gene and occur in people with no history of the disorder in their family.

Hope I have answered your query. Let me know if I can assist you further.

Regards,
Dr. Tushar Kanti Biswas,
Internal Medicine Specialist
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