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Forum Name: Obstetrics

Question: Zellweger's Syndrome


 JPerry1980 - Sun Aug 09, 2009 11:43 pm

I am not for certain if this is the right forum to ask this or not, if this is not please point me in the right direction. I was born in 1980 healthy and without any issues. However, my little brother was born in 1982 with Zellweger's Syndrome and passed away at the age of 7 days after fighting for every breath of his life. The doctor's were split between Zellweger's Syndrome and "Idiopathic Congenital Chirrosis", but there was a high probability that it was Zellweger's. As the only male heir in my family with the chance of passing on children, and I want to be a dad one day and to carry on my family name, what are the chances that children that I may have if I marry and decided to have children will suffer from this same syndrome? Is there any type of preventive care that I can take as a father? Thank you so much for your consideration. -- j.
 Debbie Miller, RN - Wed Sep 02, 2009 3:49 pm

User avatar Hello,
This is such a rare disorder there is not much known about it. You could seek genetic counseling, often available in connection with University Hospitals and other researchi institutions when you are contemplating parenthood.

There is also an organization that deals with rare and "orphan" diseases. You can read about them here: http://www.rarediseases.org (look for the index on the left sidebar - alphabetical by disease). They state that Zellweger spectrum disorders are inherited as autosomal recessive traits.

This means it appears only in those who have received two copies of the gene - one copy from each parent. The gene is on a nonsex chromosome. The parents are carriers who have only one copy of the gene and do not exhibit the trait because the gene is recessive to its normal counterpart gene.

If both parents are carriers, there is a 25% chance of a child inheriting both abnormal genes and, consequently, developing the disease. There is a 50% chance of a child inheriting only one abnormal gene and of being a carrier, like the parents, and there is a 25% chance of the child inheriting both normal genes.

Seeing a genetic specialist is only going to be helpful if you also have the mother-to-be involved since both of you would need to have this gene in order for it to appear in your offspring. This kind of testing is limited in which genes are screened and may be expensive.

Best wishes.

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