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Inherited Disorders and Birth Defects

Omphalocele and hydrocephalus

09/14/2007

Question:

Is there any link between an omphalocele & hydrocephalus? I am asking because I had a brother who died of hydrocephalus at 8 months, another brother was moderately mentally retarded, and my son had minimal hydrocephalus when born. Later diagnosed with some cerebral palsy and very mildly retarded.  All the girls in our family seem fine, except my sister does have scoliosis quite bad.  Now my niece, (my sister`s only child) is pregnant and the baby has been diagnosed by ultrasound with a large omphalocele.  They have taken amniotic tests which will take a few days to get back.  Anyway, just seems too odd to me that we all have these problems with males in our family, although I do not yet know the sex of the omphalocele child.  My mother died when I was very young, so I cannot ask her, although she died when she was pregnant and had several miscarriages in her lifetime, as have I.  I have two grown daughters, both fine, one granddaughter, also fine, but I mentioned my son. (He is doing really great, though, is an automotive technician). Please let me know if there is any correlation between hydrocephalus and omphalocele.  Thanks 

Answer:

I do not know of a specific connection between omphalocele and hydrocephalus when each is an isolated birth defect (no other problems) in two different family members. Omphalocele can be associated with many genetic disorders as can hydrocephalus. And, there are some genetic disorders that include both an omphalocele and hydrocephalus as two of the findings in that disorder.

However, because of your family history, I would highly recommend that you talk to a geneticist or genetic counselor. When we see a family history that includes children born with birth defects, family members that have had miscarriages, mental retardation and other disorders such as hydrocephalus, there is a concern that there is an underlying genetic problem in the family. The only way for you to sort this out is to talk to a genetic counselor about your family history.

You can ask your doctor for a referral to a genetics center or you can locate a center near you at the National Society of Genetic Counselors Resource Center website listed below.

Related Resources:

National Society of Genetic Counselors Resource Center

For more information:

Go to the Inherited Disorders and Birth Defects health topic, where you can:

Response by:

Anne   Matthews, RN, PhD Anne Matthews, RN, PhD
Associate Professor of Genetics
School of Medicine
Case Western Reserve University