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Monday, March 10, 2014
Inherited Disorders and Birth Defects
Born Without a Hand
Hello! I wanted to know about the genetic defect when a baby is born without a hand (to the elbow have a hand). This is a large family that has 2 children with this defect (one boy and a girl).
What is the chance to have a child with a genetic defect? (a member wants to marry her). Thanks.
About 2-4% of all babies born each year are born with some type of birth defect. Most isolated birth defects, situations where there are no other problems or abnormalities present in the child, usually are not inherited but are due to a combination of genes and environmental influences during development.
However, if there are 2 children in a family with the same birth defect, then it could be genetic. Or if the children who are affected have other problems (sometimes very subtle) in addition to the abnormality of the hand, then it could be genetic and potentially something that is inherited.
The only way to know what the chance is to have a child with the same birth defect is to have the people who have this problem evaluated. You must know what the diagnosis is to be able to tell you about your chances to have children with similar problems.
I would recommend that the family who has the children with the hand abnormality talk to a geneticist or genetic counselor about the defect. By examining the hand, they may be able to be more specific about a cause. The family can locate a genetics center near them at the National Society of Genetic Counselors’ Resource Center website listed below.
Anne Matthews, RN, PhD
Associate Professor of Genetics
School of Medicine
Case Western Reserve University