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Thursday, August 21, 2014
Inherited Disorders and Birth Defects
My four-month-old daughter was recently referred to a nuerologist for testing for Neurofibromatosis. Is there any known connection between neurofibromatosis and babies born with a single umbelical artery?
I do not know of any specific connection between a single umbilical artery and neurofibromatosis. The umbilical cord should have 2 arteries and 1 vein. However, having only 1 artery (sometimes called a 2 vessel cord) is a fairly common finding - about 1 in 100 births. It can be found alone or sometimes with other birth defects, but it usually is not part of neurofibromatosis.
Neurofibromatosis (NF1) is an inherited genetic disorder that can affect the skin, the nerves and other systems such as the eyes. People with NF1 usually have a number of café au lait spots - these are coffee colored flat birth marks, freckles in the armpits and groin, multiple small tumors of the skin called neurofibromas, and small brown bumps in the iris - the area of the eye that has pigment/color (called Lisch nodules). Some people with NF1 will have learning disabilities. They can also have scoliosis (curvature of the spine) or other bone problems. Many of these findings are not present at birth, but develop over time. Also, not all of the findings develop in everyone with NF1.
NF1 runs in families and is inherited as an autosomal dominant disorder. Anyone with the gene mutation (change in the gene) that causes NF1, has a 50% chance of passing the gene on to each child. Because it is so variable - someone with NF1 may not know they have it until someone else in the family is diagnosed with it.
In addition to the neurologist, I would highly recommend that you speak to a geneticist or genetic counselor to discuss the inheritance of NF1 along with who else in the family may be at risk for NF1. You can locate a genetics center near you at the National Society of Genetic Counselors' Resource website below.
Anne Matthews, RN, PhD
Associate Professor of Genetics
School of Medicine
Case Western Reserve University