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Thursday, November 27, 2014
Inherited Disorders and Birth Defects
I have NF1 and have three kids but only two of them have the cafeaulait spots, my son has a few he is 4 years old and my 4 month old has more than him, what are their chances of having it and what kind of specialist should they see and at what age should they go?
Thank You - A concerned mom
Neurofibromatosis type 1 - NF1 - is an inherited condition 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, which you mention that both your children have. Other findings of NF 1 include 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 of these findings can be seen in an infant, but most develop over time and may not develop until school age.
Some people with NF1 will also have learning disabilities. They can also have scoliosis (curvature of the spine) or other bone problems.
NF 1 is inherited as an autosomal dominant disorder and is caused by changes (mutation) in a gene called neurofibromin (the NF1 gene). This means that anyone who has a mutation in the NF1 gene has the disorder and has a 50/50 or 1 out of 2 chance of passing it on to each child that person has. On the other hand, there is a 50/50 chance that they will not pass on the gene change and those children will not be affected. If you have NF1, then your 2 children with café au lait spots could have inherited the mutation in the NF1 gene and will have NF. So someone with NF can have both children who are affected and children who are not affected.
But, because there are other reasons why someone may have café au lait spots, it would be important to have your children evaluated for NF1. I would recommend that you see a geneticist to see if any of your children have NF1. You can ask your doctor for a referral or locate a genetics center near you at the National Society of Genetic Counselors Resource website listed below.
Anne Matthews, RN, PhD
Associate Professor of Genetics
School of Medicine
Case Western Reserve University