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Friday, October 31, 2014
Inherited Disorders and Birth Defects
Bilateral single palmar creases-newborn
My 2 month old was born with bilateral single palmar creases and folded ears. I believe she also has only a single line on both feet as well. Should I be concerned? My doctor says I should not be but all the research suggests there could be a problem that is not necessarily evident at birth or even within the first months or years of life. How can I know for sure if something is wrong? A karotype? If so then how is it done , by getting a blood sample? She seems normal. She is growing at a very good rate she started off at just 6lbs and is now 10 lbs and 12 ounces and 22 inches long (she was 19 inches at birth.)
A single palmer crease or simian crease is a single transverse crease across the palm of the hand which can be a normal variation of palmer creases. About 4% of the general population has a single palmer crease on one hand and about 1% will have it on both palms. Bilateral single palmer creases are also seen in children with Down syndrome. However, less than half of the children diagnosed with Down syndrome will have single palmer creases. Moreover, children with Down syndrome or other genetic disorders usually have additional problems.
A karyotype is a way of displaying someone's chromosomes. It is done as a blood test. While your daughter seems to be growing appropriately, if you are concerned about your daughter's minor features (the single palmer creases and folded ears) you might want to talk to a geneticist or genetic counselor about these issues. You can ask your daughter's doctor for a referral or you can find a genetics center near you at the National Society of Genetic Counselors' Resource Center at the website below.
Anne Matthews, RN, PhD
Associate Professor of Genetics
School of Medicine
Case Western Reserve University