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Genetics  (Expert Forum)
 | 
Ear Pits
Answered by
Lisa Kessler, MS, CGC - Hereditary Disorders, hemochromatosis, Patient Outreach
DNA Direct
This forum is for questions and support regarding Genetics. This forum is for questions and support regarding a person’s predisposition to a variety of medical conditions such as Alzheimer’s Disease, Blood-clotting Disorders, Breast Cancer, Cystic Fibrosis, Diabetes, Marfan Syndrome, Ehlers-Danlos Syndrome, etc.

Ear Pits

by ALybella, Feb 08, 2008 10:33AM
My daughter was born with bilateral ear pits.  She is now 4 and has been in perfect health, thank God.  She had one instance of a UTI shortly after a stomach bacterial infection.  Her urethra became irritated with the bacteria.  All other urinalysis have always been perfect.  I am concerned about kidney problems.  The doctor said nothing to worry about those have been checked prenatally I guess and were all within limits.  I can't stop worrying after reading about the connection of ear pits and kidney damage.  She is within the 90 th percentile in weight and height.  No kidney problems with me, dad, or grandparents.  No other siblings with ear pits.  She also has no haering issues.

can ear pits come along with no renal problems?  I don't want to ahve her put through unnecessary testing?  Please help.  

by Lisa Kessler, MS, CGC, Feb 11, 2008 08:45PM
It sounds like your daughter is doing great.  Ear pits are one of the most common minor problems with the ear and affect 5-6 per 1000 births.  Ear pits can occur as an isolated finding, as part of a genetic syndrome, or can be associated with renal problems.   Depending on any other findings, a renal ultrasound is sometimes pursued.  I am not sure about the types of prenatal testing that you have may had with your daughter, but a typical prenatal test such as an amniocentesis or chorionic villus sampling (CVS) provides information about the chromosomes of the pregnancy.  This would not automatically rule out the various genetic syndromes that can be associated with ear pits.  

One study looked at the association of ear problems and whether or not to pursue renal ultrasound.  This research found that in patients with preauricular ear pits plus 1 or more of the following features should have a renal ultrasound.  The additional features include: other birth defects or dysmorphic features, family history of deafness, kidney or ear problems, or a maternal history of gestational diabetes.  I hope that this information is helpful for you and your family.    
Member Comments (2)

by tesnichaj, Mar 19, 2008 07:30PM
To: Lisa Kessler, MS, CGC
My son has an ear pit and it has become swollen and it hurts him. Should I take him to the emergency room? He is 4 yrs. old and he has never had a problem with it before this.
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