Tuesday, February 11, 2014

Marks and Finlay Syndrome (Scalp, Ear, and Nipple Syndrome)

We recently got a few answers about what is going on with our little one from a pediatric genetic specialist Dr. John Carey at Primary Children's Hospital. He is not certain that little brother's hernias(inguinal, umbilical, and Morgagni diaphragmatic)are related, but he does know without a doubt that my husband, daughter, and son all have genetic characteristics for Mark and Finlay Syndrome also known as scalp, ear, and nipple syndrome.
 They all had similar traits as babies! 
What is Mark and Finlay Syndrome(Scalp, Ear, and Nipple Syndrome)? It is a syndrome related to aplasia cutis congenita, which is a scalp condition. According to Wikipedia, Scalp, Ear, and Nipple Syndrome is described as the following:
The key affected features of this condition are described in its name.
Scalp: There are raised nodules over the posterior aspect of the scalp, covered by scarred non-hair bearing skin.
Ears: The shape of the pinnae is abnormal, with the superior edge of the pinna being turned over more than usual. The size of the tragus, antitragus and lobule may be small.
Nipples: The nipples are absent or rudimentary. The breasts may be small or virtually absent.
My husband has aplasia cutis congenita (a scalp defect), the abnormal but cute ears, and accessory nipples (a second set),which we are not sure if it's related. As for my daughter (little sis), she has the abnormal but darling ears and an underdeveloped kidney, which is common in people with this syndrome. Her kidney stopped growing after birth, but remarkably it is still functioning, which we found out in 2010 after she had a kidney infection. Lastly, little brother like his father has aplasia cutis congenita, abnormal but adorable ears. So far no problems with his nipples, but he had many hernias, which we question is related to this syndrome or another one that we have not identified yet.
Father and Son's scalps
Look at those cute ears!
In the next few months, my husband, daughter, and son will be participating in a future research study in Washington by Dr. Michael J. Bamshed. Yes, that means they will be sharing a swab of their DNA for genetic specialists to analyze!

1 comment:

jennag24 said...

I also was born with Finlay-Marks Syndrome. My ears weren't affected, but I had cutis aplasia and amastia (all fixed with surgeries). It's nice to see I'm not alone! :)
Your babies are beautiful by the way! :)