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Providing reliable NPS information, networking and support since September 1995!
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Nail Patella Syndrome
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Look At NPS
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My name is Carol Ferensak. (e-mail: PACALI@aol.com) and I have a rare congenital disorder called Nail Patella Syndrome.It is very dominant in the maternal side of my family, with about 50% of us having it. I have recently located some distant relatives with NPS and by combining my genealogy with theirs, I have been able to trace the NPS in our family back as far as the 1600s! I began researching Nail Patella Syndrome in Sept '95, and in the process of searching for information I have located quite a few other people that also have it. In talking with each other we have found that although our symptoms vary tremendously, we have much in common. Before we found each other, most of us had never heard of anyone else that had it except our own families! (And some, called spontaneous mutations, don't even have other family members with it!) So, it was really exciting to find others...to share our stories, our problems, our concerns and personal information about this unique disorder. We now have a loose-knit networking/support group of people with NPS on the internet where we enjoy communicating and sharing our NPS history, etc. We have filled our first guestbook with 200 NPS stories from all over the world, and we have now started a new guestbook. CLICK HERE TO READ THE ORIGINAL GUESTBOOK and/or CLICK HERE TO READ THE NEW GUESTBOOK... and please SIGN THE NEW GUESTBOOK with your own story.... And feel free to contact any of the others that have told their stories. If the guestbook isn't working, as is sometimes the case, please e-mail me with your story and put "Guestbook Entry" in the subject.
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About Nail Patella Syndrome ...
Nail Patella Syndrome is a rare genetic disorder involving nail and skeletal deformities (among a host of other related anomalies) that occurs in approximately 2.2 out of every 100,000 people. It is transmitted as a simple autosomal dominant characteristic in the ABO blood group (Autosomal dominant means that you only have to inherit one copy of the gene to get it). It also means that there is no such thing as an unaffected carrier, and NPS CAN NOT skip a generation.
In cases where there seems to be no previous family history of NPS, it is thought to be caused by a sporadic gene mutation (which is probably how it began in all families at one time or another). Once NPS is in a family, the risk of transmitting the disorder from parent to offspring is 50% for each pregnancy, regardless of the sex of the child, with females being affected approximately 10% more often.
The gene for NPS, which was just recently discovered, is located on Chromosome 9q34 and is called LMX1B. CLICK HERE to read a really interesting article on pre-implantation diagnosis of NPS, a technique that might be helpful to some of us someday.
Other names for Nail-Patella Syndrome include NPS, Iliac Horn Syndrome, Hereditary Onycho Osteo Dysplasia (HOOD), Fong Disease and Turner-Kieser Syndrome.
Classic manifestations include ...
Click on the links to see photos and/or x-rays
* NAILS - The nails are usually the most noticeable of the skeletal defects.
There is usually an absence or underdevelopment of fingernails (and sometimes, the
toe nails). Generally the thumbnails are the most severely affected, graduating to less
severe on the pinky fingernails. The fingernail deformities seem to vary tremendously.
Some people have brittle, underdeveloped, cracked or ridged nails while others are
absent entirely. They are often concave, causing them to split, flip up and catch on clothing, bedding, etc. Often times, the "lunalae" (which are the light parts of the
nail near the cuticle) are pointed, as opposed to being rounded, crescent "half-moons"
on non-NPS people. THUMB | |||||||||||||||||||||||||||||||