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Nail-Patella Syndrome

What is Nail-Patella Syndrome?

Nail-Patella Syndrome is a rare genetic disorder characterized by hypoplastic or absent patellae, dystrophic nails, dysplasia of the elbows, iliac horns, clubbed feet, glaucoma and kidney disease.

 

Nail-Patella Syndrome is a rare genetic disorder characterized by hypoplastic or absent patellae, dystrophic nails, dysplasia of the elbows, iliac horns, clubbed feet, glaucoma and kidney disease.
Acknowledgement of Nail-Patella Syndrome has not been added yet.
2.0http://www.orpha.net
Synonyms for Nail-Patella Syndrome has not been added yet.
Genetic mutation of the gene LMX1B on chromosome 9q34
Symptoms for Nail-Patella Syndrome has not been added yet.
Diagnosis of Nail-Patella Syndrome has not been added yet.
Diagnostic tests of Nail-Patella Syndrome has not been added yet
Treatments of Nail-Patella Syndrome has not been added yet.
Prognosis of Nail-Patella Syndrome has not been added yet.
Tips or Suggestions of Nail-Patella Syndrome has not been added yet.
References of Nail-Patella Syndrome has not been added yet.
Nail Patella Syndrome Created by mbryce
Last updated 10 Dec 2008, 09:50 PM

Posted by CarolJLF
10 Dec 2008, 09:50 PM

Hi Maria, I just found this community, so now you're not the only one here! Hopefully, some others find us, so we share our knowledge and experiences to help educate people with NPS, thier families and their medical professionals. Thanks for getting this group started! Carol

Posted by mbryce
5 Aug 2008, 12:33 AM

Well, it looks like I'm the only one in the NPS community! They say that NPS occurs I in 50,000. I belong to a great support group and interact whenever someone brings up something of interest. If you have NPS, email back and I can give you the website to go to. I'd never heard of NPS until about 2 1/2 yrs ago when my grandson was born. His little foot was all twisted up and he had the same kind of thumbnails as my daughter and I. I began a search on the web about club foot and strange thumbnails. Low and behold, I found all this information on NPS. It was really amazing! I guess that's all. I hope I don't remain the only one in the community. That would really suck!

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Researchers can contact CoRDS to determine if the registry contains participants with the rare disease they are researching. If the researcher determines there is a sufficient number of participants or data on the rare disease of interest within the registry, the researcher can apply for access. Upon approval from the CoRDS Scientific Advisory Board, CoRDS staff will reach out to participants on behalf of the researcher. It is then up to the participant to determine if they would like to join the study.

Visit sanfordresearch.org/CoRDS to enroll.

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Nail Patella Syndrome

Created by mbryce | Last updated 10 Dec 2008, 09:50 PM


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