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toggle navigation home contact contact form email about us misc -- home info nps what is nps medical info newsletter links support fundraising photo album -- download videos -- map × use every click close -- if you are new to the site then it is highly likely that you have recently found out that you or somebody you know may have nail patella syndrome. the first thing that we need to say is ‘don’t panic’. most people that have the condition lead a perfectly normal life. when you first hear of the range of symptoms that may be associated with nail patella syndrome please remember that you are unlikely to experience all of them and each symptom can vary in severity. in order to provide complete information there are detailed medical papers repeated on this site. please remember that the examples shown or referred to are the most extreme examples as they demonstrate the medical issues more clearly. we strongly recommend that rather than researching the condition yourself you do so through your own doctor who will be able to put things into context. the defective gene which causes nail patella syndrome was identified by dr iain mcintosh in 1998. working together with dr. elizabeth sweeney they were able to provide considerable evidence of the symptoms connected with the condition. dr sweeney went on to examine many of the people known to have the condition in the uk and to codify the various symptoms and determine the frequency of occurrence of each. the following links will open dr sweeney’s presentation to the last conference setting out a comprehensive account of nail patella syndrome.   --   --   -- when nail patella syndrome uk was formed in 2003 there was very little knowledge amongst the average general practitioners (doctors) of the condition. at that stage the main function of this organisation was to raise awareness and to organise conferences. in recent years we have worked together with the national health service to raise the profile of nail patella syndrome. we are pleased to report that the nhs choices website now contains information about nail patella syndrome and has important links to the various services provided which include confirmation of diagnosis, genetic counselling and testing of kidney function. it is a major step forward that doctors can now reference the condition on the nhs choices website. as part of the european council recommendation on rare diseases we have submitted input to the uk plan for rare diseases. we are encourage by the initial findings that centres of excellence need to be established to provide expert care with practitioners having a workload which enables them to maintain regular experience of rare diseases. this is needed in order that each operation on a patient is not a step into the unknown. it may take some time to enact any legislation arising from this consultation and thus we are pleased to report that professor tim briggs at the royal national orthopaedic hospital in stanmore, middlesex is prepared to accept nhs referrals now. we hope to establish one such centre of excellence for the treatment of nail patella syndrome. there are now several facebook groups within the nps community. some people like them and others find them less helpful. as one might expect there is a lot of discussion about symptoms (aches and pains) and people find it difficult to point out their achievements but they are an excellent vehicle for arranging to meet others with the condition. we do try to support each other. if you would like to have an introduction to a facebook group please e-mail kathlovatt [email protected] brian sugden chairman nps uk     -- © copyright 2003 - 2017 | nail patella syndrome uk, registered charity 1095621 | all rights reserved | terms of use | privacy policy

URL analysis for npsuk.org

http://www.npsuk.org/privacy.html
http://www.npsuk.org/links.html
http://www.npsuk.org/fundraising.html
http://www.npsuk.org/terms.html
http://www.npsuk.org/contact_form.html
http://www.npsuk.org//video_2.html
http://www.npsuk.org/what_is_nps.html
http://www.npsuk.org/phone.html
http://www.npsuk.org/newsletter.html
http://www.npsuk.org/index.html
http://www.npsuk.org/map.html
http://www.npsuk.org//video_1.html
http://www.npsuk.org/medical_info.html
http://www.npsuk.org/about_us.html
gov.uk

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WHOIS LIMIT EXCEEDED - SEE WWW.PIR.ORG/WHOIS FOR DETAILS

  REFERRER http://www.pir.org/

  REGISTRAR Public Interest Registry

SERVERS

  SERVER org.whois-servers.net

  ARGS npsuk.org

  PORT 43

  TYPE domain

  REGISTERED unknown

DOMAIN

  NAME npsuk.org

NSERVER

  NS3.LIVEDNS.CO.UK 213.171.192.254

  NS1.LIVEDNS.CO.UK 213.171.192.250

  NS2.LIVEDNS.CO.UK 213.171.193.250

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