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Nail Patella Syndrome: more detail

Nail Patella Syndrome: A Medical Dictionary, Bibliography, And Annotated Research Guide To Internet References by Icon Health Publications, 2004-04-30

Gale Encyclopedia of Medicine: Nail-patella syndrome by Judy C. Hawkins MS, 2002-01-01

Nail-Patella Syndrome: An entry from Gale's Gale Encyclopedia of Medicine, 3rd ed. by John, PhD Lohr, Judy, MS Hawkins, 2006

Nail-Patella Syndrome

Nail-patella syndrome: An entry from Thomson Gale's Gale Encyclopedia of Genetic Disorders, 2nd ed. by John Lohr, Judy, MS Hawkins, 2005

Nail-patella syndrome: An entry from Thomson Gale's Gale Encyclopedia of Children's Health: Infancy through Adolescence by Judith, MS Sims, John, PhD Lohr, et all 2006

lists with details

Nail Patella Syndrome Worldwide
The home page of NailPatella Syndrome Worldwide, the only non-profit serving the needs of people with Nail-Patella Syndrome. Includes information on the syndrome and the work of the organization.
http://www.nailpatella.org
Nail-Patella Syndrome - Rare Disorders - Medstudents
A review about nail-patella syndrome, including the genetics, incidence, pathophysiology, signs and Category Health Conditions and Diseases nail patella syndromeA review about NailPatella Syndrome, including the genetics, incidence, pathophysiology,signs symptoms, and prognosis. Nail-Patella Syndrome. Introduction.
http://www.medstudents.com.br/raredi/raredi3.htm

Extractions: Medstudents' Homepage Nail-Patella Syndrome is also known as Iliac Horn Syndrome, Hereditary Onychoostedysplasia, Fong Disease or Turner-Kiser Syndrome. It is a rare multisystem genetic disorder. The incidence of NPS is about 2-3/100.000 births and it havent any ethnic prevalence. Inheritance occurs as an autossomal dominant trait linked to ABO blood group locus. The risk of transmitting the disorder from affected parent to offspring is 50% , regardless of the sex of the child, with females being affected 10% more often. It is already determined that an abnormality on chromosome 9q34 is involved with NPS , but the exact gene is not identified yet. The complete pathophysiology underlying NPS is not known. Probably, the musculoskeletal abnormalities are involved with synthesis, assembly, or degradation collagen disorder. Renal histology changes by light microscopy are nonspecific, with localized thickening of the capillary wall. Focal glomerular deposits of IgM and C3 may occur. The characteristic ultrastructural changes are localized areas of rarefaction of the glomerular basement membrane, with intramembranous deposits having the appearance and periodicity of collagen. There isnt a exact period to presentation of NPS signs and symptoms, although it is much more common during childhood. They can be identify in two different systems :
Classic Manifestations
A patientwritten site offering relevant medical information, photos, x-rays, discussion/support group, Category Health Conditions and Diseases nail patella syndrome nail patella syndrome, A Thumbs Up (TM) Look At NPS, My name is Carol Ferensak. Clickon my picture to read my personal NPS story, About nail patella syndrome
http://hometown.aol.com/PACALI/npspage.html

Extractions: htmlAdWH('7008222', '120', '30'); htmlAdWH('7004796', '234', '60'); Main Create Edit Help Providing reliable NPS information, networking and support since September 1995! Nail Patella Syndrome A Thumbs Up (TM) Look At NPS 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 '96, 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
Original NPS Page
Informational site about a rare genetic disorder called nail patella syndromewhich involves deformities of the fingernails, knees, elbows.
http://members.aol.com/PACALI/
Nail-Patella Syndrome
Nail-patella syndrome definition and treatment information, including surgery. A discussion about Category Health Conditions and Diseases nail patella syndromeNailPatella Syndrome defined and treatment information, includingtreatment and surgery at the UM Kellogg Eye Center.
http://www.kellogg.umich.edu/conditions/glaucoma/nailpatella.html

Extractions: Definition Nail-Patella syndrome (NPS) is a rare genetic disorder that causes abnormalities of bone, joints, fingernails and kidneys. NPS is commonly characterized by absent or under-developed kneecaps and thumbnails. It is estimated to occur in one in 50,000 newborns. Researchers at the U-M Kellogg Eye Center have found strong evidence of a link between glaucoma and NPS. A research study was initiated after Paul Lichter, M.D., noticed a glaucoma patient had no thumbnails and recalled the patient's mother, whom he had treated years earlier, also lacked thumbnails. Both patients had NPS in addition to glaucoma. Other family members were subsequently examined, and some who previously were unaware of NPS were diagnosed with the disorder. Lichter's research team examined 24 people with Nail-Patella syndrome in two families and found that more than half of them suffered from glaucoma. "As a result of these findings, we recommend people with Nail-Patella syndrome have regular ophthalmologic exams so glaucoma can be diagnosed and treated as early as possible," said Lichter, who is chairman of the University of Michigan Health System's Department of Ophthamology and director of the W.K. Kellogg Eye Center. The gene which mutates to cause NPS is located on a portion of chromosome 9 called 9q34. The U-M study provides indirect evidence that glaucoma-related genetic material is located at that same chromosomal site. It's not clear, however, whether glaucoma results from the NPS mutation or from a separate but closely linked gene.
HNF #839 NAIL-PATELLA SYNDROME
Information about nail patella syndrome, what it is, a look at the gene, and links to resources and support groups.
http://www.hopkinsmedicine.org/healthnewsfeed/hnf_839.htm

Extractions: A genetic misfire can cause some rather exotic disorders. One of the most unusual is called nail-patella syndrome. Occurring once in about every 50-thousand births, NPS results in the abnormal growth of fingernails, toenails, even kneecaps. In extreme cases, people with NPS have no knee caps or nails whatsoever. Even more puzzling, the syndrome also appears to be linked to serious kidney problems and even glaucoma in the eye, although researchers don't know why. Recent studies with mice strongly suggest that a single gene causes nail-patella syndrome. Johns Hopkins medical geneticist Dr. Iain McIntosh says it begins to develop at about 9 weeks into gestation. So in many cases, before a woman even knows she's pregnant, the mistakes', so to speak, have already happened in the embryo. As we learn more about what the gene is doing in kidney and eye, then it may be possible to do something to alleviate those more serious symptoms. :14 Dr. McIntosh says it could be awhile before science can determine whether any of its defects are reversible.
Nail-Patella Syndrome
NailPatella Syndrome support groups, clinics with genetic counselors and geneticists Nail-Patella Syndome, Johns Hopkins. nail patella syndrome, Contact a Family, United Kingdom
http://www.kumc.edu/gec/support/nail_pat.html
David's NPS Page
A British page written by a spouse and parent of nail patella syndrome patients, giving a brief description of the syndrome and some links to further information.
http://www.btinternet.com/~david.g0tlt/nps/nps.html

Extractions: Nail Patella Syndrome You may be wondering why I have decided to include this subject on my web page, and the reason is, My wife and 2 children have Nail Patella syndrome, and another rare genetic disorder called Hereditary Motor and sensory neuropathy . Below is a brief description on what the disorder is, and a couple of links to some very useful information concerning NPS. About Nail Patella Syndrome Nail Patella Syndrome is a rare genetic disorder involving deformities of the nails, bones and sometimes, kidneys. It is transmitted as a simple autosomal dominant characteristic in the AB blood group. The gene for NPS is located on Chromosome 9q34. Classic manifestations include the absence or underdevelopment of finger and toe nails, especially the thumbnails. The skin on the hands and fingers is often "wrinkled" and loose, but sometimes smooth over the distal joint. NPS also often includes deformities of the knee joint (giving the knee a "square" look) and absence or hypoplasia of the kneecaps (patella). The pelvic bone may also have iliac "horns" or "spurs" which are internal and are generally only detected by x-rays Deformities of the elbows are also often present. The dislocation of the joint causes the angle of the elbow to be "bent". Kidney problems can also be associated with NPS. It was originally thought that kidney disfunction was present in about half of all NPS cases, but it has been shown in later studies, that only about 10% are affected, and they are not usually serious problems.
Nail Patella Syndrome
nail patella syndrome ( NPS ), My daughter Alia was born with a rare genetic disordercalled nail patella syndrome ( NPS for short), other names for NPS are..
http://hometown.aol.com/sumrwulf/

Extractions: Let me introduce myself, my name is Laura and I live in Nevada, originally coming from Southern California. I have 3 children, 2 boys and a girl. My daughter Alia was born with a rare genetic disorder called Nail Patella Syndrome ( NPS for short), other names for NPS are.. Iliac Horn Syndrome, Fong Disease, Turner-Kieser Syndrome and OnychoOsteodysplasia. It is a rare multisystem genetic disorder that affects approximatley 2.2 out of every 100,000 people. The symptons vary, and include nail and skeletal deformities, kidney problems such as "spilling" of protein and end stage renal failure. Vision problems related to NPS are cataracts and glaucoma, if left untreated, glaucoma can cause blindness. There are several other symptons related to NPS, I will list those at the end of this page along with contacts and references. In 1997 after being refered by two medical doctors to a Geneticist, Alia was finally diagnosed with having Nail Patella Syndrome. Before the appointments to all these doctors I had looked up the
The Contact A Family Directory - NAIL-PATELLA SYNDROME
Increased fluid pressure within the eye (Glaucoma) may occur in some peoplewith nail patella syndrome. NAILPATELLA SYNDROME CONTACT GROUP.
http://www.cafamily.org.uk/Direct/n15.html

Extractions: printer friendly NAIL-PATELLA SYNDROME home more about us in your area conditions information ... how you can help search this site Nail-Patella Syndrome: Hereditary-Osteo-Onycho-Dysplasia (HOOD): Fong's Disease This is a rare inherited condition, and those affected have small or absent kneecaps, and underdeveloped, brittle or ridged nails. There can be mild or moderate contractures around the joints, particularly at the elbows, where there can be dislocation of the elbow joint. Some joints, instead of having contractures, can be more mobile. Children with the condition can be born with club foot (talipes). Surgery to correct joint problems is sometimes required. In the eyes, the irises are normally shaped, but show an unusual "shamrock" pattern of colour. Kidney problems can occur in some people when they are adults, with leakage of protein in the urine, and sometimes limb swelling (oedema). Sometimes a kidney biopsy is necessary to establish the degree of renal disease. It is unusual for kidney failure to occur in nail-patella syndrome. Increased fluid pressure within the eye ( Glaucoma ) may occur in some people with nail patella syndrome.
Nail Patella Syndrome
by Anna V. Anagnostopoulos MAY 1998. Lmx1b Knockouts the nail patella syndrome.nail patella syndrome Synonyms OMIM Phenotypes nail patella syndrome; NPS1.
http://tbase.jax.org/docs/nail.html

Extractions: by Anna V. Anagnostopoulos Nail Patella Syndrome Synonyms May 1998 features mice harboring a targeted disruption of the murine gene encoding the LIM homeo box transcription factor 1B. To investigate the role of murine in limb development, Chen et al., , generated mice harboring a targeted deletion of the second LIM domain, the homeodomain, and most of the carboxy-terminal region of Lmx1b (exons 3-7). Lmx1b homozygous null mice show prominent phenotypic features which are reminiscent of the abnormalities encountered in the nail-patella syndrome , such as absence of nail and patella, skeletal dysplasia, dorsal-ventral conversions and renal insufficiency. KNOCKOUT-RELATED SITES History Selected Reading Database Links Miscellaneous Sites ... Your Suggestions on this Feature History Dreyer et al., provide evidence that the human gene maps to the NPS locus and that three independent NPS patients harbor de novo heterozygous mutations for this gene. These data, in conjunction with the characteristic limb and kidney abnormalities reported in Lmx1b-null mice by Chen et al.,
Nail-Patella Syndrome / Family Village
nail patella syndrome Worldwide 1658 E. Capitol Expressway PMB 212 San Jose,CA 95121 Email npsw@nailpatella.org Web http//www.nailpatella.org/.
http://www.familyvillage.wisc.edu/lib_nail-patella.html
Nail Patella Syndrome - Hands
nail patella syndrome Hands. The severity of the nail dysplasiadecreases from thumb to fifth finger Note also the clinodactyly
http://www.hopkinsmedicine.org/nps/hands.html

Extractions: Nail Patella Syndrome - Hands The severity of the nail dysplasia decreases from thumb to fifth finger: Note also the clinodactyly of the fifth finger, the triangular lunulae and lack of creases over the distal joints of fingers 2-5. Detail of nail dysplasia on thumb: The severity of nail dysplasia is extremely variable. Nails may be small and concave, longitudinally grooved, abnormally split, pitted, softened, discoloured, or brittle. Toe nails are usually less affected than finger nails. Click to see NPS knees Click to see NPS pelvis Click to see NPS elbows Return to home page.
HealthlinkUSA Nail Patella Syndrome Links
Try it, you'll love it! AhHa. Click here for page 1 of nail patella syndromeinformation from the HealthlinkUSA directory. Save on Drugs Here.
http://www.healthlinkusa.com/nail_patella_syndrome.htm
Nail Patella Syndrome; Treatment, Prevention, Cure
nail patella syndromeSearch information from many of the best Nail PatellaSyndrome health sites. nail patella syndrome Support Group.
http://www.healthlinkusa.com/content/218.html
Nail-Patella Syndrome
Mutation analysis of LMX1B gene in nail patella syndrome patents. . Back to theTop. Support Groups nail patella syndrome Worldwide. www.nailpatella.org.
http://www.mssc.edu/biology/B305/GTS/ss99/nail/nail.htm

Extractions: Nail-Patella syndrome, also known as Onychoosteodysplasia, Turner-Keiser syndrome, and Fong Disease, is a genetic disease characterized by the dysplasia of the fingernails and absent or hypoplastic patellae. Other conditions associated with Nail-Patella Syndrome are nephropathy, recurrent urinary tract infections, skin edema, decreased pronation and suppination, iliac horns, a cleft lip/palate and proteinuria. And recent studies have indicated a higher incidence of glaucoma in Nail-patella Syndrome sufferers. ( Often the severity of the nail dysplasia increases in the thumb and forefinger with the other three fingers being relatively unaffected. Another common condition of Nail-Patella Syndrome hand is the lunula of the fingernails have a pointed appearance. (
GW Pharmaceuticals - Cannabis-based Medicines - Therapeutic Applications - Nail
Therapeutic Applications nail patella syndrome. nail patella syndrome(NPS) is nail patella syndrome. nail patella syndrome (NPS) is
http://www.gwpharm.com/cann_ther_nail.html

Extractions: Patient Letters and Testimonies Nail Patella Syndrome Nail Patella Syndrome (NPS) is a rare, neurological disease that affects the joints, limits mobility, and causes brittle bones. Victims suffering from NPS also endure muscle cramps, spasms and chronic pain. This genetic disorder is estimated to affect several hundred people in the United States. Iowa patient George McMahon uses federally approved medical cannabis to treat symptoms of NPS. He is one of only eight U.S. patients certified by the government to smoke marijuana medicinally. ( ) He maintains that inhaling cannabis abates his pain and discomfort more effectively than any prescription drug or combination of drugs. "Unlike other individuals who get giggly and high after smoking marijuana, I just fe[el] better," McMahon testifies. "My muscles stop going into spasms, the unbearable pain … leave[s], and my body relax[es.]" ( Although other members of McMahon's family also suffer from NPS, they may not use cannabis legally because the federal program that provides it to McMahon is no longer open to new applicants.
Nail Patella Syndrome Worldwide, Inc.
nail patella syndrome Worldwide is a federally recognized nonprofit organizationdedicated to the support of individuals with nail patella syndrome.
http://www.geocities.com/nailpatella_syndrome_worldwide/nonprofit.html

Extractions: Nail Patella Syndrome Worldwide is a federally recognized nonprofit organization dedicated to the support of individuals with Nail Patella Syndrome. Words from the Director / Board of Directors Information and Announcements Organization History In March 2000, the decision was made to actively pursue nonprofit status, and we have been inching forward since that time. In July 2000, interim committee heads were nominated and approved at the convention in Arlington, Texas. Since then, great strides have been made to move this group forward, thanks to the dedication and commitment from a great number of people. In July, 2001 at the convention in Palmdale, California, the first official Board of Directors was voted into office. The committees within the nonprofit have been hard at work since the Medical Conference held in Palmdale, California, in July of 2001. The revised Medical Brochure will go to print soon, giving people with NPS valuable information for both themselves and their physicians.
Nail Patella Syndrome
nail patella syndrome. nail patella syndrome information concerning treatment,prevention, diagnosis, email groups, support groups, personal stories.
http://www.ability.org.uk/Nail_Patella_Syndrome.html

Extractions: Our Aims Services Stats ... Z Nail Patella Syndrome Nail Patella Syndrome - information concerning treatment, prevention, diagnosis, email groups, support groups, personal stories. Nail Patella Syndrome -A Patient-written site about a genetic syndrome that affects the joints, eyes and kidneys with links to other resources. Limb Anomalies Webmaster . Site Design by Ability "see the ability, not the disability" Acknowledgments
Nail Patella Syndrome Articles, Support Groups, And Resources
nail patella syndrome articles, support groups, and resources for patientsfrom Med Help International (www.medhelp.org). nail patella syndrome.
http://www.medhelp.org/HealthTopics/Nail_Patella_Syndrome.html

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