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         Nail Patella Syndrome:     more detail
  1. Nail Patella Syndrome: A Medical Dictionary, Bibliography, And Annotated Research Guide To Internet References by Icon Health Publications, 2004-04-30
  2. Gale Encyclopedia of Medicine: Nail-patella syndrome by Judy C. Hawkins MS, 2002-01-01
  3. Nail-Patella Syndrome: An entry from Gale's <i>Gale Encyclopedia of Medicine, 3rd ed.</i> by John, PhD Lohr, Judy, MS Hawkins, 2006
  4. Nail-Patella Syndrome
  5. Nail-patella syndrome: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by John Lohr, Judy, MS Hawkins, 2005
  6. Nail-patella syndrome: An entry from Thomson Gale's <i>Gale Encyclopedia of Children's Health: Infancy through Adolescence</i> by Judith, MS Sims, John, PhD Lohr, et all 2006

81. University Of Michigan Kellogg Eye Center
nailpatella syndrome. Definition nail-patella syndrome (NPS) is a rare genetic disorder that causes abnormalities of bone, joints, fingernails and kidneys.
http://www.kellogg.umich.edu/patientcare/conditions/nail-patella.html
Among those who are at a higher risk for glaucoma are African Americans over age 40, everyone over age 60, and anyone with a family history of glaucoma.
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Eye Conditions A-D E-M ... Frequently Asked Questions Nail-Patella Syndrome Definition Symptoms Treatment Clinic Information 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.

82. Nail-patella Syndrome
Patients who have nail-patella syndrome show a variety of physical defects. Among......nailpatella syndrome. Definition nail
http://www.chclibrary.org/micromed/00057730.html

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Definition Description Causes ... Resources
Nail-patella syndrome
Definition
Nail-patella syndrome, also known as onychoosteodysplasia, is a disease of the connective tissue that produces defects in the fingernails, bone joints, and kidneys. Description
Patients who have nail-patella syndrome show a variety of physical defects. Among these are missing or poorly developed fingernails and patellae (kneecaps), a dislocated radius (one of the forearm bones) at the elbow, or an abnormally shaped pelvis bone (hip bone). Kidney (renal) disease is also seen. There are also other effects, such as thickening of the basement membrane in the skin and of the tiny clusters of capillaries (glomeruli) in the kidney. The irises of the eye may have more than one color present. The eyes may also have cataracts and astigmatism
Nail-patella syndrome is a rare genetic disease. The genetic mutation is an autosomal dominant mutation. This means that possession of only one copy of the defective gene is enough to cause disease. The defect has been mapped to chromosome 9 and may be related to the gene that codes for type 5 collagen. Some patients with this disease show no symptoms and are discovered to have the disease only when genetic studies trace family histories. The fingernails of these patients are usually poorly developed or missing. The index fingers and thumb are most commonly affected by this disease. Fingernails that are present may be small and concave and have pitting, ridges, splits, and discoloration. Effects are rarely seen on the toes. Either or both kneecaps may be missing. Abnormally formed kneecaps can take a variety of shapes. Since the kneecap stabilizes the knee, patients may have difficulty walking. The iliac crest of the hip bone usually has a pronounced flaring called iliac horns. Kidney disease may be present. Biopsy shows lesions that resemble those of inflammation of the clusters of capillaries in the kidneys (

83. Nail – Patella Syndrome
nail – patella syndrome,. Print this article, an autosomal dominant disorder, also nail – patella syndrome, Fig. 1. AP (a) and oblique
http://www.amershamhealth.com/medcyclopaedia/Volume III 1/NAIL PATELLA SYNDROME
Amershamhealth.com Search for: Type a word or a phrase. All forms of the word are searchable. Browse entry words starting with: A B C D ... Other characters Nail – patella syndrome, an autosomal dominant disorder, also referred to as osteo-onychodysostosis, hereditary osteo-onychodysplasia (HOOD), or Fong's syndrome. In this disorder patients have dysplastic fingernails, hypoplastic or absent patellae, other bone deformities, iliac horns ( Fig.1 ), widespread soft tissue changes and renal dysplasia, sometimes leading to renal osteodystrophy and death. In the knee, asymmetric development of the femoral condyles and a sloping tibial plateau can be observed. The elbow may also reveal asymmetric development of the humeral condyles, hypoplasia of the capitulum, and subluxation or dislocation of the radial head ( Fig.2 ). The bilateral outgrowths from the posterior ilium ( iliac horns ) are virtually pathognomonic of nail-patella syndrome. Other bone changes can be evident in the shoulder, wrist, ankle and subtalar joints.
DR/RB
The Encyclopaedia of Medical Imaging Volume III:1 Nail – patella syndrome, Fig. 1

84. GeneReviews: Nail-Patella Syndrome
Your browser does not support HTML frames so you must view nailpatella syndrome in a slightly less readable form. Please follow this link to do so.
http://www.geneclinics.org/profiles/nail-ps/
Your browser does not support HTML frames so you must view Nail-Patella Syndrome in a slightly less readable form. Please follow this link to do so.

85. Nail-patella Syndrome - Medical Dictionary Definitions Of Popular Medical Terms
MedicineNet Home MedTerms medical dictionary AZ List nailpatella syndrome. nail-patella syndrome (NPS) is inherited as an autosomal dominant trait.
http://www.medterms.com/script/main/art.asp?articlekey=4500

86. Nail-patella Syndrome
nailpatella syndrome. nail-patella It is estimated to occur in one in 50,000 newborns. Information about nail-patella syndrome. nail-patella
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Nail-Patella Syndrome
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.
Information about Nail-Patella Syndrome
Nail-patella syndrome (NPS) is a rare genetic disorder that is usually apparent at birth or during early childhood. Although the symptoms and physical characteristics associated with NPS may vary, characteristic abnormalities tend to include improper development (dysplasia) of the fingernails and toenails; absence (aplasia) and/or underdevelopment (hypoplasia) of the knee caps (patellae); underdevelopment of certain bones and/or webbing of skin at the bend of the elbow(s); and/or abnormal projections of bone from the upper (superior) portion of both sides of the hipbone (bilateral iliac horns). In addition, some individuals within certain families (kindreds) may have abnormally increased fluid pressure of the eyes (glaucoma). The condition results due to progressive blockage of the outflow of fluid (aqueous humor) from the front chamber of the eyes (open-angle glaucoma). Without appropriate treatment, the gradual increase in fluid pressure may cause increased narrowing of visual fields and eventual blindness. Other eye (ocular) abnormalities may also be associated with NPS. For example, in some affected individuals, the inner margin (pupillary margin) of the colored portion of the eyes (irides) may appear abnormally dark (hyperpigmentation) and "cloverleaf shaped" (Lester iris).

87. ORPHANET - Maladies Rares - Médicaments Orphelins
Translate this page Version pour Impression, MALADIE nail-patella syndrome, Synonyme(s) Onycho-ostéo-dysplasie Turner-Kieser, syndrome de, CIM Q87.22,
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=2614

88. Nail-Patella Syndrome Gene  Discovered
713798-4712 pa@bcm.tmc.edu. nail-patella syndrome Gene Discovered. Mutations in a gene called LMX1B can cause nail-patella syndrome.
http://www.bcm.tmc.edu/pa/nail-patella.htm

pa@bcm.tmc.edu
Nail-Patella Syndrome Gene Discovered HOUSTON(April 27, 1998)The gene responsible for a rare condition that causes abnormal fingernails and prevents the development of kneecaps has been identified. It is the first gene of its type to be linked to an abnormal genetic condition. Researchers at Baylor College of Medicine and M.D. Anderson Cancer Center in Houston report these discoveries in two articles in the May issue of the scientific journal Nature Genetics. One article describes the genetic defect in humans, and the other describes the same defect in a mouse model. Mutations in a gene called LMX1B can cause nail-patella syndrome. People with this rare condition develop abnormal fingernails and toenails. They also have joint and bone abnormalities, including an absence of patellae or kneecaps, and might also develop glaucoma and kidney failure. "Now that we have found a gene that affects the development of nail, skeletal, kidney and eye tissue, researchers might look for similar genes that control development of these types of tissue," said principal investigator Dr. Brendan Lee, Baylor assistant professor of molecular and human genetics.

89. Nail-Patella Syndrome,Fong Disease,Onychoosteodysplasia,NPS,Turner-Kieser Syndro
nailpatella syndrome,Fong Disease,Onychoosteodysplasia,NPS,Turner-Kieser syndrome,Hereditary Onychoosteodysplasia,HOOD,nail-patella syndrome,Fong Disease
http://www.icomm.ca/geneinfo/nailpatella.htm
Nail-Patella Syndrome,Fong Disease,Onychoosteodysplasia,NPS,Turner-Kieser Syndrome,Hereditary Onychoosteodysplasia,HOOD,Nail-Patella Syndrome,Fong Disease,Onychoosteodysplasia,NPS,Turner-Kieser Syndrome,Hereditary Onychoosteodysplasia,HOOD
For Information on Workshops and Seminars for Special Needs Children click here The GAPS INDEX
to Information on the Internet about Genetic Disorders and Birth Defects

Genetic Information and Patient Services, Inc. (GAPS)
HOME
DISORDERS GLOSSARY Nail-Patella Syndrome
also known as:
Fong Disease
Onychoosteodysplasia
NPS
Turner-Kieser Syndrome
Hereditary Onychoosteodysplasia (HOOD) (as defined by the National Organization for Rare Disorders
PRELIMINARY DRAFT This preliminary draft has not been approved by our medical advisors; therefore, its accuracy cannot be guaranteed. Verification of medical accuracy is pending. This is the most current information that NORD has available at this time. Nail-patella syndrome (NPS) is a rare genetic disorder that is usually apparent at birth or during early childhood. Although the symptoms and physical characteristics associated with NPS may vary, characteristic abnormalities tend to include improper development (dysplasia) of the fingernails and toenails; absence (aplasia) and/or underdevelopment (hypoplasia) of the knee caps (patellae); underdevelopment of certain bones and/or webbing of skin at the bend of the elbow(s); and/or abnormal projections of bone from the upper (superior) portion of both sides of the hipbone (bilateral iliac horns).

90. NAIL-PATELLA SYNDROME (OSTEO-ONYCHODYSPLASIA)
Features Listed For nailpatella syndrome (OSTEO-ONYCHODYSPLASIA). McKusick 161200. Absent or hypoplastic femur; Absent or hypoplastic
http://www.hgmp.mrc.ac.uk/dhmhd-bin/hum-look-up?1197

91. Nail-patella Syndrome - General Practice Notebook
nailpatella syndrome. This is congenital nail disorder with an autosomal dominant inheritance in which the patellae and some of
http://www.gpnotebook.co.uk/cache/-1389035487.htm
nail-patella syndrome This is congenital nail disorder with an autosomal dominant inheritance in which the patellae and some of the nails, usually those of the thumb, are rudimentary or absent. The iliac spines may also be underdeveloped.
Click here for more information...

92. Nail-patella Syndrome - General Practice Notebook
nailpatella syndrome. Medical search. This is congenital nail disorder with an autosomal dominant inheritance in which the patellae
http://www.gpnotebook.co.uk/medwebpage.cfm?ID=-1389035487

93. Entrez PubMed
Cosegregation of openangle glaucoma and the nail-patella syndrome. In both families, all individuals with glaucoma also had nail-patella syndrome.
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Abstra

94. Entrez PubMed
Goodpasture s syndrome in a patient with the nailpatella syndrome. nail-patella syndrome/immunology. Substances Antibodies. PMID 961703 PubMed
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Abstra

95. Nail-Patella Syndrome In Saudi Arabia
This study reveals the occurrence of nailpatella syndrome in Saudi Arabia together with the detection of abnormal attachment of lateral meniscus in the left
http://www.medscape.com/viewarticle/472317

96. Gimenei >> Health >> Conditions_and_Diseases >> Genetic_Disorders >> Nail_Patell
patella Femoral syndrome FootSmart Company supplies knee supports and knee braces designed to relieve knee pain. Products include
http://www.gimenei.com/directory/top/Health/Conditions_and_Diseases/Genetic_Diso
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97. ’Ü•GŠWœÇŒóŒQi‚m‚‚‰‚Œ|‚o‚‚”‚…‚Œ‚Œ‚ ‚r‚
The summary for this Japanese page contains characters that cannot be correctly displayed in this language/character set.
http://member.nifty.ne.jp/NPS/top.htm
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98. Ooh! The NPS Page Has Moved!
Has moved permanently to. http//www.house9design.com/nps. You should get there in about 5 seconds.
http://www.reck-bates.demon.co.uk/nps/nps.html
Has moved permanently to http://www.house9design.com/nps You should get there in about 5 seconds.

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