61. NAIL-PATELLA SYNDROME CONFERENCE Suggestions regarding musculoskeletal and biomechanical issues for theNailpatella syndrome individual. (Revised July 2002). I. Introduction. http://www.geocities.com/nailpatella_syndrome_worldwide/workout.html

Suggestions regarding musculoskeletal and biomechanical issues for the Nail-Patella Syndrome individual (Revised July 2002) I. Introduction A. Each participant must first seek the advice of their physician before starting any kind of exercise regime where a thorough evaluation can be performed to determine what is appropriate for them. Attendance of the presentation does not qualify the participant in any way to perform any of the suggested information without physician approval and proper supervision. B. Purpose-To provide individuals with a comprehensive fitness program. The individual, along with supervision of their health care provider, can select what is most appropriate for them. Some activities may not appropriate and therefore should not be done. C. Intent-To provide the individual with the basic knowledge and components that make up a fitness program. D. Recommendation-Due to the extreme variability in NPS characteristics, it is highly recommended that individuals have a MRI or scan done to determine the configuration of their joints before engaging in any exercise program. It has been found that muscles/tendons, ligaments and even bony parts are often missing or misplaced.

62. EMedicine - Nail-Patella Syndrome : Article By Anna Choczaj-Kukula MD, PhD nailpatella syndrome - nail-patella syndrome (NPS), also known as hereditary osteo-onychodysplasia(HOOD), is an uncommon genetically determined disease that http://www.emedicine.com/derm/topic813.htm

(advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Dermatology Nails Nail-Patella Syndrome Last Updated: May 17, 2002 Rate this Article Email to a Colleague Synonyms and related keywords: NPS, hereditary osteo-onychodysplasia, HOOD, Fong syndrome, Osterreicher-Turner syndrome, fingernail dysplasia, absent patellae, hypoplastic patellae, posterior conical iliac horns, radial head deformation, radial head luxation, Goodpasture disease, congenital permanent dislocation of the patella, CPDP AUTHOR INFORMATION Section 1 of 9 Author Information Introduction Clinical Differentials ... Bibliography Author: Anna Choczaj-Kukula MD, PhD , Lecturer, Department of Dermatology, Medical University of Lodz, Poland Coauthor(s): Camila K Janniger, MD , Chief of Pediatric and Geriatric Dermatology, Clinical Associate Professor, Dermatology and Pediatrics, UMDNJ-New Jersey Medical School Editor(s): C Lisa Kauffman, MD

63. EMedicine - Nail-Patella Syndrome : Article By Suzanne M Carter, MS nailpatella syndrome - nail-patella syndrome (NPS) is a well known autosomal dominantcondition (OMIM 161200) characterized by nail dysplasia, patellar aplasia http://www.emedicine.com/ped/topic1546.htm

(advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Pediatrics Genetics And Metabolic Disease Nail-Patella Syndrome Last Updated: April 22, 2002 Rate this Article Email to a Colleague Synonyms and related keywords: NPS, Fong disease, NPS 1, onycho-osteodysplasia, Turner-Kieser syndrome, arthro-onychodysplasia AUTHOR INFORMATION Section 1 of 10 Author Information Introduction Clinical Differentials ... Bibliography Author: Suzanne M Carter, MS , Senior Genetic Counselor, Associate, Department of Obstetrics and Gynecology, Division of Reproductive Genetics, Montefiore Medical Center, Albert Einstein College of Medicine Coauthor(s): Susan J Gross, MD, FRCS(C), FACOG, FACMG , Codirector, Division of Reproduction Genetics, Associate Professor, Department of Obstetrics and Gynecology, Albert Einstein College of Medicine Suzanne M Carter, MS, is a member of the following medical societies: American College of Medical Genetics Editor(s): Christian J Renner, MD

64. Nail-Patella Syndrome | Principal Health News nailpatella syndrome. nail-patella syndrome, is a genetic disease of the connectivetissue that produces defects in the fingernails, knee caps, and kidneys. http://www.principalhealthnews.com/topic/topic100587197

About This Site Registration FAQ Contact Us ... Site Awards You are here: Home Health A to Z Nail-Patella Syndrome Nail-Patella Syndrome Lohr, John Thomas Below: Definition Description Causes and symptoms Diagnosis ... Resources Definition Nail-patella syndrome, is a genetic disease of the connective tissue that produces defects in the fingernails, knee caps, and kidneys. Description Nail-patella syndrome is also known as Fong Disease, Hereditary Onycho-Osteodysplasia (H.O.O.D.), Iliac Horn Disease, and Turner-Kieser syndrome. Patients who have nail-patella syndrome may show a variety of physical defects. The hallmark features of this syndrome are poorly developed fingernails, toenails, and patellae (kneecaps). Other common abnormalities include elbow deformities, abnormally shaped pelvis bone (hip bone), and kidney (renal) disease. Less common medical findings include defects of the upper lip, the roof of the mouth, and unusual skeletal abnormalities. Skeletal abnormalities may include poorly developed scapulae (shoulder blades), sideways bent fingers (clinodactyly), clubfoot, scoliosis, and unusual neck bones. 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. Scientists have recognized an association between nail-patella syndrome and colon cancer. Nail-patella syndrome is associated with open-angle glaucoma, which, if untreated, may lead to blindness. Patients may also have cataracts, drooping eyelids (ptosis), or corneal problems such as glaucoma.

65. Nail-Patella Syndrome (Fong Disease) HOME nailpatella syndrome (Fong Disease, Onychoosteodysplasia, TurnerKieser syndrome). nail-patella; nail-patella syndrome; nail-patella http://www.bdid.com/nps.htm

HOME Nail-Patella Syndrome (Fong Disease, Onychoosteodysplasia, Turner Kieser Syndrome) nail-patella NAIL-PATELLA SYNDROME nail-patella syndrome Hirschsprung-like aganglionosis of the colon in patients with nail patella ... HOME

66. Nail-Patella Syndrome Gene  Discovered 713798-4712 pa@bcm.tmc.edu. nail-patella syndrome Gene Discovered. Mutationsin a gene called LMX1B can cause nail-patella syndrome. http://public.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.

67. Nail-patella Syndrome nailpatella syndrome. nail-patella syndrome, is a genetic disease of the connectivetissue that produces defects in the fingernails, knee caps, and kidneys. http://www.hendrickhealth.org/healthy/000947.htm

MAIN SEARCH INDEX Nail-patella syndrome Definition Description Causes and symptoms Diagnosis ... Resources Definition Nail-patella syndrome, is a genetic disease of the connective tissue that produces defects in the fingernails, knee caps, and kidneys. Description Nail-patella syndrome is also known as Fong Disease, Hereditary Onycho-Osteodysplasia (H.O.O.D.), Iliac Horn Disease, and Turner-Kieser syndrome. Patients who have nail-patella syndrome may show a variety of physical defects. The hallmark features of this syndrome are poorly developed fingernails, toenails, and patellae (kneecaps). Other common abnormalities include elbow deformities, abnormally shaped pelvis bone (hip bone), and kidney (renal) disease. Less common medical findings include defects of the upper lip, the roof of the mouth, and unusual skeletal abnormalities. Skeletal abnormalities may include poorly developed scapulae (shoulder blades), sideways bent fingers (clinodactyly), clubfoot scoliosis , and unusual neck bones. 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. Scientists have recognized an association between nail-patella syndrome and colon cancer . Nail-patella syndrome is associated with open-angle glaucoma , which, if untreated, may lead to blindness. Patients may also have

68. Nail-Patella Syndrome | Ahealthyme.com You are here Home Health A to Z nailpatella syndrome. nail-patellasyndrome. nail-patella syndrome Lohr, John Thomas. http://www.ahealthyme.com/topic/topic100587197

Search AHealthyMe! Personalize AHealthyMe! Sign up for our Newsletter! You are here: Home Health A to Z Nail-Patella Syndrome Lohr, John Thomas Below: Definition Description Causes and symptoms Diagnosis ... Resources Definition Nail-patella syndrome, is a genetic disease of the connective tissue that produces defects in the fingernails, knee caps, and kidneys. Description Nail-patella syndrome is also known as Fong Disease, Hereditary Onycho-Osteodysplasia (H.O.O.D.), Iliac Horn Disease, and Turner-Kieser syndrome. Patients who have nail-patella syndrome may show a variety of physical defects. The hallmark features of this syndrome are poorly developed fingernails, toenails, and patellae (kneecaps). Other common abnormalities include elbow deformities, abnormally shaped pelvis bone (hip bone), and kidney (renal) disease. Less common medical findings include defects of the upper lip, the roof of the mouth, and unusual skeletal abnormalities. Skeletal abnormalities may include poorly developed scapulae (shoulder blades), sideways bent fingers (clinodactyly), clubfoot, scoliosis, and unusual neck bones. 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. Scientists have recognized an association between nail-patella syndrome and colon cancer. Nail-patella syndrome is associated with open-angle glaucoma, which, if untreated, may lead to blindness. Patients may also have cataracts, drooping eyelids (ptosis), or corneal problems such as glaucoma.

69. Nail-Patella Syndrome | Building Better Health You are here Home Health A to Z nailpatella syndrome Health Topics AZ nail-patellasyndrome. nail-patella syndrome is associated with open angle glaucoma. http://www.buildingbetterhealth.com/topic/topic100587197

Medical Library Cool Tools Women's Health Men's Health ... Drug Dictionary You are here: Home Health A to Z Health Topics A-Z Nail-Patella Syndrome Lohr, John Thomas Below: Definition Description Causes and symptoms Diagnosis ... Resources Definition Nail-patella syndrome, is a genetic disease of the connective tissue that produces defects in the fingernails, knee caps, and kidneys. Description Nail-patella syndrome is also known as Fong Disease, Hereditary Onycho-Osteodysplasia (H.O.O.D.), Iliac Horn Disease, and Turner-Kieser syndrome. Patients who have nail-patella syndrome may show a variety of physical defects. The hallmark features of this syndrome are poorly developed fingernails, toenails, and patellae (kneecaps). Other common abnormalities include elbow deformities, abnormally shaped pelvis bone (hip bone), and kidney (renal) disease. Less common medical findings include defects of the upper lip, the roof of the mouth, and unusual skeletal abnormalities. Skeletal abnormalities may include poorly developed scapulae (shoulder blades), sideways bent fingers (clinodactyly), clubfoot, scoliosis, and unusual neck bones. 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. Scientists have recognized an association between nail-patella syndrome and colon cancer. Nail-patella syndrome is associated with open-angle glaucoma, which, if untreated, may lead to blindness. Patients may also have cataracts, drooping eyelids (ptosis), or corneal problems such as glaucoma.

70. Nail – Patella Syndrome nail – patella syndrome,, Print this article, an autosomal dominantdisorder, also nail – patella syndrome, Fig. 1 AP (a) and oblique http://www.amershamhealth.com/medcyclopaedia/Volume III 1/nail patella syndrome

Medcyclopaedia About Medcyclopaedia Amersham Health Search for: Type a word or a phrase. All forms of the word are searchable. Advanced search Browse entry words starting with: A B C D ... Other characters Try our Medcyclopaedia Premium Edition with added tools and functionality tailored to make your working day easier. The following tools are presently available: Expanded search *For Medical Professionals only, registration required 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

71. Nail–patella Syndrome only. nail–patella syndrome,, Print this article, HC The Encyclopaediaof Medical Imaging Volume VII. nail–patella syndrome, Fig. 1 http://www.amershamhealth.com/medcyclopaedia/Volume VII/NAILPATELLA SYNDROME.asp

Medcyclopaedia About Medcyclopaedia Amersham Health Search for: Type a word or a phrase. All forms of the word are searchable. Advanced search Browse entry words starting with: A B C D ... Other characters Try our Medcyclopaedia Premium Edition with added tools and functionality tailored to make your working day easier. The following tools are presently available: Expanded search *For Medical Professionals only, registration required Nail–patella syndrome, (also known as Fong's syndrome), the association of nail dysplasia, hypoplasia or absence of the patellae and iliac horns. There is variable expression. The condition is autosomal dominant. Radiologically, there is hypoplasia or absence of the patellae, often with disproportionate enlargement of the medial femoral condyle ( Fig.1 ). Iliac horns are seen arising from the outer surface of the iliac wings ( Fig.2 HC The Encyclopaedia of Medical Imaging Volume VII Nail–patella syndrome, Fig. 1 Lateral radiograph of both knees of a teenager, showing small hypoplastic patellae, typical of this condition. Nail–patella syndrome, Fig. 2

72. Nail-Patella Syndrome | AHealthyAdvantage You are here Home Health A to Z nailpatella syndrome. nail-patella syndrome. Theincidence of nail-patella syndrome is approximately one in 50,000 births. http://www.ahealthyadvantage.com/topic/topic100587197

Site Search Ills and Conditions Women's Health Men's Health Senior Health ... Self-Care Centers Go To Premera Home Provider Directory Preferred Drug List Cool Tools ... Health A-Z You are here: Home Health A to Z Nail-Patella Syndrome Nail-Patella Syndrome Lohr, John Thomas Below: Definition Description Causes and symptoms Diagnosis ... Resources Definition Nail-patella syndrome, is a genetic disease of the connective tissue that produces defects in the fingernails, knee caps, and kidneys. Description Nail-patella syndrome is also known as Fong Disease, Hereditary Onycho-Osteodysplasia (H.O.O.D.), Iliac Horn Disease, and Turner-Kieser syndrome. Patients who have nail-patella syndrome may show a variety of physical defects. The hallmark features of this syndrome are poorly developed fingernails, toenails, and patellae (kneecaps). Other common abnormalities include elbow deformities, abnormally shaped pelvis bone (hip bone), and kidney (renal) disease. Less common medical findings include defects of the upper lip, the roof of the mouth, and unusual skeletal abnormalities. Skeletal abnormalities may include poorly developed scapulae (shoulder blades), sideways bent fingers (clinodactyly), clubfoot, scoliosis, and unusual neck bones. 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. Scientists have recognized an association between nail-patella syndrome and colon cancer. Nail-patella syndrome is associated with open-angle glaucoma, which, if untreated, may lead to blindness. Patients may also have cataracts, drooping eyelids (ptosis), or corneal problems such as glaucoma.

73. Nail-Patella Syndrome Networking/Support Group Return to Search Page nailpatella syndrome Networking/Support Group. 67 WoodlakeDr Holland, PA 18966. Conditions nail-patella syndrome. Year Established 1997 http://www.geneticalliance.org/diseaseinfo/displayorganization.html?orgname=Nail

74. Nail-patella Syndrome: Ostéo-onychodysplasie Héréditaire http://www.cuen.org/seminairemai2000/gubert/tsld012.htm

Nail-patella syndrome: ostéo-onychodysplasie héréditaire Syndrome dysmorphique Atteinte unguéale, constante Hypoplasie ou absence de rotule (95%) Dysplasie du coude (94%) Présence de cornes iliaques (70%) Atteinte rénale Néphropathie glomérulaire (40-50%) Evoluant vers l ’IRT (30%) Anomalies des MBG Epaississements irréguliers ME : Présence de collagène fibrillaire IHC : Présence de collagène de type III Génétique Transmission dominante autosomique Localisation du gène en 9q34 Identification du gène muté : LMX1B H.Chen et al, Nature Genet 1998, 19: 51-55 Diapositive précédente Diapositive suivante Revenir à la première diapositive Afficher la version graphique

75. Nail-patella Syndrome: Ostéo-onychodysplasie Héréditaire Translate this page Premier Précédent Suivant Dernier IndexDémarrage Texte. Diapositive 12 sur 14. http://www.cuen.org/seminairemai2000/gubert/sld012.htm

Diapositive 12 sur 14

76. Nail-Patella Syndrome | AHealthyAdvantage You are here Home Health A to Z nailpatella syndrome. nail-patella syndrome. Causes symptoms nail-patella syndrome is a rare genetic disease. http://lifewise.ahealthyadvantage.com/topic/topic100587197

You are here: Home Health A to Z Nail-Patella Syndrome Nail-Patella Syndrome Lohr, John Thomas Below: Definition Description Causes and symptoms Diagnosis ... Resources Definition Nail-patella syndrome, is a genetic disease of the connective tissue that produces defects in the fingernails, knee caps, and kidneys. Description Nail-patella syndrome is also known as Fong Disease, Hereditary Onycho-Osteodysplasia (H.O.O.D.), Iliac Horn Disease, and Turner-Kieser syndrome. Patients who have nail-patella syndrome may show a variety of physical defects. The hallmark features of this syndrome are poorly developed fingernails, toenails, and patellae (kneecaps). Other common abnormalities include elbow deformities, abnormally shaped pelvis bone (hip bone), and kidney (renal) disease. Less common medical findings include defects of the upper lip, the roof of the mouth, and unusual skeletal abnormalities. Skeletal abnormalities may include poorly developed scapulae (shoulder blades), sideways bent fingers (clinodactyly), clubfoot, scoliosis, and unusual neck bones. 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. Scientists have recognized an association between nail-patella syndrome and colon cancer. Nail-patella syndrome is associated with open-angle glaucoma, which, if untreated, may lead to blindness. Patients may also have cataracts, drooping eyelids (ptosis), or corneal problems such as glaucoma. People with nail-patella syndrome may display only a few or many of the recognized signs of this disease. Symptoms vary widely from person to person. Signs even vary within a single family with multiple affected members.

77. Nail-Patella Syndrome | Vhihealthe Patients who have nail-patellasyndrome show a variety of physical defects. Among these......nailpatella syndrome. kidneys. http://www2.vhihealthe.com/topic/topic100587197

You are here: Home Health A to Z Nail-Patella Syndrome Lohr, John Thomas Below: Definition Description Causes and symptoms Diagnosis ... Resources Definition Nail-patella syndrome, is a genetic disease of the connective tissue that produces defects in the fingernails, knee caps, and kidneys. Description Nail-patella syndrome is also known as Fong Disease, Hereditary Onycho-Osteodysplasia (H.O.O.D.), Iliac Horn Disease, and Turner-Kieser syndrome. Patients who have nail-patella syndrome may show a variety of physical defects. The hallmark features of this syndrome are poorly developed fingernails, toenails, and patellae (kneecaps). Other common abnormalities include elbow deformities, abnormally shaped pelvis bone (hip bone), and kidney (renal) disease. Less common medical findings include defects of the upper lip, the roof of the mouth, and unusual skeletal abnormalities. Skeletal abnormalities may include poorly developed scapulae (shoulder blades), sideways bent fingers (clinodactyly), clubfoot, scoliosis, and unusual neck bones. 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. Scientists have recognized an association between nail-patella syndrome and colon cancer. Nail-patella syndrome is associated with open-angle glaucoma, which, if untreated, may lead to blindness. Patients may also have cataracts, drooping eyelids (ptosis), or corneal problems such as glaucoma. People with nail-patella syndrome may display only a few or many of the recognized signs of this disease. Symptoms vary widely from person to person. Signs even vary within a single family with multiple affected members.

78. A Link Between Glaucoma And Nail-patella Syndrome Found Arbor, Michigan 481091399. January 27, 1998 (23). A link between glaucomaand nail-patella syndrome found. ANN ARBOR-Researchers at http://www.umich.edu/news/Releases/1998/Jan98/r012798b.html

The University of Michigan News and Information Services News Release 412 Maynard Ann Arbor, Michigan January 27, 1998 (23) A link between glaucoma and nail-patella syndrome found ANN ARBOR-Researchers at the University of Michigan Health System have found strong evidence of a link between glaucoma and a rare genetic disorder that causes abnormalities of bone, joints, fingernails and kidneys. The disorder, called nail-patella syndrome or NPS, is commonly characterized by absent or under-developed kneecaps and thumbnails. It is estimated to occur in one in 50,000 newborns. The U-M 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 Health System's Department of Ophthalmology and director of the W.K. Kellogg Eye Center

79. ORPHANET® : Nail-patella Syndrome Translate this page ORPHANET. ORPHANET database access. nail-patella syndrome. Direct accessto details Alias Onychoosteodysplasia,Turner kieser syndrome. Home Page. http://www.orpha.net/static/GB/nail_patella.html

ORPHANET database access Nail-patella syndrome Direct access to details Alias : Home Page

80. NAIL-PATELLA SYNDROME (OSTEO-ONYCHODYSPLASIA) Features Listed For nailpatella syndrome (OSTEO-ONYCHODYSPLASIA). McKusick161200. Absent or hypoplastic femur; Absent or hypoplastic http://www.hgmp.mrc.ac.uk/dhmhd-bin/hum-look-up?1197

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