1. Lowe Syndrome Association Home Page Information about this disease and the international organization that deals with it.Category Health Conditions and Diseases lowe syndrome......lowe syndrome Association Home Page. Home Page. What is the lowe syndrome Association?In 1983 a handful of parents founded the lowe syndrome Association (LSA). http://www.lowesyndrome.org/

Home Page LSA Information About the LSA News Donations Membership ... LSA-Talk Lowe Syndrome What is Lowe Syndrome? FAQ Diagnosis Testing Labs ... Living with LS Booklet Conferences 2004 Plans Past Conferences Research Research Fund Current RFP Grants International French LSA UK Trust Australia Links Welcome to the LSA Lowe Syndrome (LS) is a rare genetic condition that causes physical and mental handicaps, and medical problems. Also called the oculo-cerebro-renal (OCRL) syndrome, it was first described in 1951 by Dr. Charles Lowe and colleagues. What is the Lowe Syndrome Association? In 1983 a handful of parents founded the Lowe Syndrome Association (LSA). The LSA is an international, voluntary, non-profit organization made up of parents, friends, professionals, and others who are interested in Lowe syndrome, a rare genetic condition that affects boys. The primary purposes of the LSA are: to foster communication among families

2. 600 Mile Walk Information about the walk as well as the disease. Details about the different ways one can support the cause. http://www.600milewalk.org

Quick Navigation Home Lowe Syndrome History Useful Links Proximal Renal Tubular Acidosis FAQ Online Sources Contact Us NAVIGATION Home Lowe Syndrome History Useful Links ... Contact Us Home Lowe Syndrome is a rare genetic condition that causes physical and mental handicaps, and medical problems. We offer information, and give very useful links to find some of the best support groups. To learn more about Lowe Syndrome , please read through this site and explore all the details. Useful Links: Lowe Syndrome Association Pediatric Database Cool Sites

3. UK Lowe Syndrome Trust The lowe syndrome Trust is a UK Charity formed in June 2000 as an affiliate of the USA lowe syndrome Association (LSA). http://www.lowetrust.com/

registered charity no 1081241 Home Donations Research Grants About the LST ... Contact Welcome to the UK Lowe Sydrome Trust website 2003 Call for Research Proposals application form (MS Word format) Celebrity Golf at Wentworth Golf Club 1st July 2003 with Rory Bremner. See the invitation forms. Last Event: Halloween Party starring Tony Hadley and the FABBA Girls at Madame Tussaudes London. UK Gift Aid Declaration tax form. Donate online using CAF charity card Lowe Syndrome is a genetic disease that can occur with no family history, affecting boys with multiple physical and mental handicaps including cataracts, muscle weakness (hypotomia - floppy baby syndrome), kidney problems, arthritis, poor growth, mental impairment (autistic spectrum disorder) and epilepsy. The Lowe Syndrome Trust is a UK Charity formed in June 2000 as an affiliate of the USA Lowe Syndrome Association (LSA). As most children's charities exclude funding medical research, the primary aim of the Trust is to encourage medical research into Lowe Syndrome and provide UK support by raising funds for research into Lowe Syndrome in the UK, and internationally through the LSA and worldwide affiliates.

4. Pediatric Database An in depth look at lowe syndrome starting with a definition, epidemiology, pathogenesis, clinical features, investigations and management. http://www.icondata.com/health/pedbase/files/LOWE(OCU.HTM

Pediatric Database (PEDBASE) Discipline: GEN Last Updated: 6/15/94 LOWE (OCULO-CEREBRO-RENAL) SYNDROME DEFINITION: An x-linked recessive disorder of unknown etiology resulting in an ocular, cerebral, and renal syndrome. EPIDEMIOLOGY: incidence: rare (about 50 cases worldwide) age of onset: newborn (hypotonia, cataracts) risk factors: familial - x-linked recessive chrom.#: Xq26.1 gene: ? PATHOGENESIS: 1. Background Lowe Syndrome first described in 1952 2. Genetic Defect prenatal phenotypic expression as infants born with hypotonia and cataracts three distinct phases of syndrome: 1. Infancy neurologic and ophthalmologic manifestations predominant with renal tubular dysfunction presenting within the first year of life 2. Childhood 3. Late Childhood death from inanition, pneumonia, chronic renal failure CLINICAL FEATURES: 1. Ophthalmologic Manifestations superficial granulations with corneal scarring bilateral congenital cataracts (100%) glaucoma +/- buphthalmos miotic pupils enophthalmos 2. Neurological Manifestations infantile hypotonia gross motor developmental delay reduced or absent deep tendon reflexes muscle wasting moderate to severe mental retardation speech/language/communication disabilities 3. Renal Manifestations

5. Lowe Syndrome Association lowe syndrome Association Home Page. Home Page What is lowe syndrome? Whatis lowe syndrome? lowe syndrome (LS) is a rare genetic http://www.lowesyndrome.org/ls/lsWhatIs.html

Home Page What is Lowe Syndrome? LSA Information About the LSA News Donations Membership ... LSA-Talk Lowe Syndrome What is Lowe Syndrome? FAQ Diagnosis Testing Labs ... Living with LS Booklet Conferences 2004 Plans Past Conferences Research Research Fund Current RFP Grants International French LSA UK Trust Australia Links What is Lowe Syndrome? Lowe Syndrome (LS) is a rare genetic condition that causes physical and mental handicaps, and medical problems. It was first described in 1952 by Drs. Lowe, Terrey, and MacLachlan at the Massachusetts General Hospital in Boston. The condition became known as "Lowe syndrome" named after Dr. Charles Lowe, the senior member of the group that described it. Because of the three major organ systems involved (eyes, brain, and kidney), it is also known as OCRL (oculo-cerebro-renal) syndrome. Boys with Lowe Syndrome are born with cataracts in both eyes, which are usually removed at a few months of age. Most boys are fitted with glasses, contacts, or a combination of the two. Glaucoma is present in about 50% of the boys with Lowe syndrome, though usually not at birth. Prescription eye drop and/or surgery is required to maintain appropriate eye pressure in these cases.

6. Lowe Syndrome (LS) lowe syndrome, the synonyms, a summary and list of major features. http://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome401.html

Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes View the Full Record Syndrome Lowe syndrome (LS) Synonyms Lowe-Terrey-MacLachlan syndrome oculocerebrorenal (OCR, OCRL) syndrome Summary A syndrome of congenital cataracts, hydrophthalmia, delayed growth and mental development, vitamin D-resistant rickets, aminoaciduria, and reduced production of ammonia by the kidneys. Additional manifestations include areflexia, hypotonia, glaucoma, corneal keloid, and noninflammatory arthropathy. Major Features Eyes: Cataracts, hydrophthalmia, corneal opacity, glaucoma, corneal keloid, and nystagmus. Thorax: Pectus excavatum. Muscles: Hypotonia and hypoplasia. Bones and joints: Vitamin D resistant rickets, joint hypermobility, noninflammatory arthropathy, osteoporosis, and fractures. Nervous system: Intention tremor, seizures, and diminished deep tendon reflexes. Urogenital system: Renal tubular dysfunction, underdeveloped glomeruli, and progressive renal failure. Cryptorchidism is the main genital abnormality. Biochemical and metabolic features: Hyperchloremic acidosis, acid urine, reduced ammonia production, proteinuria, aminoaciduria, phosphaturia, carnitine wasting, and elevated creatine kinase, aspartate aminotransferase, lactate dehydrogenase, total serum proteins, alpha-2-globulin, and high density lipoprotein.

7. 600 Mile Walk lowe syndrome lowe syndrome (LS) is a rare genetic condition thatcauses physical and mental handicaps, and medical problems. It http://www.600milewalk.org/about.html

Quick Navigation Home Lowe Syndrome History Useful Links Proximal Renal Tubular Acidosis FAQ Online Sources Contact Us NAVIGATION Home Lowe Syndrome History Useful Links ... Contact Us Lowe Syndrome Lowe Syndrome (LS) is a rare genetic condition that causes physical and mental handicaps, and medical problems. It was first described in 1952 by Drs. Lowe, Terrey, and MacLachlan at the Massachusetts General Hospital in Boston. The condition became known as "Lowe syndrome" named after Dr. Charles Lowe, the senior member of the group that described it. Because of the three major organ systems involved (eyes, brain, and kidney), it is also known as OCRL (oculo-cerebro-renal) syndrome. Lowe Syndrome boys are born with cataracts, poor muscle tone, kidney problems, have poor growth and mental retardation. Other conditions may develop such as glucoma, arthritus, siezures and behaviour problems. Boys with Lowe Syndrome are born with cataracts in both eyes, which are usually removed at a few months of age. Most boys are fitted with glasses, contacts, or a combination of the two. Glaucoma is present in about 50% of the boys with Lowe syndrome, though usually not at birth. Prescription eye drop and/or surgery is required to maintain appropriate eye pressure in these cases. While not present at birth, many Lowe Syndrome boys develop kidney problems at approximately one year of age. This is characterized by the abnormal loss of certain substances into the urine, including bicarbonate, sodium, potassium, amino acids, organic acids, albumin and other small proteins, calcium, phosphate, glucose, and L-carnitine. This problem is known as Fanconi-type renal tubular dysfunction and can also be seen in certain other diseases and syndromes. In Lowe syndrome, the Fanconi syndrome may be mild and involve only a few substances or may be severe and involve large losses of many substances. Medications can be prescribed to replace the lost substances.

8. Rd.com: lowe syndrome, its alternate names, a general discussion and resources. http://www.rd.com/common/nav/index.jhtml?articleId=8612077

9. Pediatric Database 1. Background. lowe syndrome first described in 1952 http://www.icondata.com/health/pedbase/files/LOWE%28OCU.HTM

Pediatric Database (PEDBASE) Discipline: GEN Last Updated: 6/15/94 LOWE (OCULO-CEREBRO-RENAL) SYNDROME DEFINITION: An x-linked recessive disorder of unknown etiology resulting in an ocular, cerebral, and renal syndrome. EPIDEMIOLOGY: incidence: rare (about 50 cases worldwide) age of onset: newborn (hypotonia, cataracts) risk factors: familial - x-linked recessive chrom.#: Xq26.1 gene: ? PATHOGENESIS: 1. Background Lowe Syndrome first described in 1952 2. Genetic Defect prenatal phenotypic expression as infants born with hypotonia and cataracts three distinct phases of syndrome: 1. Infancy neurologic and ophthalmologic manifestations predominant with renal tubular dysfunction presenting within the first year of life 2. Childhood 3. Late Childhood death from inanition, pneumonia, chronic renal failure CLINICAL FEATURES: 1. Ophthalmologic Manifestations superficial granulations with corneal scarring bilateral congenital cataracts (100%) glaucoma +/- buphthalmos miotic pupils enophthalmos 2. Neurological Manifestations infantile hypotonia gross motor developmental delay reduced or absent deep tendon reflexes muscle wasting moderate to severe mental retardation speech/language/communication disabilities 3. Renal Manifestations

10. Lowe Syndrome Association Home Page Publications Living with lowe syndrome. LSA Information http://www.lowesyndrome.org/lwls/lwls-toc.html

Home Page Publications Living with Lowe Syndrome LSA Information About the LSA News Donations Membership ... LSA-Talk Lowe Syndrome What is Lowe Syndrome? FAQ Diagnosis Testing Labs ... Living with LS Booklet Conferences 2004 Plans Past Conferences Research Research Fund Current RFP Grants International French LSA UK Trust Australia Links Living with Lowe Syndrome A Guide for Parents, Friends, and Professionals (©2000) Table Of Contents Foreword I. Frequently Asked Questions II. Background III. Medical Features IV. Genetics V. Research VI. Development and Education VII. Parents and Families: Living with LS VIII. The Lowe Syndrome Association IX. Glossary X.Medical and Scientific References Table of Contents Foreword I. Frequently Asked Questions II. Background A. Historical Review B. Incidence and Prevalence

11. UK Lowe Syndrome Trust lowe syndrome. lowe syndrome is named after Doctors Lowe, Terrey, and MacLachlanwho first described in 1952 at the Massachusetts General Hospital in Boston. http://www.lowetrust.com/about_lowes.shtml

registered charity no 1081241 Home Donations Research Grants About the LST ... Contact Lowe Syndrome. Lowe syndrome is caused by a low activity of the enzyme inositol polyphosphate 5-phosphatase OCRL-1, which is encoded by the OCRL "Lowe Syndrome" is named after Doctors Lowe, Terrey, and MacLachlan who first described in 1952 at the Massachusetts General Hospital in Boston. Because of the three major organ systems involved (eyes, brain, and kidney), it is also known as OCRL (Oculo-Cerebro-Renal) syndrome. The syndrome is caused by a DNA mutation - a single defective gene on the X-chromosome - that results in the lack of an enzyme. The mutation can occur without any family history or be hereditary. Boys are born with cataracts, hypotomia (muscle weakness), kidney problems (wasting of essential nutrients) poor growth, intellectual impairment (autistic spectrum disorder) and may later suffer from arthritis, rickets, epilepsy (seizures) and behavior problems. The diagnosis may be confirmed by testing for reduced levels of the OCRL enzyme in cultured skin fibroblasts or by a DNA test using a blood sample. Some boys are mildly affected and able to attend normal schools with special needs help, while others are severely affected with loss of sight and mobility. The NHS approach is of separate treatments for each clinical symptom, and family support by the local authorities through a special needs assessment A complete description is available from the Lowe Syndrome Association USA booklet

12. Lowe Syndrome lowe syndrome. Who to Contact Where to Go to Chat with Others Learn More AboutIt Web Sites Search AltaVista for lowe syndrome . Books on Lowe's Syndrome. http://www.familyvillage.wisc.edu/lib_lowe.htm

Lowe Syndrome Who to Contact Where to Go to Chat with Others Learn More About It Web Sites ... Search AltaVista for "Lowe Syndrome" Who to Contact Lowe Syndrome Association 222 Lincoln Street West Lafayette IN 47906 E-mail: lsa@medhelp.org Where to Go to Chat with Others Metabolic Disorders on-line discussion groups. on-line discussion groups Learn More About It Lowe Syndrome information from AAN Lowe Syndrome information from PedBase Lowe Syndrome information from OMIM Books on Lowe's Syndrome Back to [ K - L Family Village Home Library Coffee Shop ... Information Last Updated April 7, 1999 by familyvillage@waisman.wisc.edu Document Source: http://www.familyvillage.wisc.edu/lib_lowe.htm

13. Health Information Resource Database: Lowe Syndrome Association, Inc. lowe syndrome Association, Inc. Contact Information. Secretary 222 Lincoln StreetWest Lafayette, IN 47906. Abstract. The lowe syndrome Association, Inc. http://www.health.gov/NHIC/NHICScripts/Entry.cfm?HRCode=HR2056

14. Database Search Results Database Search Results. Searched keywords for Lowe's Syndrome.lowe syndrome Association, Inc. NHIC Home Page http://www.health.gov/nhic/NHICScripts/Hitlist.cfm?Keyword=Lowe's Syndrome

15. The Contact A Family Directory - LOWE SYNDROME printer friendly, lowe syndrome, lowe syndrome ASSOCIATION. lowe syndromeAssociation 29 Gleneagles Drive Penwortham Preston PR1 0JT http://www.cafamily.org.uk/Direct/l39.html

printer friendly LOWE SYNDROME home more about us in your area conditions information ... how you can help search this site Lowe Syndrome: oculo-cerebro-renal syndrome This condition is a rare, inheritable, progressive metabolic disease affecting the eyes, brain and kidneys. The eye is affected by cataracts present from birth; glaucoma nystagmus (rolling of the eyes) and strabismus (squint) are also common. Corneal opacity due to overgrowth of scar tissue can occur in about half the patients, and may cause blindness if it covers the central portion of the cornea. Renal tubular dysfunction, which causes loss of phosphate, acidosis, short stature, and renal rickets, is treatable with phosphate and bicarbonate replacement therapy. Learning ability varies from mild to normal or severe difficulties. Behavioural problems are also common. Seizures affect about half of the children diagnosed with the syndrome. There is no specific treatment available although medications may be helpful for the neurological and behavioural abnormalities. Inheritance patterns X-linked. The gene causing Lowe syndrome has been identified and over 70 different alterations in the gene have been described in patients. The gene encodes an enzyme (phosphatidylinositol 4,5 bisphosphate 5-phosphatase) the function of which can be tested in a small sample of skin that has been cultured in the laboratory. Demonstrating loss of function of the enzyme is the most straightforward and definitive laboratory test for Lowe syndrome.

16. Lowe Syndrome lowe syndrome. Lowe's Syndrome Association, Inc. 222 Lincoln St West Lafayette, IN47906 Phone (317) 7433634 Contact Kaye McSpadden E-mail kayeuulsa@aol.com http://www.kumc.edu/gec/support/lowe.html

Lowe syndrome Lowe's Syndrome Association, Inc. 222 Lincoln St West Lafayette, IN 47906 Phone: (317) 743-3634 Contact: Kaye McSpadden E-mail: kayeuulsa@aol.com Also See: National organizations with information on genetic conditions or birth defects - variety of resources To locate a genetic counselor or geneticist in your area: Professional Genetics Societies Genetic clinics, centers, departments Genetic Societies Clinical Resources ... Search Genetics Education Center Debra Collins, M.S. CGC , Genetic Counselor, dcollins@kumc.edu This site subscribes to the principles of the HONcode (Health on the Net, Code of Conduct for Medical and Health Web Sites) of the Health On the Net Foundation

17. Lowe Syndrome (Specific Eye Conditions Web Site) lowe syndrome Trust. lowe syndrome Trust, 77 West Heath Road, Hampstead, LondonNW3 7TH. If you are a family affected by lowe syndrome, contact us. http://www.eyeconditions.org.uk/lowe.htm

SP ecific E ye C ondition S www.eyeconditions.org.uk Lowe Syndrome Trust Lowe Syndrome Trust, 77 West Heath Road, Hampstead, London NW3 7TH Tel: +44 (0)208 458 6791 E-Mail: lthomas@ lowetrust.com Website: www.lowetrust.com In 1983 a handful of parents founded the Lowe Syndrome Association (LSA). The LSA is an international, voluntary, non-profit organization made up of parents, friends, professionals, and others who are interested in Lowe syndrome, a rare genetic condition that affects boys. The primary purposes of the LSA are: to foster communication among families, to promote a better understanding of the syndrome, to provide medical and educational information, and to encourage and support research. Since Lowe syndrome is rare, affected families often feel isolated and alone. If you know of such a family, you can help by giving them information about the Lowe Syndrome Association. If you are a family affected by Lowe syndrome, contact us. You are but an email message away from linking with other families living with this rare and complicated condition. Return to SPECS Home Page

18. Health Library - Lowe Syndrome lowe syndrome. None. General Discussion. lowe syndrome, also known as oculocerebro-renalsyndrome, is a rare inherited metabolic disease that affects males. http://yalenewhavenhealth.org/library/healthguide/IllnessConditions/topic.asp?hw

19. Health Library - Lowe Syndrome lowe syndrome. Self Help Clearinghouse. lowe syndrome Association. Internationalnetwork. Founded 1983.Fosters communication http://yalenewhavenhealth.org/Library/HealthGuide/SelfHelp/topic.asp?hwid=shc29l

20. Health Library - Lowe Syndrome lowe syndrome. None. General Discussion. lowe syndrome, also known as oculocerebro-renalsyndrome, is a rare inherited metabolic disease that affects males. http://www.laurushealth.com/library/healthguide/illnessconditions/topic.asp?hwid

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