81. Primary Etiologies Of Deaf-Blindness - Alphabetically Total 10713 Aicardi syndrome 29 Alport syndrome 4 alstrom syndrome 16 Apert syndrome(Acrocephalosyndactyly, Type 1) 13 Asphyxia 359 BardetBiedl syndrome http://www.tr.wou.edu/dblink/etiologies-alpha.htm

DB-LINK The National Information Clearinghouse On Children Who Are Deaf-Blind Return to DB-LINK Home page - Text only version or Graphics version Return to Selected Topics Text only version or Graphics version Download this page in MSWord - etiologies-alpha.doc Primary Etiologies of Deaf-Blindness - Alphabetically 2000 National Deaf-Blind Child Count Teaching Research, Monmouth, OR This data courtesy of NTAC - The National Technical Assistance Consortium for Children and Young Adults Who Are Deaf-Blind Primary Etiology (Alphabetical) Total 10713 Aicardi syndrome 29 Alport syndrome 4 Alstrom syndrome 16 "Apert syndrome (Acrocephalosyndactyly, Type 1)" 13 Asphyxia 359 Bardet-Biedl syndrome (Laurence Moon-Biedl) 15 Batten disease 15 CHARGE association 441 Chemically Induced 19 "Chromosome 18, Ring 18" 16 Cockayne syndrome 11 Cogan Syndrome 1 Complications of Prematurity 1217 Congenital Rubella 215 Congenital Syphilis 6 Congenital Toxoplasmosis 49 Cornelia de Lange 64 Cri du chat syndrome (Chromosome 5p- syndrome) 10 Crigler-Najjar syndrome 1 Crouzon syndrome (Craniofacial Dysotosis) 7 Cytomegalovirus (CMV) 321 Dandy Walker syndrome 53 Direct Trauma to the eye and/or ear 8 Down syndrome (Trisomy 21 syndrome) 275 Encephalitis 128 Fetal Alcohol syndrome 56 Goldenhar syndrome 56 Hallgren syndrome 3 Herpes-Zoster (or Hunt) 2 Hunter Syndrome (MPS II) 6 Hurler syndrome (MPS I-H) 7 Hydrocephaly 340 Infections 33 Kearns-Sayre syndrome 8 Klippel-Feil sequence 7 Klippel-Trenaunay-Weber syndrome 4

82. Primary Etiologies Of Deaf-Blindness - By Frequency syndrome 30 Aicardi syndrome 29 Norrie disease 25 Chemically Induced 19 Trisomy18 (Edwards syndrome) 18 Refsum syndrome 17 alstrom syndrome 16 Chromosome 18 http://www.tr.wou.edu/dblink/etiologies-freq.htm

DB-LINK The National Information Clearinghouse On Children Who Are Deaf-Blind Return to DB-LINK Home page - Text only version or Graphics version Return to Selected Topics Text only version or Graphics version Download this page in MSWord - etiologies-freq.doc Primary Etiologies of Deaf-Blindness by Frequency 2000 National Deaf-Blind Child Count Teaching Research, Monmouth, OR This data courtesy of NTAC - The National Technical Assistance Consortium for Children and Young Adults Who Are Deaf-Blind Primary Etiology by Frequency (Most Common) Total 10713 No Determination of Etiology 2138 Complications of Prematurity 1217 OTHER: Hereditary Synd/ Disorders 1134 OTHER: Pre-Natal/ Congenital Complications 733 OTHER: Post-Natal/ Non-Congenital 604 CHARGE association 441 Microcephaly 440 Meningitis 360 Asphyxia 359 Hydrocephaly 340 Cytomegalovirus (CMV) 321 Down syndrome (Trisomy 21 syndrome) 275 Missing 267 Usher I syndrome 233 Severe Head Injury 232 Congenital Rubella 215 Encephalitis 128 Maternal Drug Use 87 Usher II syndrome 76 Cornelia de Lange 64 Stroke 60 Tumors 59 Fetal Alcohol syndrome 56 Goldenhar syndrome 56 Dandy Walker syndrome 53 "Trisomy 13 (Trisomy 13-15, Patau syndrome)" 53

83. Primary Identified Etiology - Deafblind 102 Alport syndrome. 103 alstrom syndrome. 104 Apert syndrome (Acrocephalosyndactyly,Type 1). 105 BardetBiedl syndrome (Laurence Moon-Biedl). 106 Batten disease. http://www.tsbvi.edu/Education/db-etiology.htm

Home Site TOC Site Search Education Primary Identified Etiology - Deafblind Links about Syndromes and Rare Diseases Hereditary/Chromosomal Syndromes and Disorders 101 Aicardi syndrome 102 Alport syndrome 103 Alstrom syndrome 104 Apert syndrome (Acrocephalosyndactyly, Type 1) 105 Bardet-Biedl syndrome (Laurence Moon-Biedl) 106 Batten disease 107 CHARGE association 108 Chromosome 18, Ring 18 109 Cockayne syndrome 110 Cogan Syndrome 111 Cornelia de Lange 112 Cri du chat syndrome (Chromosome 5p- syndrome) 113 Crigler-Najjar syndrome 114 Crouzon syndrome (Craniofacial Dysotosis) 115 Dandy Walker syndrome 116 Down syndrome (Trisomy 21 syndrome) 117 Goldenhar syndrome 118 Hand-Schuller-Christian (Histiocytosis X) 119 Hallgren syndrome 120 Herpes-Zoster (or Hunt) 121 Hunter Syndrome (MPS II) 122 Hurler syndrome (MPS I-H) 123 Kearns-Sayre syndrome 124 Klippel-Feil sequence 125 Klippel-Trenaunay-Weber syndrome 126 Kniest Dysplasia 127 Leber congenital amaurosis 128 Leigh Disease 129 Marfan syndrome 130 Marshall syndrome 131 Maroteaux-Lamy syndrome (MPS VI) 132 Moebius syndrome 133 Monosomy 10p 134 Morquio syndrome (MPS IV-B) 135 NF1 - Neurofibromatosis (von Recklinghausen disease) 136 NF2 - Bilateral Acoustic Neurofibromatosis 137 Norrie disease 138 Optico-Cochleo-Dentate Degeneration 139 Pfieffer syndrome 140 Prader-Willi 141 Pierre-Robin syndrome 142 Refsum syndrome 143 Scheie syndrome (MPS I-S) 144 Smith-Lemli-Opitz (SLO) syndrome 145 Stickler syndrome 146 Sturge-Weber syndrome 147 Treacher Collins syndrome 148 Trisomy 13 (Trisomy 13-15, Patau syndrome)

84. MaineScience - Happenings - News BAR HARBOR, Maine — The Jackson Laboratory has discovered a human gene responsiblefor a rare condition called alstrom syndrome, marking the first human gene http://www.mainescience.org/news/2002/04h_jax.html

Jackson Laboratory "Human gene, cause of rare disease, found" Information on Alström Syndrome Nature Genetics Jackson Lab discovers gene responsible for rare disease Associated Press April 9, 200 BAR HARBOR, Maine — The Jackson Laboratory has discovered a human gene responsible for a rare condition called Alstrom Syndrome, marking the first human gene to be discovered by the institution. Mutations to the gene, ALMS1, cause the syndrome, a rare condition that affects about 170 people. The discovery may lead to a greater understanding of conditions like obesity and diabetes, researchers say. "Obesity is one of the critical health issues of our time. This discovery provides researchers with another insight and entry point into understanding obesity," said Jurgen K. Naggert, a member of the research team. Jurgen and another Jackson Lab researcher, Patsy M. Nishina, noticed that like their mouse models, children with this genetic condition become blind, obese, hearing impaired and diabetic.

85. Health Library - Alstrom's Syndrome alstrom's syndrome. Self Help Clearinghouse. Society for alstrom's syndromeFamilies. International network. 2 affiliated groups. http://bhagh.nhshealth.org/Library/HealthGuide/SelfHelp/topic.asp?hwid=shc29als

86. Health Library - Alstrom's Syndrome alstrom's syndrome. Self Help Clearinghouse. Society for alstrom's syndromeFamilies. International network. 2 affiliated groups. http://yalenewhavenhealth.org/Library/HealthGuide/SelfHelp/topic.asp?hwid=shc29a

87. Health Library - Alstrom's Syndrome Saint Luke's Health System eLibrary. alstrom's syndrome. Self Help Clearinghouse.Society for alstrom's syndrome Families. International network. http://hvelink.saint-lukes.org/library/healthguide/SelfHelp/topic.asp?hwid=shc29

88. Society For Alstrom's Syndrome Families Society for alstrom's syndrome Families. International network. Founded 1995.Mutual support and networking for families affected by alstrom's syndrome. http://www.medhelp.org/amshc/amshc243.htm

Title: National Alopecia Areata Foundation Description: Support network for people with alopecia areata, totalis, and universalis. Goals: set up support groups around country, educate the public, and fund-raise for research. Bimonthly newsletter, support group guidelines. Scope: National Number Groups: 85 support groups Founded: Address: P.O. Box 150760 710 C St. San Rafael, California, 94901 United States Telephone: Fax: Email: info@naaf.org Web Address: http://www.naaf.org This information has been generously provided by The American Self Help Clearinghouse and hosted by Med Help International . Please send corrections/updates to ed@selfhelpgroups.org Updated: 02/2003

89. The Contact A Family Directory - ALSTRÖM SYNDROME Alström syndrome UK 49 Southfield Avenue Paignton TQ3 1LH Tel 01803 842855 FamilySupport Line Tel/Fax 01803 524238 Office email info@alstrom.org.uk Web Site http://www.cafamily.org.uk/Direct/a38.html

printer friendly home more about us in your area ... how you can help search this site The first sign usually noticed in affected children is an involuntary rapid movement of the eye (nystagmus) and light sensitivity which begins in infancy and eventually leads to retinopathy ( a degeneration of the retina, the thin, light sensitive lining at the back of the eye) and blindness. As infants and toddlers, affected children are generally overweight. Hearing impairment usually begins before the children are 10 years old. Later, in young adulthood, children develop high levels of insulin in the blood, diabetes mellitus, and slowly progressive kidney problems. Inheritance patterns Autosomal recessive Pre-natal diagnosis None Medical text last updated in October 1999 and approved by Dr R Paisley, Consultant Physician, Torbay Hospital, Torquay, UK. Further Online Resources Medical texts in The Contact a Family Directory are designed to give a short, clear description of specific conditions and rare disorders. More extensive information on this condition can be found on a range of reliable, validated web sites and links to them are included in the CD-ROM version of this Directory. Further information on these resources can be found in our

90. Health Library - Alstrom's Syndrome Search. alstrom's syndrome. Self Help Clearinghouse. Society for alstrom'ssyndrome Families. International network. 2 affiliated groups. http://uhcs.universityhealth.org/library/healthguide/selfhelp/topic.asp?hwid=shc

91. Èñ±ÍÇÑ ºñ¸¸ ÁúȯÀ» ÀÏÀ¸Å°´Â À¯ÀüÀÚ ¹ß°ß - ¿µ The summary for this Korean page contains characters that cannot be correctly displayed in this language/character set. http://bric.postech.ac.kr/bbs/trend/0204/020410-16.html

¹Ì±¹°ú ¿µ±¹ÀÇ ¿¬±¸ÁøµéÀº À¯¾Æµé¿¡ À־ ºñ¸¸°ú »·Â Àå¾Ö, ½·Â Àå¾ÖµéÀ» ÀÏÀ¸Å°¸ç, ½ÉÁö¾î Á¶±â »ç¸ÁÀ» À¯¹ßÇÏ´Â Èñ±ÍÇÑ À¯Àü ÁúȯÀÎ Alstrom syndromeÀÇ ¿øÀÎÀÌ µÇ´Â À¯ÀüÀÚ¸¦ ¹ß°ßÇس´Ù. Gene Found for Rare Obesity Disorder Researchers in the US and Britain have pinpointed a gene they say causes Alstrom syndrome, a rare, inherited disorder that causes obesity, hearing and vision disorders in infants and eventually, premature death. "If we want to figure out ways to treat disease, we need to know the pathology and nature of the gene, that's the first step," study co-author Dr. Jurgen K. Naggert, a staff scientist at the Jackson Laboratory in Bar Harbor, Maine, told Reuters Health. "One day, we hope to contribute to the understanding of this disease and figure a way out of it." Alstrom syndrome is an extremely rare hereditary condition that was first identified in 1959. The disorder, affecting only around 170 people worldwide, is usually diagnosed shortly after birth, when babies begin gaining excessive amounts of weight and suffer vision difficulties. There is no treatment and by adulthood, patients can develop life-threatening diabetes, heart and kidney failure. The researchers at Jackson Laboratory, as well as a second team at Southampton University in the UK, independently studied the genetic makeup of individuals with Alstrom syndrome and family members of those affected by the disorder. Their findings were released in the advance online publication of the journal Nature Genetics.

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