61. NORD - National Organization For Rare Disorders, Inc. AIDS (Acquired Immune Deficiency syndrome) AIDS Dysmorphic syndrome APECED syndrome Aarskog syndrome Aase syndrome Ablepharon Macrostomia syndrome http://www.rarediseases.org/search/rdblist.html

Database Subscriptions Many libraries, schools, universities, and hospitals subscribe to NORD's Rare Disease Database for unlimited access to reports on more than 1,150 diseases. Index of Rare Diseases This is the list of diseases currently covered in the Rare Disease Database. Rare Disease Database Search this database for reports on more than 1,150 diseases. View sample report Index of Organizations This is the list of organizations in NORD's Organizational Database. Organizational Database Read about more than 2,000 patient organizations and other sources of help. NORD's Washington Office Read about events on Capitol Hill, funding for rare-disease research, and other topics of interest from NORD's office in Washington, DC. 5 Oxoprolinuria ACTH Deficiency AIDS (Acquired Immune Deficiency Syndrome) AIDS Dysmorphic Syndrome ... HOME Last modified Monday, September 05, 2005

62. Ablepharon Macrostomia Syndrome Ablepharon Macrostomia syndrome (AMS) is an extremely rare inherited disordercharacterized by various http://my.webmd.com/hw/health_guide_atoz/nord1093.asp

var guid_source = ""; var guid_source_id = ""; //unused var encodedurl = ""; WebMD Today Home WebMD News Center XML News via RSS Member Services WebMD University My WebMD Find a Physician Medical Info Check Symptoms Medical Library Health Tools Clinical Trials ... Women, Men, Lifestyle Who We Are About WebMD Site Map You are in Medical Library Choose a Topic Our Content Sources Ask A Question Clinical Trials Health Guide A-Z Health Topics Symptoms Medical Tests Medications ... For a Complete Report Ablepharon Macrostomia Syndrome Important It is possible that the main title of the report Ablepharon Macrostomia Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms AMS Disorder Subdivisions None General Discussion Ablepharon-Macrostomia Syndrome (AMS) is an extremely rare inherited disorder characterized by various physical abnormalities affecting the head and facial (craniofacial) area, the skin, the fingers, and the genitals. In addition, affected individuals may have malformations of the nipples and the abdominal wall. Infants and children with AMS may also experience delays in language development and, in some cases, mental retardation. Resources Children's Craniofacial Association 13140 Coit Road Suite 307 Dallas, TX 75240

63. Index AMS Ablepharon Macrostomia syndrome AMS Mountain Sickness, Acute Amylo1,6-Glucosidase Deficiency Amyloid Arthropathy of Chronic Hemodialysis http://my.webmd.com/hw/index/index-topics-A.asp

var guid_source = ""; var guid_source_id = ""; //unused var encodedurl = ""; WebMD Today Home WebMD News Center XML News via RSS Member Services WebMD University My WebMD Find a Physician Medical Info Check Symptoms Medical Library Health Tools Clinical Trials ... Women, Men, Lifestyle Who We Are About WebMD Site Map You are in Medical Library Choose a Topic Our Content Sources Ask A Question Clinical Trials Health Guide A-Z Health Topics Symptoms Medical Tests Medications ... Support Organizations Search the Help Health Topics Click a letter to see a list of topics beginning with that letter A B C D ... AZ A A Beta-2-Microglobulin Amyloidosis back to top A1AT Deficiency back to top AA Aarskog Syndrome Aarskog-Scott Syndrome AAS Aase Syndrome ... back to top AB Abdominal Migraine Abdominal Muscle Deficiency Syndrome Abdominal Wall Defect Abercrombie Syndrome ... back to top AC ACADL ACADM Deficiency Acampomelic campomelic "Dysplasia" Acanthocheilonemiasis ... back to top AD Adamantiades-Behcet's Syndrome Adamantinoma Adams Oliver Syndrome Adapting to reduced vision from age-related macular degeneration ... back to top AE AE AEC Syndrome back to top AF AFD Afibrinogenemia, Congenital

64. Ablepharon Macrostomia Syndrome Synonyms, Eastern Carolina Ablepharon Macrostomia syndrome Synonyms University Health Systems of EasternCarolina serves tarboro, ahoskie, edento, winsor, maxhead, dear county, http://www.uhseast.com/111878.cfm

Health News Health Library Health Topics Healthy Living ... Nutrition Information on diseases and health concerns, including symptoms, treatment options, and prevention. Ablepharon Macrostomia Syndrome Synonyms Disorder Subdivisions General Discussion Resources ... For a Complete Report Important It is possible that the main title of the report Ablepharon Macrostomia Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms AMS Disorder Subdivisions None General Discussion Ablepharon-Macrostomia Syndrome (AMS) is an extremely rare inherited disorder characterized by various physical abnormalities affecting the head and facial (craniofacial) area, the skin, the fingers, and the genitals. In addition, affected individuals may have malformations of the nipples and the abdominal wall. Infants and children with AMS may also experience delays in language development and, in some cases, mental retardation. Resources Children's Craniofacial Association 13140 Coit Road Suite 307 Dallas, TX 75240

65. Ablepharon Macrostomia Syndrome - Synonyms Of Augusta, Georgia Ablepharon Macrostomia syndrome Synonyms - University Health Care System ofAugusta, Georgia. http://www.universityhealth.org/12840.cfm

About University About Augusta Business and Industry Contact UHCS ... Nutrition Search Information on diseases and health concerns, including symptoms, treatment options, and prevention. Ablepharon Macrostomia Syndrome Synonyms Disorder Subdivisions General Discussion Resources ... For a Complete Report Important It is possible that the main title of the report Ablepharon Macrostomia Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms AMS Disorder Subdivisions None General Discussion Ablepharon-Macrostomia Syndrome (AMS) is an extremely rare inherited disorder characterized by various physical abnormalities affecting the head and facial (craniofacial) area, the skin, the fingers, and the genitals. In addition, affected individuals may have malformations of the nipples and the abdominal wall. Infants and children with AMS may also experience delays in language development and, in some cases, mental retardation. Resources Children's Craniofacial Association 13140 Coit Road Suite 307 Dallas, TX 75240

66. Arch Ophthalmol -- Familial Occurrence Of Ablepharon Macrostomia Syndrome: Eyeli Ablepharon macrostomia syndrome (AMS) is a rare congenital disorder. To ourknowledge, only 4 cases have been reported since the original description of http://archopht.ama-assn.org/cgi/content/extract/118/3/428

Select Journal or Resource JAMA Archives of Dermatology Facial Plastic Surgery Family Medicine (1992-2000) General Psychiatry Internal Medicine Neurology Ophthalmology Surgery Student JAMA (1998-2004) JAMA CareerNet For The Media Meetings Peer Review Congress Vol. 118 No. 3, March 2000 Featured Link E-mail Alerts Case Reports and Small Case Series Article Options Full text PDF Send to a Friend Readers Reply Submit a reply Similar articles in this journal Literature Track Add to File Drawer Download to Citation Manager PubMed citation Articles in PubMed by Cruz AA Martins FA ISI Web of Science (3) Contact me when this article is cited Familial Occurrence of Ablepharon Macrostomia Syndrome: Eyelid Structure and Surgical Considerations Arch Ophthalmol. Since this article does not have an abstract, we have provided the first 150 words of the full text and any section headings. Ablepharon macrostomia syndrome (AMS) is a rare congenital disorder. To our knowledge, only 4 cases have been reported since the original description of this syndrome by McCarthy and West in 1977.

67. Arch Ophthalmol -- Table Of Contents (Vol. 118 No. 3, March 2000) Familial Occurrence of Ablepharon Macrostomia syndrome Eyelid Structure andSurgical Considerations Antonio AV Cruz; Carmo A. Souza; Victor EF Ferraz; http://archopht.ama-assn.org/content/vol118/issue3/index.dtl

Select Journal or Resource JAMA Archives of Dermatology Facial Plastic Surgery Family Medicine (1992-2000) General Psychiatry Internal Medicine Neurology Ophthalmology Surgery Student JAMA (1998-2004) JAMA CareerNet For The Media Meetings Peer Review Congress Vol. 118 No. 3, pp. 327-456, March 2000 Content Access Sign in/out Activate online subscription One-time access Individual subscriptions ... Register for E-mail Alerts Display Table of Contents PDF Advertisement //This is the Right Skyscraper DisplayAds ("Right1,Position2!Right1", "120", "600"); //This is the Left Skyscraper DisplayAds ("Right1,Position2!Position2", "120", "240"); Table of Contents Jump to Section Clinical Sciences From the Archives 100 Years Ago Web Quiz Winner Laboratory Sciences Epidemiology Special Articles Editorials Controversies Clinicopathologic Reports Case Reports Surgical Techniques Photo Essays Correspondence Obituaries Book and Software Reviews Crossword Puzzle Puzzle Answer News and Comment 50 Years Ago Continuing Medical Education CME Clinical Sciences A Preliminary Study of Photodynamic Therapy Using Verteporfin for Choroidal Neovascularization in Pathologic Myopia, Ocular Histoplasmosis Syndrome, Angioid Streaks, and Idiopathic Causes

68. Ablepharon Macrostomia Syndrome -- Price Et Al. 75 (5): 317 -- British Journal O Ablepharon macrostomia syndrome. NJ Price, RE Pugh, PA Farndon and HE Willshaw Familial Occurrence of Ablepharon Macrostomia syndrome Eyelid Structure http://bjo.bmjjournals.com/cgi/content/abstract/75/5/317

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS Author Keyword(s) Vol Page [Advanced] This Article Submit a response Alert me when this article is cited Alert me when eLetters are posted Alert me if a correction is posted Services Email this link to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Cited by other online articles PubMed PubMed Citation Articles by Price, N. J. Articles by Willshaw, H. E. British Journal of Ophthalmology, 1991, Vol 75, 317-319 ORIGINAL ARTICLES Ablepharon macrostomia syndrome NJ Price, RE Pugh, PA Farndon and HE Willshaw Department of Paediatri, Ophthalmology, Children's Hospital, Birmingham. The association of congenital ablepharon with the absence of eyelashes and eyebrows, a wide mouth (macrostomia), and auricular, nasal, genital, and other systemic anomalies has been termed the ablepharon macrostomia syndrome. One such case is reported which illustrates the importance of

69. BJO Online -- Table Of Contents (75 [5]) Ablepharon macrostomia syndrome NJ Price, RE Pugh, PA Farndon, and HE WillshawBr J Ophthalmol 1991; 75 317319. Abstract http://bjo.bmjjournals.com/content/vol75/issue5/

HOME HELP FEEDBACK SUBSCRIPTIONS ... SEARCH TABLE OF CONTENTS Author Keyword(s) Vol Page [Advanced] Only Abstracts available for this issue Other Issues: May 1991 (Volume 75, Number 5). [Index by author] Find articles in this issue containing these words: [Search ALL Issues] To see an article , click its [Full Text] link. To review many abstracts , check the boxes to the left of the titles you want, and click the 'Get All Checked Abstract(s)' button. To see one abstract at a time , click its [Abstract] link. Original articles: Excimer laser treatment of corneal surface pathology: a laboratory and clinical study D Gartry, M Kerr Muir, and J Marshall Br J Ophthalmol 1991; 75: 258-269. [Abstract] Glaucoma in Hansen's disease RC Walton, SF Ball, and VC Joffrion Br J Ophthalmol 1991; 75: 270-272. [Abstract] Chronic anterior uveitis in leprosy: an insidious cause of blindness CG Espiritu, R Gelber, and HB Ostler

70. Entrez PubMed The ablepharon macrostomia syndrome is an extremely rare congenital anomaly.It is characterised by http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=3

71. Genetics And Molecular Biology - B Barber-Say Syndrome /B B Ablepharon macrostomia syndrome. Am. J. Ophthal. 99 552556. Ablepharonmacrostomia syndrome. Dev. Med. Child Neurol. 19 659-672. http://www.scielo.br/scielo.php?pid=S1415-47572000000200003&script=sci_arttext&t

72. Genetics And Molecular Biology - B Barber-Say Syndrome /B B Ablepharon macrostomia syndrome. Am. J. Ophthal. 99 552556. Mart?z Santana, S., Ablepharon macrostomia syndrome. Dev. Med. Child Neurol. 19 659-672. http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572000000200003

73. Birth Disorder Information Directory - BA-BL Ablepharon macrostomia syndrome with associated cutis laxa possible localizationto 18q barber say syndrome BARBERSAY syndrome. Bardet Biedl syndrome http://www.bdid.com/defectba.htm

HOME Ba-Bl B-K Mole Syndrome See Melanoma, Familial/Cutaneous Malignant Type Bader Syndrome (Odontomatosis Aortae Oesophagus Stenosis, Odontoma Dysphagia Syndrome) bader syndrome ODONTOMA-DYSPHAGIA SYNDROME BADS Syndrome See Black Locks with Albinism and Deafness Syndrome Baelz Syndrome (Cheilitis Glandularis) baelz syndrome CHEILITIS GLANDULARIS Bagatelle Cassidy Syndrome (Macrocephaly Short Limbs Deafness) bagatelle cassidy syndrome Bahemuka Brown Syndrome (Spastic Paraplegia Facial Cutaneous Lesions) bahemuka brown syndrome Baker Vinters Syndrome (Hydrocephalus Craniosynostosis Bifid Nose) baker vinters syndrome Ballard Syndrome (Brachydactyly, Combined B and E Types; Pitt Williams Brachydactyly) ballard syndrome BRACHYDACTYLY, COMBINED B AND E TYPES Baller Gerold Syndrome See Craniosynostosis-Radial Aplasia Syndrome Ballinger Wallace Syndrome (Diabetes-Deafness Syndrome, Maternally Transmitted; Diabetes Mellitus, Noninsulin-Dependent/Type II, with Deafness) Ballinger-wallace syndrome DIABETES-DEAFNESS SYNDROME, MATERNALLY TRANSMITTED Bamboo Hair Syndrome See Netherton Disease Bamforth Syndrome (Hypothyroidism, Athyroidal, with Spiky Hair and Cleft Palate)

74. Annals Of Plastic Surgery - UserLogin Ablepharon macrostomia syndrome. Am J Ophthalmol 1985; 99 552556. MedlineLink Context Link. 8. Singh A, Malhorta G, Singh GP, et al. http://www.annalsplasticsurgery.com/pt/re/annps/fulltext.00000637-200109000-0003

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75. Leri Weill Search Results (January 2000) 5 5 Oxoprolinuria A Aarskog syndrome Aase syndrome Ablepharon Macrostomiasyndrome Acanthocheilonemiasis Acanthocytosis Acanthosis Nigricans Achalasia http://www.ilizarov.org.uk/leri.htm

The following is a list of sites discovered relating to Leri Weill Syndrome and other aspects of dwarfism. SHOX - Short stature homeobox Gene symbol : SHOX Location : Xp Mutations in this gene were first reported in 1997 Rao (1997) Nat Genet 16, 54 Number of entries by mutation type Click on the respective mutation type to view detailed information about the... http://www.uwcm.ac.uk/uwcm/mg/search/6118451.html NORD - Dyschondrosteosis http://www.stepstn.com/nord/rdb_sum/888.htm NHGRI Homeodomain Resource: Mutation Submission Form - Homeodomain Home Submit Mutation Data Protein Name Mutation Name Map Location Nucleotide Position Codon Number Exon Number Intron Number Wild type DNA sequence at above postion Mutated DNA sequence at above postion At DNA/RNA level Deletion, in... http://genome.nhgri.nih.gov/homeodomain/submission MUMS: List of Disorders - "K - L" - MUMS: List of Disorders K - L Kabuki Make-up Syndrome (13) * Kallmann Syndrome (DeMorisier Dysplasia Olfactorgenitalis) (1) * Kartagener Syndrome (5)Kasabach-Merritt (1) Kawasaki Disease (8) Kearns-Sayre Syndrome (5)Keratoconus (cornea disorder) .. http://www.netnet.net/mums/mum_k-l.htm

76. List Of Diseases Starting With A: Information From Answers.com ABCDEFGHIJKLMNOPQRSTU VWXYZ AaAb Aagenaes syndrome Aarskog Ose. Abdominalneoplasms; Aberrant subclavian artery; Ablepharon macrostomia syndrome http://www.answers.com/topic/list-of-diseases-starting-with-a

showHide_TellMeAbout2('false'); Business Entertainment Games Health ... More... On this page: Wikipedia Mentioned In Or search: - The Web - Images - News - Blogs - Shopping List of diseases starting with A Wikipedia List of diseases starting with A A listing of diseases A B C D E ... Z Aa-Ab Aagenaes syndrome Aarskog Ose Pande syndrome Aarskog syndrome Aase Smith syndrome Aase syndrome ABCD syndrome Abdallat Davis Farrage syndrome Abdominal aortic aneurysm Abdominal cystic lymphangioma Abdominal defects Abdominal musculature absent microphthalmia joint laxity Abdominal neoplasms Aberrant subclavian artery Ablepharon macrostomia syndrome Ablutophobia Abnormal systemic venous return Abruzzo Erickson syndrome Absence of Gluteal muscle Absence of tibia with polydactyly Absent corpus callosum cataract immunodeficiency Absent T lymphocytes Ac Aca-Acc Acalvaria Acanthocheilonemiasis Acanthocytosis chorea Acanthocytosis Acanthosis nigricans muscle cramps acral enlargement Acarophobia Acatalasemia Accessory deep peroneal nerve Accessory Navicular bone Accessory pancreas Ach-Ack Achalasia alacrimia syndrome Achalasia microcephaly Achalasia, familial esophageal

77. Barber-Say Syndrome The Barber Say syndrome seems to differ from the ablepharon macrostomia syndrome,but it may derive from a different mutation on the same gene. http://www.orpha.net/static/GB/barbersay_syndrome.html

Orphanet database access Barber-Say syndrome Direct access to data Summary Clinical signs Ear anomaly (shape/structure) Ectropion External auditory meatus atretic/absent Increased body hair Long/large/bulbous nose Loose skin Macrostoma Skin hypoplasia/atrophy Telecanthus Autosomal dominant inheritance Autosomal recessive inheritance X-linked dominant inheritance Update : 04/09/2005 Orphanet database access

78. ORPHANET® : Base De Données Sur Les Maladies Rares Et Les Médicaments Orpheli Ablepharon macrostomia syndrome Abnormal systemic veinous return AbruzzoEricksonsyndrome Absence of pulmonary artery http://www.orpha.net/Pat/GBA.html

List of diseases starting by A Aagenaes syndrome Aarskog like syndrome Aarskog ose pande syndrome Aarskog-Scott syndrome ... Azoospermia sinopulmonary infections

79. Maladies Rares, Maladies Orphelines Aarskog syndrome Aase syndrome Ablepharon Macrostomia syndrome AcanthocheilonemiasisAcanthocytosis Acanthosis Nigricans Achalasia Achard Thiers syndrome http://www.fmo.easynetonline.net/anciensite/listnord.html

Maladies rares maladies orphelines ATTENTION : VOUS ETES SUR L'ANCIEN SITE DE LA FEDERATION DES MALADIES ORPHELINES Vous pouvez vous diriger vers le nouveau site en cliquant - ici Retour Liste NORD http://www.rarediseases.org/lof/lof.html Rare Disease Database - RDB 5 Oxoprolinuria A Aarskog Syndrome Aase Syndrome Ablepharon Macrostomia Syndrome Acanthocheilonemiasis Acanthocytosis Acanthosis Nigricans Achalasia Achard Thiers Syndrome Achondrogenesis Achondroplasia Acidemia, Isovaleric Acidemia, Methylmalonic Acidemia, Propionic Acne Rosacea Acoustic Neuroma Acrocallosal Syndrome, Schinzel Type Acrodermatitis Enteropathica Acrodysostosis Acromegaly Acromesomelic Dysplasia Acromicric Dysplasia ACTH Deficiency Adams Oliver Syndrome Addison's Disease Adie Syndrome Adrenal Hyperplasia, Congenital (General) Adrenoleukodystrophy Afibrinogenemia, Congenital Agammaglobulinemias, Primary Agenesis of Corpus Callosum Agnosia, Primary Visual Agranulocytosis, Acquired Ahumada Del Castillo Syndrome Aicardi Syndrome AIDS (Acquired Immune Deficiency Syndrome) AIDS Dysmorphic Syndrome Alagille Syndrome Albinism Alexander's Disease Alkaptonuria Allan Herndon Syndrome Alopecia Areata Alpers Disease Alpha-1-Antitrypsin Deficiency Alport Syndrome Alstrom Syndrome Alternating Hemiplegia of Childhood Alveolitis, Extrinsic Allergic

80. A Listing Of Disorders Aarskog syndrome. Aase syndrome. Ablepharon Macrostomia syndrome.Acanthocheilonemiasis. Acanthocytosis. Acanthosis Nigricans. Achard Thiers syndrome http://medschool.umaryland.edu/BTBank/Family/Disorders_A.htm

Brain and Tissue Bank University of Maryland, Baltimore A Aarskog Syndrome Aase Syndrome Ablepharon Macrostomia Syndrome Acanthocheilonemiasis Acanthocytosis Acanthosis Nigricans Achard Thiers Syndrome Achondrogenesis Achondroplasia Acidemia, Isovaleric Acidemia, Methylmalonic Acidemia, Propionic Acrocallosal Syndrome, Schinzel Type Acrodermatitis Enteropathica Acrodysostosis Acromegaly Acromesomelic Dysplasia Acromicric Dysplasia ACTH Deficiency Acute Endocarditis Adams Oliver Syndrome Adie Syndrome Adrenal Hyperplasia, Congenital (General) Adrenoleukodystrophy Adrenomyeloneuropathy Afibrinogenemia, Congenital Agammaglobulinemias, Primary Agenesis of Corpus Callosum Agnosia, Primary Visual Agranulocytosis, Acquired Ahumada Del Castillo Syndrome Aicardi Syndrome Alagille Syndrome Albinism Alexander's Disease Alkaptonuria Allan Herndon Syndrome Alpers Disease Alpers-Huttenlocher Syndrome Alpha-1-Antitrypsin Deficiency Alport Syndrome Alstrom Syndrome Alternating Hemiplegia of Childhood Alveolitis, Extrinsic Allergic Alveolitis, Fibrosing Ameloblastoma Amelogenesis Imperfecta Amniotic Band Syndrome Amyloidosis Amyotrophic Lateral Sclerosis Andersen Disease Anemia, Aplastic

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