41. Slider Index: ABA 2000 - Abé, Shana _Texas Abilene Christian Abilene Christian University Athletics Abingdon Town AbingtonCollege Abitur ABL ablepharonmacrostomia syndrome Abnormal Uterine http://www.slider.com/index/indexab.htm

Oil Lamp Arts Business Computers Health ... Sports Trellian WebPage Slider Search: The Web Encyclopaedia Shopping Index Help Encyclopaedia Index A B C D ... Ab©, Shana Slider in: Espa±ol Deutsch Dansk Nederlands ... About Us

42. Select Entries From OMIM -- Online Mendelian Inheritance In Man CRYPTOPHTHALMOS WITH OTHER MALFORMATIONS *123570 CRYPTOPHTHALMOS, UNILATERAL OR BILATERAL,ISOLATED 200110 ablepharonmacrostomia syndrome *206900 ANOPHTHALMOS http://anatomy.med.unsw.edu.au/cbl/embryo/OMIMfind/eye/cryptophthalmos.htm

Select Entries from OMIM Online Mendelian Inheritance in Man Back to Senses Abnormalities 5 entries found, searching for "cryptophthalmos" CRYPTOPHTHALMOS WITH OTHER MALFORMATIONS CRYPTOPHTHALMOS, UNILATERAL OR BILATERAL, ISOLATED ABLEPHARON-MACROSTOMIA SYNDROME ANOPHTHALMOS, TRUE OR PRIMARY ANOPHTHALMOS, CLINICAL; ANOP1

43. Last Updated 18.12.2001 genes; ablepharonmacrostomia syndrome; Alleles of the KIR2DL4 receptorand their lack of association with pre-eclampsia; Association http://www.rusmedserv.com/genetics/review/rev1812.htm

Last Updated 18.12.2001 A genomic map of a 6-Mb region at 13q21-q22 implicated in cancer development-identification and characterization of candidate genes Ablepharon-macrostomia syndrome Alleles of the KIR2DL4 receptor and their lack of association with pre-eclampsia Association analysis of polymorphisms at the interleukin-1 locus in essential hypertension ... Quantification of single nucleotide polymorphisms. A novel method that combines primer extension assay and capillary electrophoresis

44. Rare Disorders In Health > Conditions And Diseases Hardcover. Top categories Aarskog Syndrome@ (6); Aase Syndrome@ (3);Abetalipoproteinemia@ (5); ablepharonmacrostomia syndrome@ (4); http://ilectric.com/browse/web/Health/Conditions_and_Diseases/Rare_Disorders/

Metasearch Directory News Multi-Search ... Login/Out Choose a Search Metasearch - The Web Metasearch - This Site Metasearch - News Metasearch - Auctions Metasearch - Forums Metasearch - Images Metasearch - Shopping Directory - Within This Category Only Directory - Entire Directory - Adult Directory - Arts Directory - Business Directory - Computers Directory - Games Directory - Health Directory - Home Directory - News Directory - Recreation Directory - Reference Directory - Regional Directory - Science Directory - Shopping Directory - Society Directory - Sports Directory - World Shopping - All products Shopping - Books Shopping - Electronics Shopping - Popular music Shopping - Classical music Shopping - DVD's Shopping - VHS Videos Shopping - In Theaters Shopping - Toys Shopping - Computer Hardware Shopping - Software Shopping - Magazines Shopping - Photo Shopping - Garden / Outdoor Living Shopping - Baby Shopping - Kitchen Lookup - Domain in Whois Lookup - Domain Availability Lookup - HTTP Source Lookup - DNS Record W eb Directory Categories Related Sponsored Sites Sites ... Conditions and Diseases Rare Disorders Books See all 6 results in Books...

45. DINO - Language: Englisch - Health - Conditions And Diseases - A Dieser Link verweist auf eine HauptKategorie Abetalipoproteinemia Dieser Link verweistauf eine Haupt-Kategorie ablepharon-macrostomia syndrome Dieser Link http://www.dino-online.de/dino_page_962b3613efa824c8055b17d0f8c114e0.html

Suche Profi-Suche Katalog Video ... Produkte Suchen: Web-Seiten Video Audio Bilder Produkte Schon gewusst? Hier suchen Sie in 2 Milliarden Webseiten. Live-Suche: Was suchen andere Dino-Besucher? You are here: DINO Language Englisch Health ... Conditions and Diseases A A Sprache/Language Categories Aarskog Syndrome Aase Syndrome Abdominal Migraine Abetalipoproteinemia Ablepharon-Macrostomia Syndrome Achilles Tendonitis Achondroplasia Achromatopsia Acid Maltase Deficiency Disease Acoustic Neuroma Acrodynia Acromegaly Activated Protein C Resistance Acute Idiopathic Polyneuritis ADD and ADHD Addiction and Recovery Addison's Disease Adie Syndrome Adiposis Dolorosa Adjustment Disorders Adrenoleukodystrophy Agnosia Agoraphobia Aicardi Syndrome AIDS Dementia Complex Akinetic Mutism Alagille Syndrome Albinism Alcohol Induced Neurotoxicity Syndromes Alcoholism Alexander Disease Alkaptonuria Allergies Alopecia Alpers' Disease Alpha-1 Antitrypsin Deficiency Alport Syndrome Alstrom Syndrome Alternating Hemiplegia Altitude Sickkness Altophobia Alzheimer's Amblyopia Amputee Amyloidosis Amyoplasia Congenita Amyotrophic Lateral Sclerosis Anal Cancer Anal Fissures Anemia Anencephaly Aneurysm Angina Pectoris Anophthalmos Anorexia Anosmia Anterior Knee Pain Syndrome Anthrax Antisocial Anus Neoplasms Anxiety Aortic Valve Disease Apert Syndrome Aphasia Aplastic Anemia Apnea, Sleep

46. Dysmorphic Syndromes NEUROCUTANEOUS syndrome; ABETALIPOPROTEINAEMIA (BASSENKORNZWEIG syndrome);ABLEPHARON-ICHTHYOSIS; ablepharon-macrostomia; ABRUZZO (1977 http://www.hgmp.mrc.ac.uk/DHMHD/view_human.html

View Dysmorphic Syndrome Features Select a dysmorphic syndrome by clicking on the relevant item: AAGENAES - RECURRENT CHOLESTASIS; LYMPHOEDEMA AARSKOG SYNDROME AASE - TRIPHALANGEAL THUMB; CONGENITAL ANAEMIA AASE-SMITH - HYDROCEPHALUS; CLEFT PALATE; JOINT CONTRACTURES ... ZWETSLOOT (1989) - HOLOPROSENCEPHALY; MICROPHTHALMIA

47. Ablepharon Macrostomia Syndrome A personal site with information and links about this disease.Category Health Conditions and Diseases......Ablepharon Macrostomia syndrome. This page is dedicated to AblepharonMacrostomia syndrome or AMS. Information on AMS has been provided http://www.angelfire.com/ga2/AMS/

Ablepharon Macrostomia Syndrome This page is dedicated to Ablepharon Macrostomia Syndrome or AMS. Information on AMS has been provided by the National Organization for Rare Disorders (NORD) and by personal experience and extensive research. Ablepharon Macrostomia Syndrome is an extremely rare inherited genetic disorder that is characterized by different physical abnormalities that affect the head and facial areas, skin, fingers, and the genitalia. The people affected by AMS may also have malformations of the nipples and the abdominal wall. Some of the characteristics of AMS are: lack of or under-developed eyelids(Ablepharon), absence of eyelashes and eyebrows, wide fish-like mouths(Macrostomia), and/or incompletely developed, low set ears. Eye abnormalities may occur due to the ablepharon. People with AMS can also have abnormally sparse, thin hair; coarse, dry, thickened skin with excessive folds. They may have webbed fingers with limited extension of the fingers and may have malformations of the external genitalia. In some cases of AMS, the individual has absent or very small nipples and/or protrusion of portions of the large intestine through an opening in the abdominal wall (abdominal or ventral hernia) The cause of Ablepharon Macrostomia Syndrome is not known, but some of the cases suggest that AMS may be inherited as an autosomal recessive genetic trait.

48. NORD - National Organization For Rare Disorders, Inc. Ablepharon Macrostomia syndrome. To purchase fulltext report ($7.50) Copyright1997, 2001, 2002 Synonyms of Ablepharon Macrostomia syndrome AMS. http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Ablepharon Ma

49. NORD - National Organization For Rare Disorders, Inc. syndrome) AIDS Dysmorphic syndrome APECED syndrome Aarskog syndrome Aase syndromeAblepharon Macrostomia syndrome Acanthocheilonemiasis Acanthocytosis http://www.rarediseases.org/search/rdblist.html

Search NORD's Databases NORD maintains three searchable databases and an alphabetical index of disease names. Index of Rare Diseases The A-to-Z of Rare Diseases Rare Disease Database Read about more than 1,100 rare diseases. View sample report Organizational Database Find a support group or other source of help. Orphan Drug Designation Database Find out about new and experimental orphan products. Database Subscriptions Subscriptions provide complete access to NORD's databases at libraries, schools, universities, and hospitals. 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 Sunday, February 02, 2003

50. Genetic Disorders : Meddie Health Search CATEGORIES Aarskog syndrome (6). Aase syndrome (4). AblepharonMacrostomiasyndrome (4). Alagille syndrome (5). Alkaptonuria (5). Alpha http://www.meddie.com/search/Health/Conditions_and_Diseases/Genetic_Disorders/

HOME ADD A LINK MODIFY A LINK NEW LINKS ... TOP RATED Search Meddie: the entire directory only this category More search options Home Health Conditions and Diseases : Genetic Disorders CATEGORIES: Aarskog Syndrome Aase Syndrome Ablepharon-Macrostomia Syndrome Alagille Syndrome ... Zellweger Syndrome ITEMS: LINKS: Acid Maltase Deficiency A brief summary of AMD along with links and news. (Rating: 0.00 Votes: 0) Rate It Chromosome Deletion Outreach. Provides support and information to families. Includes family stories, a library, FAQs and resources. (Rating: 0.00 Votes: 0) Rate It Dr. Greene's HouseCalls A discussion of medical information on trisomy, trisomy 13, genetics, and his own personal family experience with this rare disease. (Rating: 0.00 Votes: 0) Rate It GeneClinics: Medical Genetics Knowledge Base NIH funded, expert-authored descriptions of inherited disorders. Covers genetic testing in diagnosis and management and genetic counseling of patients. (Rating: 0.00 Votes: 0) Rate It Genetic and Rare Conditions Site Lay advocacy groups, support groups, information on genetic conditions and birth defects for professionals, educators and individuals. Disorders from A-Z. (Rating: 0.00 Votes: 0)

51. MSN Health - Ablepharon Macrostomia syndrome Important It is possible that the main title ofthe report Ablepharon Macrostomia syndrome is not the name you expected. http://content.health.msn.com/NR/internal.asp?GUID={750E6FB0-4B7E-4CBE-89F1-A7A2

52. Service Page - Pathologie Information DISEASE Ablepharon macrostomia syndrome, CIM Q87.0, MIM 200110, Sign(s)of the disease (54), Other website(s) (2), Outpatient clinic(s). http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=920

53. Birth Disorder Information Directory - A HOME AaAf. Aagenaes syndrome (Cholestasis-Lymphedema syndrome http://www.bdid.com/defectaa.htm

HOME Aa-Af Aagenaes Syndrome (Cholestasis-Lymphedema Syndrome) Cholestasis with lymphedema (Aagenaes syndrome) Aagenaes* Syndrom Aagenaes aagenaes syndrome ... Aagenaes* Syndrom Aarskog (Scott) Syndrome (Faciodigitogenital Syndrome, Faciogenital Dysplasia) List of Sites Aarskog-Like Syndrome (Faciodigitogenital Syndrome, Recessive Form; Teebi Naguib Alawadi Syndrome) Aarskog like syndrome FACIODIGITOGENITAL SYNDROME, RECESSIVE Aarskog Ose Pande Syndrome (Lipodystrophy Rieger Anomaly Diabetes) Aarskog ose pande syndrome LIPODYSTROPHY, PARTIAL, WITH RIEGER ANOMALY, SHORT STATURE, AND INSULINOPENIC DIABETES MELLITUS AASE Syndrome (Anemia with Triphalangeal Thumbs) List of Sites AASE Smith Syndrome (Hydrocephalus with Cleft Palate and Joint Contractures) AASE-Smith - Hydrocephalus; Cleft Palate; Joint Contractures AASE-SMITH SYNDROME AASE Smith Aase-Smith syndrome ABCD Syndrome (Albinism, Black Lock, Cell Migration Disorder of the Neurocytes of the Gut, and Deafness) abcd syndrome ABCD SYNDROME Abdallat Davis Farrage Syndrome (Neurocutaneous Syndrome, Abdallat Type; Spastic Paraplegia-Pigmentary Abnormalities) Abdallat (1980) - Neurocutaneous Syndrome SPASTIC PARAPLEGIA WITH PIGMENTARY ABNORMALITIES abdallat davis farrage syndrome abdallat davis farrage syndrome Abdominal Muscle Absence/Aplasia/Deficiency/Defect Anomalad/Syndrome See Prune Belly Syndrome Abetalipoproteinemia (Bassen Kornzweig Syndrome) List of Sites Ablepharon -Ichthyosis Syndrome Ablepharon-Ichthyosis -Macrostomia Syndrome Allison has AMS (Has a photo gallery)

54. Birth Disorder Information Directory - BA-BL BaBl. BK Mole syndrome See Melanoma, Familial/Cutaneous Malignant Type. Badersyndrome (Odontomatosis Aortae Oesophagus Stenosis, Odontoma Dysphagia 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)

55. Mioti: Medical Condition Condition Ablepharon Macrostomia syndrome. NORD Ablepharon Macrostomiasyndrome. Information from the National Organization for Rare Disorders. http://www.mioti.com/cat/condition/condition.asp?Cat=AblepharonMacro

56. Mioti: Medical Condition Aarskog syndrome, • Aase syndrome. • Abdominal Aortic Aneurysm, •Ablepharon Macrostomia syndrome. • Abortion, • Acanthocheilonemiasis. http://www.mioti.com/cat/condition/results.asp?Alpha=A

57. Listings Of The World Health Conditions And Diseases Genetic Ablepharon Macrostomia syndrome is an extremely rare inherited genetic disorder thatis characterized by different physical abnormalities that affect the head http://listingsworld.com/Health/Conditions_and_Diseases/Genetic_Disorders/Ableph

58. Medicalseek - Search Engine For The Healthcare Industry Category Aarskog syndrome Category Aase syndrome Category AblepharonMacrostomiasyndrome Category Alagille syndrome Category Alkaptonuria Category Alpha-1 http://www.medicalseek.net/Conditions_and_Diseases_Genetic_Disorders.html

CATEGORIES ADD A LINK ADVERTISE CONTACT US ... Conditions and Diseases Genetic Disorders Aarskog Syndrome Aase Syndrome Ablepharon-Macrostomia Syndrome Alagille Syndrome ... Dr. Greene's HouseCalls A discussion of medical information on trisomy, trisomy 13, genetics, and his own personal family experience with this rare disease. drgreene.com/html/21614.html Gene Clinics Medical genetics knowledge base. NIH funded, expert-authored descriptions of inherited disorders. Covers genetic testing in diagnosis and management and genetic counseling of patients. geneclinics.org Genetic Disorders: The Links to Diet Explores the role of diet in birth defects and genetic disorders. Includes nutritional links to disorders such as Down syndrome, cerebral palsy and homocystinuria and cystic fibrosis. mindspring.com/~sandysimmons/genetic_di... Genetic and Rare Conditions Site Lay advocacy groups, support groups, information on genetic conditions and birth defects for professionals, educators and individuals. Disorders from A-Z. kumc.edu/gec/support/

59. Rare Diseases List - Office Of Rare Diseases email GARDinfo@nih.gov. Disease Ablepharon macrostomia syndrome.Synonyms AMS. Disease Information. OMIM Logo, The OMIM database http://ord.aspensys.com/diseaseinfo.asp?ID=3

60. Rare Diseases List - Office Of Rare Diseases Aberrant subclavian artery. Ablepharon macrostomia syndrome. Ablutophobia. Abnormalsystemic venous return. Abruzzo Erickson syndrome. Absence of Gluteal muscle. http://ord.aspensys.com/diseases.asp

Office of Rare Diseases Rare Diseases List An orphan or rare disease is generally considered to have a prevalence of less than 200,000 affected individuals in the USA. Certain diseases with more than 200,000 affected individuals are included but subpopulations of these conditions may be less than the prevalence standard for rare disease. This list includes rare diseases and conditions for which information requests have been made to the Office of Rare Diseases. It is updated on a regular basis. We welcome suggestions for additions to the list and your recommendations may be sent via email to: ord@od.nih.gov Please Note: The names of the conditions (listed in alphabetical order) may not necessarily be the most frequently used ones. Clicking on one of the names below will take you to a page that contains information specific for that disease. The links on that page will take you to several sources of information, including: ClinicalTrials.gov, an NIH site that lists ongoing clinical trials; Online Mendelian Inheritance in Man (OMIM), an NIH site authored and edited by Johns Hopkins University, with information on specific genetic diseases; and

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