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
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
Extractions: 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.
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
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
Extractions: 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. 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. Children's Craniofacial Association
Extractions: 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. 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. Children's Craniofacial Association
Extractions: 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.
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
Extractions: 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
Extractions: 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 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
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/
Extractions: [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
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
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
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
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
Extractions: HOME B-K Mole Syndrome Bader Syndrome (Odontomatosis Aortae Oesophagus Stenosis, Odontoma Dysphagia Syndrome) BADS Syndrome Baelz Syndrome (Cheilitis Glandularis) Bagatelle Cassidy Syndrome (Macrocephaly Short Limbs Deafness) Bahemuka Brown Syndrome (Spastic Paraplegia Facial Cutaneous Lesions) Baker Vinters Syndrome (Hydrocephalus Craniosynostosis Bifid Nose) Ballard Syndrome (Brachydactyly, Combined B and E Types; Pitt Williams Brachydactyly) Baller Gerold Syndrome Ballinger Wallace Syndrome (Diabetes-Deafness Syndrome, Maternally Transmitted; Diabetes Mellitus, Noninsulin-Dependent/Type II, with Deafness) Bamboo Hair Syndrome Bamforth Syndrome (Hypothyroidism, Athyroidal, with Spiky Hair and Cleft Palate)
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
Extractions: 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.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) ..
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
Extractions: 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 Achalasia alacrimia syndrome Achalasia microcephaly Achalasia, familial esophageal
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
