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         Ablepharon-macrostomia Syndrome:     more detail

81. Lukol Directory - Health Conditions And Diseases Rare Disorders
Aarskog syndrome (6). Aase syndrome (3). Abetalipoproteinemia (3). AblepharonMacrostomiasyndrome (4). Adie syndrome (4). Adrenoleukodystrophy (8). Agnosia (2).
http://www.lukol.com/Top/Health/Conditions_and_Diseases/Rare_Disorders/

Lukol Directory -
Health Conditions and Diseases Rare Disorders ... National Organization for Rare Disorders, Inc.
Information about NORD, its programs, special events and the variety of services offered. Includes a rare disease, organization and orphan drug database. Diseases are listed alphabetically for easy searching.
http://www.rarediseases.org/
Contact a Family

Information about this organization as well as the CaF directory of specific conditions and rare disorders. Also details about the Rare Disorders Alliance - UK.
http://www.cafamily.org.uk
Human Growth Foundation

Information about growth-related disorders through education, research, and advocacy. Member driven organization.
http://www.hgfound.org/
Office of Rare Diseases
Information on more than 6000 rare diseases, including current research, publications from scientific and medical journals, completed research, ongoing studies, and patient support groups. http://rarediseases.info.nih.gov/ord/ Cherubs A non-profit support group for the families and medical care providers of children and adults born with Congenital Diaphragmatic Hernia. http://www.cherubs-cdh.org

82. Radiology, University Of Rochester Medical Center
article 1. Zygomatic arch absence has also been described in a single case asa new feature of the socalled “ablepharon macrostomia syndrome” 2.
http://www.urmc.rochester.edu/smd/Rad/neurocases/Neurocase14.htm

Radiology Home
Department Overview Faculty Residency ... Next Case
Neuroradiology Case of the Week
Case 14
Lawrence Buadu, MD, PhD and P-L Westesson, MD, PhD, DDS Clinical Presentation Two siblings presented with mild congenital facial anomalies. They appear to have a small mid-face and relatively flat zygoma regions. One of the siblings has a slightly small mandible but was otherwise normal. Radiographic Findings: Three-dimensional CT scans demonstrates bilateral absence of the zygomatic arch in both siblings ( ). The muscles of mastications were present without anomalies or hyperplasia. In one of the siblings ( Fig. 3 ) the mandible was slightly small but the mandibular condyles were developed on both sides in both siblings. Figure 1A Figure 1B Lateral views of three-dimensional CT scan of the head show absence of zygomatic arch bilaterally (arrows) in sibling #1. Figure 2A Figure 2B Lateral views of three-dimensional CT scan of head show absence of zygomatic arch bilaterally (arrows) in sibling #2.

83. Health Info
Pain, Age 12 and Older Abdominal Tap Abdominal Ultrasound Abdominal XRay ABGs (ArterialBlood Gases) Ablepharon Macrostomia syndrome Abnormal Vaginal Bleeding
http://www.pamf.org/health/healthinfo/index.cfm?section=healthinfo&page=cat_deta

84. BJO Abstracts Price Et Al. 75 (5) 317
Download to Citation Manager. British Journal of Ophthalmology, 1991,Vol 75, 317319. ORIGINAL ARTICLES. Ablepharon macrostomia syndrome.
http://www.bjophthalmol.com/cgi/content/abstract/75/5/317

85. A Listing Of Disorders
A. 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

86. Leri Weill Search Results (January 2000)
H I J K L M N O P Q R S T U V W X Y Z 5 5 Oxoprolinuria A Aarskog syndrome Aasesyndrome Ablepharon Macrostomia syndrome Acanthocheilonemiasis Acanthocytosis
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

87. Links: - Alabama Council For Developmental Disabilities
disorders. Includes nutritional links to disorders such as Down syndrome,cerebral palsy and homocystinuria and cystic fibrosis.
http://www.acdd.org/Links/conditions/Genetic_Disorders.htm
Skip to content You are here: Home Links Conditions Genetic Disorders
Genetic Disorders
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  • Dr. Greene's HouseCalls - A discussion of medical information on trisomy, trisomy 13, genetics, and his own personal family experience with this rare disease. 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. 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. 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. Primary Ciliary Dyskinesia - Information on a rare congenital disease.

88. Library Page Numbers 16 To 22
syndrome, J. Medical Genetics, 1996 Ablepharon macrostomia syndrome with associatedcutis laxa possible localization to 18q, Hum Genet 1996 Abnormalities of
http://www.chromodisorder.org/sytrix/card_list.php3?dbid=81&id=258

89. DrRecommend: Genetic Disorder
AblepharonMacrostomia_syndrome 1.Ablepharon Macrostomia syndrome Apersonal site with information and links about this disease. URL
http://www.drrecommend.com/lst/Health/Conditions_and_Diseases/Genetic_Disorders/
sitetype='health'; site='drrecommend.com'; barcategory='genetic disorder'; barpath="http://drrecommend.com/lst/Health/Conditions_and_Diseases/Genetic_Disorders/Ablepharon-Macrostomia_Syndrome/"; Specials: American Express no-fee card pays back upto 5% cash. Vitamin Shoppe up to 75% off retail.
Additional Resources
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REFERENCE:
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subject reports.
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90. Conditions And Diseases
G(0). Genetic Disorders(379) Glutaricaciduria, Craniofrontonasal Dysplasia, AblepharonMacrostomiasyndrome, Aase syndrome, Aarskog syndrome, Fragile X syndrome
http://www.jaspergifts.com/Health/Conditions_and_Diseases/
Conditions and Diseases
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Links: Health: Conditions and Diseases
Home Health : Conditions and Diseases University Hospital and Medical Center
Provides Tamarac and Broward County, Fla., with medical and professional health-care services. Search the database on diseases, conditions, and general health inquiries.
Musculoskeletal Diseases - WYETH

Learn about synvisc, iodine, robaxin, and other products developed to treat this degenerative condition that weakens bones and muscles.
Innovative Health Natural Healing and Nourishment Products

Find natural health products and information to aid with diabetes, liver disease, heart disease, weight loss, cancer, and other conditions. Cincinnati Hyperbarics Buy Diseases Books At Amazon.com and Save! Would you like to save on Diseases Books at Amazon and other stores? Links to compare prices at BookSellersNow.com! Our site continually proves that online shopping can be fun! WellnessBooks.com - Books For Getting Well

91. Health Library
Abdominal Pain, Age 12 and Older. Ablepharon Macrostomia syndrome. AbnormalPap Test. Abnormal Uterine BleedingDysfunctional Uterine Bleeding.
http://12.31.13.198/Library/HealthGuide/IllnessConditions/_SearchResults.asp?let

92. NORD Rare Disease - Medical Transcription At Medword
5 5 Oxoprolinuria A Aarskog syndrome Aase syndrome Ablepharon Macrostomia syndromeAcanthocheilonemiasis Acanthocytosis Acanthosis Nigricans Achalasia Achard
http://www.medword.com/rardisA.html
Medword Resources
A
This listing of rare diseases is provided for spelling reference. Clicking on the link will generate a new window and take you to NORD's home page, where you may search for an abstract of the disease or order a full text report of the disease. Please read the notice at the bottom of this page before using this list.
A
B C D ... Z Find on this page
5 Oxoprolinuria

A
Aarskog Syndrome

Aase Syndrome

Ablepharon Macrostomia Syndrome

Acanthocheilonemiasis
...
Autism

Please Click HERE for a comma-delimited list of the rare diseases that you may add to your speller. List made available by express written permission of NORD - National Organization for Rare Disorders, Inc. Important:
Please use the above list at your own risk. While we make every effort to ensure accuracy, we cannot be held responsible for errors in spelling or capitalization, or any circumstance that may result because of said error. In using the above list you also agree to never hold ANSO Consulting Inc. or Medword Medical Transcription responsible for any errors should they exist. Please Note: Medword Medical Transcription About Medword Contact Medword Customer Care FAQs ... Prevent ID Theft Medword eStore Ad Authentic WAVpedal Foot Pedal WAVpedal allows PC playback of most all digital voice recorder formats.

93. Rare Disorders From Linkspider UK Health Directory
Resource for parents and patients suffering from Neonatal Onset MultiinflammatoryDisease Chronic, or Infantile, Neurologic, Cutaneous and Articular syndrome.
http://linkspider.co.uk/Health/ConditionsandDiseases/RareDisorders/
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94. Genetic Disorders From Linkspider UK Health Directory
disorders. Includes nutritional links to disorders such as Down syndrome,cerebral palsy, homocystinuria, and cystic fibrosis. Washington
http://linkspider.co.uk/Health/ConditionsandDiseases/GeneticDisorders/
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95. Redirect

http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?200110

96. Currículo Do Sistema De Currículos Lattes (Victor Evangelista De Faria Ferraz)
Translate this page 3, FERRAZ, VEF, MELO, DG, HANSING, SE, CRUZ, AAV, PINA NETO, JM Ablepharon-Macrostomiasyndrome first report of familial ocurrence.
http://genos.cnpq.br:12010/dwlattes/owa/prc_imp_cv_int?f_cod=K4792597P5

97. SearchBug Directory: Health: Conditions_and_Diseases: Genetic_Disorders: Ablepha
Search the Web Web. Open Directory. Search AblepharonMacrostomiaSyndrome,
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Web Pages - ranked by popularity NORD: Ablepharon Macrostomia Syndrome http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Ablepharon%20Macrostomia%20Syndrome A look at the alternate name, a general discussion and further resources. Human Genome Mapping Project http://www.hgmp.mrc.ac.uk/dhmhd-bin/hum-look-up?1084 A list of features for Ablepharon-Macrostomia Syndrome. Ablepharon Macrostomia Syndrome http://www.angelfire.com/ga2/AMS/ A personal site with information and links about this disease. OMIM: National Center for Biotechnology Information http://www3.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?200110 A clinical synopsis for Ablepharon-Macrostomia syndrome.
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