Monday, 2 September 2013

SYNDROMES



                                    SYNDROMES    

       (alfabetical list)

A B C D E F G H I
J K L M N O P Q
R S T U V W X Y Z

A

Aarskog syndrome

  • Aarskog-Scott syndrome-OMIM 305400
  • Aarskog syndrome-Online and Offline Support A
  • Aarskog syndrome-support groups-Kansas Univ.
  • AARSKOGS syndrome-PedBase
  • Aarskog Syndrome-Family Village Home
  • NORD - Aarskog Syndrome
  • Aarskog Syndrome - A.D.A.M. Encyclopedias
  • Aarskog syndrome-Support Groups

 

Aase syndrome


  • Aase syndrome - Pediatric Encyclopedia

  •  

    Acanthosis Nigricans 


  • Acanthosis Nigricans Maligna-DermIS Online Atlas
  • Acanthosis Nigricans Benigna-DermIS Online Atlas

  •  

    Achondrogenesis

    • Achondrogenesis - NORD

     

    Achondroplasia 

    • Achondroplasia
    • Achondroplasia-Baby Net
    • Achondroplasia (rev1998)
    • Achondroplasia-Photo-Medical Genetics
    • Achondroplasia - NORD
    • Slide Achondroplastic dwarfism
    • ACHONDROPLASIA-review - GeneClinics 1998
    • ACHONDROPLASIA - GeneClinics (rev1998)
    • Health Supervision for Children With Achondroplasia (RE9514) 

     

    Acrodermatitis Enteropathica 

    • Acrodermatitis enteropathica-DermIS Online Atlas  

     

    Acrodysostosis 

     

    Acromegaly 

    • Acromegaly-DermIS Online Atlas  

     

    Acromesomelic Dysplasia 

    • Acromesomelic Dysplasia - NORD (abstract)  

     

    Acromicric Dysplasia 

    • Acromicric Dysplasia - NORD  

     

    ADAM COMPLEX 

    • An Interesting Case of Adam Complex-case report

     

    Addison's Disease 

    • Addison's Disease-minireview
    • Addison's Disease-DermIS Online Atlas
    • Addison's disease - Pediatric Encyclopedia  

     

    Adiposogenital Dystrophy 

    • Froelich's Syndrome (Adiposogenital Dystrophy) - NORD  

     

    Adrenoleukodystrophy

    • Adrenoleukodystrophy - International Research Group
    • X-linked Adrenoleukodystrophy-review by Hugo W Moser-GeneClinics1999
    Russian Resources 
    • Адреномиелонейропатия - описание случая

     

    Aicardi Syndrome 

    • Aicardi syndrome-text-Nat.Inst.Health.Bethesda
    • Aicardi Syndrome - Pediatric Encyclopedia
    • The Aicardi Syndrome Foundation  

     

    Alagille Syndrome 

    • Alagille's Syndrome-The American Liver Foundation
    • The Alagille Syndrome Support Group of Australia
    • ALAGILLE SYNDROME SUPPORT GROUP OF AUSTRALIA
    • Alagille's Syndrome - Xanthomata
    • Alagille Syndrome - Family Village (URL's)
    • ALAGILLE SYNDROME - OMIM ENTRY 118450
    • Alagille Syndrome (American Liver Foundation) - fact sheets
    • Alagille Syndrome Families Online
    • Alagillee syndrome - Chromosome 20 (fact sheets)
    • Alagille's Syndrome - (Right elbow-Image) - Xanthomata
    • Alagille's Syndrome - elbow - Xanthomata
    • Alagille Syndrome - CliniWEB International (Search PubMed, URL's)
    • Alagille Syndrome-mininreview (Vanderbilt Medical Center)
    • International Symposium on Alagille Syndrome 1999
    • The Alagille Syndrome Alliance Worldwide Web Site
    • GeneClinics Alagille Syndrome
    • Alagille syndrome - Univ Kansas Med Center  

     

    Albinism 

    • Albinism & Hypopigmentation
    • Albinism - Genes Involved in Pigment Formation
    • Albinism Database (University of Minnesota)  

     

    Alexander Disease 

    • Alexander disease mini fact sheet  

     

    Alpha1-Antitripsin Deficiency

    •  
    • The Alpha One Foundation
    • Texas Alpha-1 Resource Support Group
    • Alphalink-Alpha1-Antitrypsin
    • Alphanet-antitripsin
    • Alphanet.-Alpha1-Antitrypsin
    • ASSIST-Alpha1-Antitrypsin
    • Alpha 1-antitrypsin deficiency related emphysema - fact sheet
    • Alpha1 Support System for Information Sharing and Thriving
    • Alpha1-Antitripsin - Richard Heering's Home Page
    • Alpha-1 antitrypsin deficiency - Pediatric Encyclopedia
    • Rob Muskett's Alpha1 Web Site - UK (Support Group)
    • Welcome to the Alpha1 National Association (US)
    • Alpha-1 Antitrypsin Deficiency - Liver Disease in Children  

     

    Alport Syndrome 

    • Alport syndrome
    • Alport syndrome - Pediatric Encyclopedia
    • Healthtouch - Alport Syndrome

     

    Alstrom Syndrome 

    • Alstrom Syndrome - Pediatric Encyclopedia  

     

    Alzheimer's disease 

    • Alzheimer's Disease on Internet
    • Alzheimer's Disease Research
    • Alzheimer's Disease Review-Online
    • Alzheimer's disease- on Lycos
    • Genline (Helix)-Alzheimer Disease (rev)
    • Alzheimer's Disease-Pathology image
    • Alzheimer's Disease-fact sheet
    • Alzheimer's dis.(art.BMJ 1998)
    • NIMH Alzheimer Disease Genetics Initiative
    • Alzheimer's Disease - Trust Publications
    • Alzheimer's disease-text-Nat.Inst.Health-Bethesda
    • Alzheimer Overview 1998 - GeneClinics
    • Alzheimers's Disease - review by Price et al., 1998
    • Molecular genetics of Alzheimer's disease-doctoral thesis by Seppo Helisalmi 1998
    • Early Identification of Alzheimer's Disease and Related Dementias
    • Early Alzheimer's Disease Patient and Family Guide
    • Recognition and Initial Assessment of Alzheimer's Disease and Related Dementias
    • Alzheimer's Disease - The Human Gene Map
    • Partners Program of Excellence in Alzheimer's and Other Neurodegenerative Diseases
    • Oregon Aging and Alzheimer's Center - Home Page
    • New study to explore possibility of delaying the onset of Alzheimer's Disease
    • Pharmacogenomic Studies of Alzheimer's Disease and Other Neurological Disorders-press release 1999
    • Alzheimer's Disease Internet Resources - GRECC
    • Alzheimer's Disease - MEDLINEplus
    • Alzheimer's disease - hystopathology slide
    • Welcome to the Alzheimer's Association
    • Alzheimer's Association NSW Home Page
    • Alzheimer's Society Home page  

     

    Amyloidosis 

    • Amyloidosis-DermIS Online Atlas  

     

    Angelman syndrome 

    • Angelman syndrome-Clini Web
    • Angelman Syndrome Information-best
    • Angelman syndrome mini fact sheet
    • Angelman Syndrome-Angels & Orchids
    • Angelman syndrome-Case-December 97
    • Angelman Syndrome Foundation (USA) Home Page
    • Angeleman Syndrome - review - GeneClinics 1998

     

    Angioedema Hereditary 

    • Angioedema Hereditary - Pediatric Encyclopedia  

    Apert Syndrome 

    • Apert syndrome-Teeter's Page
    • Apert syndrome - Pediatric Encyclopedia
    • Apert Network
    • Swedish Apert Syndrome Information-To live with Aperts syndrome as a child and an adult
    • Teeter's Page - Apert syndrome - Support group -foto
    • Apert Syndrome - Teeter's Page  

     

    Arthrogryposis Multiplex Congenita 

     

    Asperger Syndrome 

     

    Ataxia-Teleangiectasia 

     

    B

    Baller-Gerold Syndrome 

     

    Bannayan-Riley-Ruvalcaba Syndrome 

     

    Basal Cell Nevus Syndrome 

    Batten Disease 

     

    Beckwith-Wiedemann 

     

    Behcet Disease 

     

    Blepharophimosis Syndrome 

     

    Blount Diseases 

     

    Blue Rubber Bleb Nevus s-me 

     

    Boerhaave's Syndrome 

     

    Branchiootorenal Syndrome 


  • GeneClinics - Branchiootorenal Syndrome

  •  

    Branchio-Oto-Renal Syndrome 

     

    Byler Disease 


  • Byler disease - Children's Liver Alliance (abstracts)  

  •  

    C

    Canavan Disease 

     

    Cardio-Facio-Cutaneus Syndrome 

     

    Carney Syndrome 

     

    Cerebrotendinous Xanthomatosis 

     

    Charcot-Marie-Tooth Disease 

     

    CHARGE association 

     

    Chondroectodermal Dysplasia 

     

    Cockayne Syndrome 

     

    Coffin-Siris Syndrome 

     

    Conradi-Hunermann Syndrome 

     

    Costello Syndrome 

     

    CREST Syndrome 

     

    Creutzfeldt - Jakob Disease 

     

    Crohn Disease 

     

    Crouzon Syndrome 

     

    Cushing Syndrome 

     

    D

    Dandy-Walker Syndrome 

     

    de Lange Syndrome 

     

    Diastrophic Dysplasia 

     

    Dubowitz Syndrome 

     

    Dychondrosteosis 

     

    Dyskeratosis Congenita 

     

    E

    Ear, Patella, Short Stature Syndrome 

     

    Ectodermal Dysplasia Hidrotic 

     

    EEC Syndrome 

     

    Ehlers-Danlos syndrome 

    Ellis-van Creveld Syndrome 

     

    Epidermal Hevus Syndrome 

     

    F

    Fabry Syndrome 

     

    Fairbank Disease 

     

    Fanconi anemia 

     

    Fetal Alcohol Syndrome 

     

    FG Syndrome 

     

    Fibrodysplasia Ossificans 

     

    Fibrosis Syndrome 

     

    Fibrous Dysplasia 

     

    Floating Harbor Syndrome 

     

    Fragile X syndrome 

    Freeman-Sheldon Syndrome 

    G

    GAPO Syndrome 

     

    Gardner Syndrome 

     

    Gauche Disease 

     

    Goldenhar Syndrome 

     

    Goodpasture's Syndrome 

     

    Guillain-Barre Syndrome 

     

    H

    Hallermann-Streiff Syndrome 

     

    Hallervorden-Spatz Disease 

     

    Hand-Schdlier-Christian Syndrome 

     

    Hemifacial Atrophy, Progressive 

     

    Hemihypertrophy 

     

    Hemochromatosis 

     

    Hermansky Pudlak Syndrome 

     

    Hirschsprung Disease 

     

    Huntington's disease 

     

    Hurler syndrome 

     

    Hutchinson-Gilford Progeria Syndrome 

     

    Hypohidrotic Ectodermal Dysplasia 

     

    Hypophosphatasia 

     

    I

    Incontinentia Pigmenti 

     

    Intestinal Pseudo-Obstruction Syndrome 

     

    J

    Jarcho-Levin Syndrome 

     

    Jeune Asphyxiating Thoracic Dystrophy 

    Johanson-Blizzard Syndrome 

     

    Joubert Syndrome 

     

    Juberg Marsidi Syndrome 

     

    K

    Kabuki Syndrome 

     

    Kawasaki Disease 

     

    Kennedy Disease 

     

    Kenny Caffe Syndrome 

     

    Klippel-Feil Syndrome 

     

    Klippel-Trenaunay Syndrome 

     

    Kniest Syndrome 

     

    Krabbe Disease 

     

    L

    Langer-Gideon syndrome 

     

    Laron Syndrome 

     

    Larson Syndrome 

     

    Launois-Bensaude Lipomatosis 

     

    Leighs Disease 

     

    LEOPARD Syndrome 

     

    Leprechaunism Syndrome 

     

    Leri Pleonosteosis 

     

    Lesch-Nyhan Syndrome 

     

    Li-Fraumeni Syndrome 

     

    Lowe Syndrome 

     

    Lymphadema-Distichiasis Syndrome 

     

    M

    Madelung's Disease 

     

    Maffucci Syndrome 

     

    Marchall-Smith Syndrome 

     

    Marfan syndrome 

     

    Maroteaux-Lamy Syndrome 

     

    McCune-Albright Syndrome 

     

    Megalocornea Mental Retardation Syndrome 

     

    Menkes Disease 

     

    Metachromatic Leukodystrophy 

     

    Microsomia Craniofacial 

     

    Miller-Dieker Syndrome 

     

    Mitral Valve Prolapse Syndrome 

     

    Moebius Syndrome 

     

    Mulibrey Nanism Syndrome 

     

    Multiple Endocrine Neoplasia 

     

    Myhre Syndrome 

    N

    Nail-Patella syndrome 

     

    Nelson Syndrome 

     

    Neurofibromatosis 

     

    Nijmegen Breakage Syndrome 

     

    Noonan syndrome 

     

    O

    Ollier Syndrome 

     

    Opitz Syndrome 

     

    Osgood-Schlatter Disease 

     

    Osler-Rendu Disease 

     

    Osteogenesis Imperfecta 

     

    Osteopetrosis 

     

    Oto-palatal-digital Syndrome 

    P

    Paget's disease 

     

    Pallister-Hall Syndrome 

     

    Pallister-Killian Syndrome 

    Parkinson Disease 

    Russian Resources 

     

    PEARSON SYNDROME 

     

    Pelizaeus-Merzbacher Disease 

    Pendred Syndrome 

     

    Perthes Disease 

     

    Peutz - Jeghers Syndrome 

     

    Pick's Disease 

     

    Pickwickian Syndrome 

     

    Poland Syndrome 

     

    Polycystic Kidney Disease 

     

    Polycystic Ovary Disease 

     

    Potter Syndrome 

     

    Prader-Willi syndrome 

     

    Proteus syndrome 

     

    Prunne Belly Syndrome 

    Pseudoachondroplasia 


  • Pseudoachondroplasia- Wheeless  

  •  

    Pseudoxantoma Elasticum 


  • National Association for Pseudoxanthoma Elasticum
  • Pseudoxanthoma Elasticum (PXE) - Home Page
  • Pseudoxanthoma Elasticum - DermIS Atlas  

  •  

    Q

    R

    Rendu-Osler Syndrome 

     

    Rett syndrome 

     

    Roberts Pseudothalidomide Syndrome 

     

    Robin Sequences 

     

    Robinow Syndrome 

     

    Romberg syndrome 

     

    Rothmund Thomson Syndrome 

     

    Rubinstein-Taybi Syndrome 

     

    Russell-Silver Syndrome 

     

    S

    Seckel Syndrome 

     

    Septo Optic Dysplasia 

     

    SHORT Syndrome 

     

    Shwachman syndrome 

     

    Shy-Drager Syndrome 

     

    Sjogren's Syndrome

    Smith-Lemli-Opitz Syndrome 

    Smith-Magenis syndrome

     

    Sotos Syndrome 

     

    Stickler syndrome 

     

    Stiffman Syndrome 

     

    Sturge-Weber Syndrome 

     

    T

    TAR Syndrome 

     

    Thanatophoric Dysplasis 

     

    Three M Syndrome 

     

    Tourette syndrome 

     

    Treacher Collins syndrome 

     

    Tricho-Rhino-Phalangeal Syndrome 

    Tuberous Sclerosis 

     

    U

    Usher Syndrome 


  • Usher's Syndrome - fact sheet, links
  • Usher syndrome
  • My Life with Usher Syndrome
  • Usher Syndrome - Clinical and Molecular Studies (Protocol)
  • Healthtouch - Usher Syndrome & Retinitis Pigmentosa Information & Referrals
  • Histopathologic Features of the Temporal Bone in Usher Syndrome Type I  

  •  

    V

    VACTERL association 

    VeloCardioFacial Syndrome


  • VeloCardioFacial syndrome-Paula's Cool Medical Links!
  • VeloCardioFacial s-me(WEB)
  • Velo-Cardio-Facial Syndrome - Articles List (WWW links)
  • Velocardiofacial Syndrome - Syndrome Clinic (Medscape)
  • Velo-Cardio-Facial Syndrome-HomePage
  • VeloCardioFacial S.-The 22q11 Group
  • Velo-Cardio-Facial Syndrome Information Page
  • Velo-Cardio-Facial Syndrome & DiGeorge Syndrome On-Line Discussion Groups
  • Neurobehavioral Phenotype of the 22q- syndrome-Am Psychiatr Ass, May 2000
  • Neurobehavioral Phenotype of the 22q- Syndrome  

  •  

    von Hippel Lindau disease 

     

    W

    Waardenburg syndrome 

     

    Weaver Syndrome 


  • WEAVER syndrome-PedBase
  • Weaver syndrome-OMIM ENTRY 277590
  • Weaver Syndrome - Family Village Home
  • David Weaver  

  •  

    Weismann Netter Stuhl Syndrome 


  • Weismann Netter Stuhl Syndrome - NORD  

  •  

    Werner Progeria 

     

    Willebrand Disease 

     

    Williams syndrome 

     

    Wilson Disease 

     

    X

    Xeroderma Pigmentosum 

     

    Y

    Z

    Zellweger Syndrome 


  • Zellweger syndrome mini fact sheet  
    •  

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