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Genetic Catalog
SYNDROMES (alfabetical list)


Genetic Center
Filatov's Child Clinical Hospital © 2001-2004
Vladimir Solonichenko MD, Clinical Geneticist,©
E-mail:
04.26.2004

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

 

Aase syndrome

  • Aase syndrome - Pediatric Encyclopedia

    •  

    Acanthosis Nigricans 

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

    •  

    Achondrogenesis

     

    Achondroplasia 

     

    Acrodermatitis Enteropathica 

     

    Acrodysostosis 

     

    Acromegaly 

     

    Acromesomelic Dysplasia 

     

    Acromicric Dysplasia 

     

    ADAM COMPLEX 

     

    Addison's Disease 

     

    Adiposogenital Dystrophy 

     

    Adrenoleukodystrophy

    Russian Resources 

     

    Aicardi Syndrome 

     

    Alagille Syndrome 

     

    Albinism 

     

    Alexander Disease 

     

    Alpha1-Antitripsin Deficiency

     

    Alport Syndrome 

     

    Alstrom Syndrome 

     

    Alzheimer's disease 

     

    Amyloidosis 

     

    Angelman syndrome 

     

    Angioedema Hereditary 

    Apert Syndrome 

     

    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  
    • IBN.RU - Информационная Деловая Сеть Rambler's Top100 TopList Муковисцидоз





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