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

• 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

Acanthosis Nigricans 

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 

• Acrodysostosis - Pediatric Encyclopedia
• Acrodysostosis - NORD  

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 

• Arthrogryposis Multiplex Congenita - NORD

Asperger Syndrome 

• Asperger's disorder - Pediatric Encyclopedia
• Asperger Syndrome & Autism Resources  

Ataxia-Teleangiectasia 

• ATAXIA-TELANGIECTASIA PROJECT
• Ataxia-Telangiectasia Children's Project
• Ataxia - telangiectasia - Pediatric Encyclopedia
• ATAXIA-TELANGIECTASIA (A-T) CHILDREN'S PROJECT HOME PAGE
• Ataxia-telangiectasia mini fact sheet
• Ataxia-Telangiectasia Mutation Database-Virginia Mason Research Center
• Ataxia-Telangiectasia - factsheet (Handbook)
• Welcome to the Ataxia-Telangiectasia Mutation Database  

B

Baller-Gerold Syndrome 

• Immunodeficiency in a Patient With Baller-Gerold Syndrome-article

Bannayan-Riley-Ruvalcaba Syndrome 

• Bannayan-Riley-Ruvalcaba syndrome-literature  

Basal Cell Nevus Syndrome 

• Basal Cell Nevus Syndrome-DermIS Atlas
• Basal cell nevus syndrome - Pediatric Encyclopedia  

Batten Disease 

• Batten disease mini sheet  

Beckwith-Wiedemann 

• Screening of children-Beckwith-Wiedemann s.
• Beckwith Wiedemann S.-NORD
• Beckwith-Wiedemann s.-text
• Beckwith-Wiedemann s-me-text
• Beckwith-Wiedemann Support Network
• Beckwith-Wiedemann.PedBase
• Beckwith-Wiedmann support group
• Beckwith-Wiedeman-PubMed-reviews
• Beckwith-Wiedemann syndrome-Clini Web
• Beckwith-Wiedemann syndrome-fact sheet-HealthAnswers
• Beckwith-Wiedemann Syndrome-parents links
• Beckwith-Wiedemann syndrome-fact sheet
• Beckwith-Wiedemann s.- questions (education)
• Beckwith-Wiedemann syndrome - Pediatric Encyclopedia
• Beckwith-Wiedemann syndrome-minireview by Sandra R Silva
• GeneClinics Beckwith-Wiedemann Syndrome-review 2000
• The Beckwith-Wiedemann syndrome-Support networkrg-
• The Beckwith-Wiedemann Support Network
• The two-domain hypothesis in Beckwith-Wiedemann syndrome-letter 2000
• The two-domain hypothesis in WBS - Response
• BWS - imprinting in clusters revisited - art. by Maher and Reik 2000

Behcet Disease 

• Behcet's disease mini fact sheet
• Behcet Disease-review
• Behcet's Disease-DermIS Atlas  

Blepharophimosis Syndrome 

• Blepharophimosis syndrome-Home Page  

Blount Diseases 

• Blount's Disease-case-text  

Blue Rubber Bleb Nevus s-me 

• Blue Rubber Bleb Nevus Syndrome
• Blue Rubber Bleb Nevus-NORD  

Boerhaave's Syndrome 

• Boerhaave's Syndrome-Images in Clinical Medicine  

Branchiootorenal Syndrome 

Branchio-Oto-Renal Syndrome 

• Branchio-Oto-Renal (BOR) Syndrome
• Branchio-Oto-Renal Syndrome-review 1999-GeneClinics  

Byler Disease 

Canavan Disease 

• Canavan Disease mini sheet
• Canavan Disease mini information sheet
• Canavan Disease - Canavan Foundation  

Cardio-Facio-Cutaneus Syndrome 

• Cardio-Facio-Cutaneous Syndrome  

Carney Syndrome 

• Definition of the Genotype and Clinical Phenotype of Primary Pigmented Nodular Adrenocortical Disease and Carney Complex(Protocol)
• Mutations in the protein kinase A R1 regulatory subunit cause familial cardiac myxomas and Carney complex-article 2000  

Cerebrotendinous Xanthomatosis 

• Cerebrotendinous Xanthomatosis - Case-56-year-old male with ataxia  

Charcot-Marie-Tooth Disease 

• Charcot-Marie-Tooth Disease mini sheet
• Charcot-Marie-Tooth Disease Information
• Charcot Marie Tooth Neuropathies-Genline(rev)
• Charcot Marie Tooth(rev1998)
• Charcot-Marie-Tooth Neuropathy Overview - GeneClinics 1998  

CHARGE association 

• Charge Syndrome Foundation Official Homepage
• CHARGE syndrome - fact sheet, links - Kanzas Med.Center
• Minnow's CHARGE WebPage
• CHARGE Syndrome Foundation Home Page  

Chondroectodermal Dysplasia 

• Chondroectodermal Dysplasia-case-text  

Cockayne Syndrome 

• Cockayne's Syndrome-DermIS Atlas  

Coffin-Siris Syndrome 

• Coffin-Siris Syndrome - fact sheet, WWW links
• Coffin-Siris Syndrome- homepage
• Coffin-Siris Syndrome Photos  

Conradi-Hunermann Syndrome 

• Conradi-Hunermann Syndrome - NORD  

Costello Syndrome 

• Costello Syndrome Support Group (UK)
• Costello Syndrome - NORD
• Costello Syndrome-case report  

CREST Syndrome 

• Dermatology Online Atlas-CREST Syndrome  

Creutzfeldt - Jakob Disease 

• Creutzfeldt-Jakob disease-Pathology Image  

Crohn Disease 

• Crohn's Disease-DermIS Atlas
• Crohn's Disease Web Page - Info, illustrations, articles, message boards, links on inflammatory bowel disease
• Crohn's & Colitis Foundation of America
• Crohn's Diseas-Virtual Hospital
• Treatment of Crohn's Disease with Heparin-Jewish Hospital
• MEDLINEplus Crohn's Disease
• Crohn's disease (regional enteritis) - Gallery
• Crohn's Disease - MEDLINEplus
• Crohn's disease - hystopathology slide
• Anticipation in familial Crohn's disease - Gut 1998,42 (2) 170  

Crouzon Syndrome 

• Crouzon Support Network  

Cushing Syndrome 

• Cushing's Syndrome-text-Nat.Inst.Health-Bethesda
• Cushing's Syndrome - facts sheets-Nat.Ins.Child Health & Hum.Dev
• Cuching's syndrome-text  

D

Dandy-Walker Syndrome 

• Dandy-Walker syndrome mini fact sheet  

de Lange Syndrome 

• Cornelia de Lange syndrome Foundation
• Cornelia de Lange - Baylee's Personal Home Page
• Cornelia de Lange Syndrome (CdLS) Online Support Group
• Cornelia de Lange Syndrome (CdLS) Foundation, Inc.  

Diastrophic Dysplasia 

• DIASTRIPHIC DYSPLASIA-text
• Diastrophic Dysplasia-case-text  

Dubowitz Syndrome 

• Dubowitz syndrome-Support groups adress, WWW links
• Dubowitz Syndrome Information and Parent Support  

Dychondrosteosis 

• Dyschondrosteosis - NORD  

Dyskeratosis Congenita 

• Dyskeratosis cong.-nail-image
• Dermatology Online Atlas - Congenital Dyskeratosis
• Dyskeratosis Congenita - Heidelberg,Germany
• DYSKERATOSIS CONGENITA - PediBase
• Dyskeratosis Congenita - short review - London
• Dyskeratosis Congenita Symptoms and Self-Assessment Test
• Dyskeratosis Congenita Syndrome - Pediatric Database (PEDBASE)
• DYSKERATOSIS CONGENITA SYNDROME- facts sheet
• DYSKERATOSIS CONGENITA, X-LINKED - OMIM
• Dyskeratosis Congenita-article
• Dyskeratosis Congenita-Birth Disorder Information Directory
• NORD - Dyskeratosis Congenita
• The CaF Directory - DYSKERATOSIS CONGENITA  

E

Ear, Patella, Short Stature Syndrome 

• Ear, Patella, Short Stature Syndrome - NORD  

Ectodermal Dysplasia Hidrotic 

• Hidrotic Ectodermal Dysplasia - DermIS Atlas  

EEC Syndrome 

• Ectrodactyly-Ectodermal Dysplasia-Clefting (EEC) Syndrome...[Photo essay, Oct Arch Ophthalmol.1996)1997  

Ehlers-Danlos syndrome 

• Ehlers-Danlos Syndrome-NORD
• The Ehlers-Danlos National Foundation
• Ehlers-Danlos Support Group-UK HomePage
• The Canadian Ehlers-Danlos Syndrome web site
• Ehlers-Danlos Syndrome Forum - MedicineNet
• Slide Ehlers-Danlos syndrome-hyperextensible skin
• Ehlers-Danlos Syndrome, Vascular Type-review-GeneClinics1999
• Ehlers-Danlos Syndrome-fact sheet
• Ehlers-Danlos Syndrome - DermIS Atlas
• Slide Ehlers-Danlos syndromes-hyperextensible skin  

Ellis-van Creveld Syndrome 

• Ellis-van Creveld Syndrome - The Humah Gene Map  

Epidermal Hevus Syndrome 

• Epidermal Nevus Syndrome- DermIS Online Atlas  

F

Fabry Syndrome 

• Angiokeratoma Corporis Diffusum Fabry-DermIS Atlas
• Fabry's Disease mini fact sheet
• Fabry syndrome - DermIS Atlas
• International Center for Fabry Disease Home Page  

Fairbank Disease 

• Fairbank Disease - NORD  

Fanconi anemia 

• Fanconi Anemia-Hope for Henry
• Fanconi Anemia the Frohnmayer Family's Experience
• Fanconi Anemia Research Fund Home Page
• Fanconi Anemia A Handbook for Families
• Fanconi Anemia A Handbook for Families & Their Physicians  

Fetal Alcohol Syndrome 

• Fetal Alcohol Syndrome-video
• Fetal alcohol syndrome-fact sheet
• Fetal Alcohol Syndrome-Nat.Organisation
• Fetal Alcohol Syndrome (1996)-Textbook
• Fetal Alcohol Syndrome-Diagnosis, Epidemiology, Prevention, and Treatment (1996)
• Nofas Home Page - Fetal Alcohol Syndrome
• Fetal Alcohol Syndrome (1996), Table of Contents  

FG Syndrome 

• FG Syndrome Homepage
• FG SYNDROME-OMIM 305450  

Fibrodysplasia Ossificans 

• Fibrodysplasia Ossificans-IFOPA Web Site
• International Fibrodysplasia Ossificans Progressiva Association  

Fibrosis Syndrome 

• GENERAL FIBROSIS SYNDROME  

Fibrous Dysplasia 

• Polyostotic Fibrous Dysplasia-case-text  

Floating Harbor Syndrome 

• Floating Harbor Syndrome - NORD  

Fragile X syndrome 

• The National Fragile X Foundation
• FRAXA Research Foundation Home Page
• Fragile X Syndrome
• Fragile X Syndrome-text
• Fragile X syndrome (rev)
• Fragile X syndrome-text1
• Fragile X syndrome-fact sheet
• Fragile X syndrome (rev1998)
• FRAXA Research Foundation Home Page, Fragile X Syndrome Medical Research Grants and Fellowships
• Fragile X Syndrome - DNA Testing -fact sheet
• Fragile X syndrome-facts sheets-Nat.Ins.Child Health & Hum.Dev
• Fragile X syndrome-Genline (rev)
• Fragile X Syndrome - review - GeneClinics 1998
• FragileX Advocate
• Research Foundation Home Page, Fragile X Syndrome Medical Research Grants and Fellowships
• Health Supervision for Children With Fragile X Syndrome (RE9626)  

Freeman-Sheldon Syndrome 

• Freeman Sheldon Parent Support Group

G

GAPO Syndrome 

• GAPO Syndrome - [Photo essay, July Arch Ophthalmol. 1997)  

Gardner Syndrome 

• Gardner Syndrome - DermIS Atlas
• Gardner Syndrome - CliniWeb
• Gardner's Syndrome - Home Page
• SandDude on Gardner's Syndrome - Word List  

Gauche Disease 

• Gaucher Disease - GeneClinic-review2000
• Gaucher Disease - The Human Gene Map
• Gaucher Disease - National Institutes of Health Technology  

Goldenhar Syndrome 

• Goldenhar Syndrome - Family Village Home  

Goodpasture's Syndrome 

• Goodpasture's Syndrome-Clinical Abstracts (Medscape)  

Guillain-Barre Syndrome 

• Guillain-Barre Syndrome Fact Sheet  

H

Hallermann-Streiff Syndrome 

• Hallermann Streiff syndrome - NORD

Hallervorden-Spatz Disease 

• Hallervorden Spatz disease mini fact sheet  

Hand-Schdlier-Christian Syndrome 

• Hand-Schdlier-Christian Syndrome-slide,text  

Hemifacial Atrophy, Progressive 

• Hemiatrophia Faciei Progressiva - DermIS Atlas
• Romberg's disease-complications(abs1995)
• Rombergs Disorder-Neurology WebForum Page
• Romberg's Syndrome, anyone(art1995)
• Welcome to The Rombergs Connection  

Hemihypertrophy 

• Hemihypertrophy - Case report
• Hemihypertrophy - A search of the recent literature (Anne Foster)  

Hemochromatosis 

• Hemochromatosis Clinic-Univ.Pennsylvania
• Genetics of Hemochromatosis - review by Cullen et al.,1999
• American Hemochromatosis Society
• Hemochromatosis Gene and Other Report on Iron Metabolism
• Welcome to Iron Overload Diseases Association
• Hospital Practice Hemochromatosis  

Hermansky Pudlak Syndrome 

• Hermansky Pudlak Syndrome - Gene Mutations
• Therapeutic Clinical Trial of Oral Pirfenidone for the Pulmonary Fibrosis of Hermansky-Pudlak Syndrome(Protocol)  

Hirschsprung Disease 

• Congenital Aganglionic Megacolon-review
• Hirschsprung's disease-Pathology Image  

Huntington's disease 

• Jims Huntington Site
• Internet Resources for Huntington's Disease
• Huntington's disease
• Huntington's Disease Society of America-best
• Huntington's Disease Lighthouse
• Huntington's Disease Information-best
• Huntington Society of Canada Home Page
• German Hontington Help
• Facing Huntington's Disease
• Caring for People with Huntington's Disease
• DNA Testing for Huntington disease-fact sheet
• Huntingtons Disease - Hackersons HD.Com
• Huntington's disease - Hereditary Disease Foundation Home Page
• Huntington's disease-Pathology image
• Preimplantation Genetic Testing for Huntington Disease-article 1996
• Huntington's Disease Hope Through Research
• These are links relating directly to Huntington's Disease
• Huntington Disease - review - GeneClinics 1998
• JUVENILE-ONSET HUNTINGTON'S DISEASE - Neuropathology Case
• UK allows insurers to use gene test for Huntington's disease-News 2000  

Hurler syndrome 

• Coarctation of the Aorta in Hurler Syndrome-case report  

Hutchinson-Gilford Progeria Syndrome 

• Hutchinson-Gilford Progeria Syndrome
• Hutchinson-Gilford Progeria Syndrome (HGPS) Resource Page  

Hypohidrotic Ectodermal Dysplasia 

• Hypohidrotic Ectodermal Dysplasia Foundation & Related Disorders  

Hypophosphatasia 

• Hypophosphatasia Home Page  

I

Incontinentia Pigmenti 

• Incontinentia Pigmenti-fact sheet
• Incontinentia Pigmenti Achromians - DermIS Atlas
• incontinentia pigmenti mini fact sheet
• Incontinentia pigmenti syndrome - Pediatric Encyclopedia
• Incontinentia Pigmenti - DermIS Atlas
• National Incontinentia Pigmenti Foundation (NIPF)
• Incontinentia Pigmenti - Lower leg - 3 week old baby girl
• Incontinentia Pigmenti - Left medial thigh - 1 week old baby girl
• Incontinentia Pigmenti - Left upper leg - 1 week old baby girl
• Incontinentia Pigmenti - 1 week old baby girl