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Rare Disorders

Categories
Aarskog Syndrome @
Aase Syndrome @
Abetalipoproteinemia @
Ablepharon-Macrostomia Syndrome @
Adie Syndrome @
Adrenoleukodystrophy @
Agnosia 
Aicardi Syndrome 
Alagille Syndrome @
Alström Syndrome 
Alternating Hemiplegia @
Apert Syndrome @
Arthrogryposis @
Ataxia @
Bardet-Biedl Syndrome @
Barth Syndrome 
Behcet's Syndrome @
Blastomycosis @
Botulism @
Celiac @
Cerebrocostomandibular Syndrome 
Charcot-Marie-Tooth Disease @
Cleidocranial Dysplasia 
Cockayne Syndrome @
Coffin Lowry Syndrome @
Cornelia De Lange Syndrome @
Corticobasal Degeneration @
Costello Syndrome @
Craniofrontonasal Dysplasia @
Crigler-Najjar Syndrome @
Cri du Chat Syndrome @
Cyclic Vomiting Syndrome @
Cystinosis 
Dandy Walker Syndrome @
Degos 
Dercum Disease @
DiGeorge Syndrome @
Dubowitz Syndrome @
Dystonia @
Ehlers-Danlos Syndrome @
Erythromelalgia 
Fabry's @
Familial Dysautonomia @
Fanconi Anemia @
Fibrodysplasia Ossificans Progressiva @
Floating-Harbor Syndrome @
Friedreich Ataxia @
Galactosemia @
Gaucher's @
Gerstmann Syndrome @
Glutaricaciduria @
Guillain-Barre Syndrome @
Gustatory Sweating @
Hallervorden-Spatz Syndrome @
Hemihypertrophy @
Hemophilia @
Hereditary Angioedema @
Hidradenitis Suppurativa @
Homocystinuria @
Horner Syndrome @
Huntington's @
Hydrocephalus @
Incontinentia Pigmenti @
Isaacs Syndrome @
Jacobsen Syndrome 
Joubert Syndrome @
Kearns Sayre Syndrome @
Kernicterus @
Klippel-Feil Syndrome @
Kluver-Bucy Syndrome @
Laurence-Moon Syndrome @
Leigh's @
Lesch-Nyhan Syndrome @
Lissencephaly @
Lowe Syndrome @
Madelung's @
Mannosidosis @
Marfan Syndrome @
Mastocytosis @
Meige Syndrome @
Melorheostosis 
Mobius Syndrome @
Moyamoya 
Multiple Hereditary Exostoses @
Myotonic Dystrophy @
Nail Patella Syndrome @
Narcolepsy @
Neurofibromatosis @
Neuroleptic Malignant Syndrome @
Niemann-Pick @
Noonan Syndrome @
Olivopontocerebellar Atrophy @
Ollier Disease 
Opitz Syndrome @
Osteogenesis Imperfecta @
Pallister-Hall Syndrome @
Pallister Killian Mosaic Syndrome @
Pemphigoid 
Pemphigus 
Phenylketonuria 
Pick Disease of the Brain @
POEMS Syndrome @
Pierre Robin Syndrome 
Porencephaly @
Porphyrias @
Prader-Willi Syndrome @
Progeria 
Propionic Acidemia @
Proteus Syndrome @
Prune Belly Syndrome @
Pseudoxanthoma Elasticum @
Refsum's @
Retinoblastoma @
Rett's Syndrome @
Rickets @
Robinow Syndrome @
Rubinstein-Taybi Syndrome 
Russell Silver Syndrome @
Sanfilippo Syndrome @
Schizencephaly @
Shwachman Syndrome @
Smith-Magenis Syndrome @
Smith Lemli Opitz Syndrome @
Spina Bifida @
Stickler's Syndrome @
Stiff-Person Syndrome @
Sturge-Weber Syndrome @
Subacute Sclerosing Panencephalitis @
Tangier @
Tay-Sachs @
Thalassemia @
Thrombocytopenia Absent Radius Syndrome @
Tourette Syndrome @
Treacher Collins Syndrome @
Trichothiodystrophy @
Tuberous Sclerosis @
Turner Syndrome @
Tyrosinemia 
Usher Syndrome @
VATER Syndrome 
Velo-Cardio-Facial Syndrome @
Waardenburg Syndrome @
WAGR Syndrome @
Weaver Syndrome @
Wegener's Granulomatosis 
Williams Syndrome @
Wilson's Disease @
Xeroderma Pigmentosum @
Zellweger Syndrome @
Zollinger-Ellison Syndrome @

Websites
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

A community providing more than a 1000 different links to support groups for the people of all nations.
http://www.raredisorders.com

Information about growth-related disorders through education, research, and advocacy. Member driven organization.
http://www.hgfound.org/

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

Resource for parents and patients suffering from Neonatal Onset Multi-inflammatory Disease Chronic, or Infantile, Neurologic, Cutaneous and Articular syndrome. Site maintained by patients, parents and friends for their counterparts worldwide. Email support group at eGroups.
http://pweb.netcom.com/~jkbarton/nomid/Html/nomid_home_page.htm

Information on structure, biosynthesis and pathophysiology of BH4 and tetrahydrobiopterin deficiency.
http://www.bh4.org

For those seeking support and information concerning the rare bone diseases: fibrous dysplasia, McCune Albright Syndrome and Cherubism.
http://members.cox.net/fdsupport/index.html

An article and case study of this rare disease. Includes links.
http://digilander.libero.it/camdic/KINDLER.html

Provides general information and a personal account, including pictures and X-rays. Also offers patient contact and an email discussion group.
http://www.gorhams.dk

The least common, but most severe, late complication of histoplasmosis. Educational and research information. Includes interviews, patient stories, and a community forum.
http://www.fibrosingmediastinitis.com

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/

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/