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Sub-Categories in Rare Disorders

Aarskog Syndrome@ (5)
Aase Syndrome@ (2)
Abetalipoproteinemia@ (2)
Ablepharon-Macrostomia Syndrome@ (4)
Adie Syndrome@ (4)
Adrenoleukodystrophy@ (7)
Agnosia (2)
Aicardi Syndrome (7)
Alagille Syndrome@ (5)
Alström Syndrome (5)
Alternating Hemiplegia@ (3)
Apert Syndrome@ (9)
Arthrogryposis@ (83)
Ataxia@ (11)
Bardet-Biedl Syndrome@ (6)
Barth Syndrome (4)
Behcet's Syndrome@ (4)
Blastomycosis@ (7)
Botulism@ (19)
Celiac@ (41)
Cerebrocostomandibular Syndrome (2)
Charcot-Marie-Tooth Disease@ (6)
Cleidocranial Dysplasia (4)
Cockayne Syndrome@ (2)
Coffin Lowry Syndrome@ (4)
Cornelia De Lange Syndrome@ (2)
Corticobasal Degeneration@ (3)
Costello Syndrome@ (2)
Craniofrontonasal Dysplasia@ (3)
Cri du Chat Syndrome@ (5)
Crigler-Najjar Syndrome@ (3)
Cyclic Vomiting Syndrome@ (9)
Cystinosis (3)
Dandy Walker Syndrome@ (5)
Degos (5)
Dercum Disease@ (31)
DiGeorge Syndrome@ (4)
Dubowitz Syndrome@ (3)
Dystonia@ (31)
Ehlers-Danlos Syndrome@ (28)
Erythromelalgia (4)
Fabry's@ (9)
Familial Dysautonomia@ (8)
Fanconi Anemia@ (15)
Floating-Harbor Syndrome@ (4)
Friedreich Ataxia@ (4)
Galactosemia@ (4)
Gaucher's@ (14)
Gerstmann Syndrome@ (3)
Glutaricaciduria@ (3)
Guillain-Barre Syndrome@ (11)
Gustatory Sweating@ (2)
Hallervorden-Spatz Syndrome@ (5)
Hemihypertrophy@ (3)
Hemophilia@ (24)
Hereditary Angioedema@ (5)
Hidradenitis Suppurativa@ (10)
Homocystinuria@ (3)
Horner Syndrome@ (4)
Huntington's@ (28)
Hydrocephalus@ (49)
Incontinentia Pigmenti@ (6)
Isaacs Syndrome@ (3)
Jacobsen Syndrome (2)
Joubert Syndrome@ (6)
Kearns Sayre Syndrome@ (2)
Kernicterus@ (3)
Klippel-Feil Syndrome@ (4)
Kluver-Bucy Syndrome@ (3)
Laurence-Moon Syndrome@ (3)
Leigh's@ (4)
Lesch-Nyhan Syndrome@ (2)
Lissencephaly@ (5)
Lowe Syndrome@ (2)

Madelung's@ (13)
Mannosidosis@ (2)
Marfan Syndrome@ (35)
Mastocytosis@ (359)
Meige Syndrome@ (4)
Melorheostosis (2)
Mobius Syndrome@ (5)
Moyamoya (6)
Multiple Hereditary Exostoses@ (6)
Myotonic Dystrophy@ (3)
Nail Patella Syndrome@ (5)
Narcolepsy@ (26)
Neurofibromatosis@ (14)
Neuroleptic Malignant Syndrome@ (6)
Niemann-Pick@ (4)
Noonan Syndrome@ (8)
Olivopontocerebellar Atrophy@ (3)
Ollier Disease (2)
Opitz Syndrome@ (6)
Osteogenesis Imperfecta@ (13)
POEMS Syndrome@ (2)
Pallister Killian Mosaic Syndrome@ (2)
Pallister-Hall Syndrome@ (4)
Pemphigoid (1)
Pemphigus (5)
Phenylketonuria (6)
Pick Disease of the Brain@ (3)
Pierre Robin Syndrome (4)
Porencephaly@ (4)
Porphyrias@ (17)
Prader-Willi Syndrome@ (9)
Progeria (9)
Propionic Acidemia@ (3)
Proteus Syndrome@ (3)
Prune Belly Syndrome@ (2)
Pseudoxanthoma Elasticum@ (2)
Refsum's@ (3)
Retinoblastoma@ (27)
Rett's Syndrome@ (23)
Rickets@ (1)
Robinow Syndrome@ (4)
Rubinstein-Taybi Syndrome (4)
Russell Silver Syndrome@ (2)
Sanfilippo Syndrome@ (5)
Schizencephaly@ (3)
Shwachman Syndrome@ (6)
Smith Lemli Opitz Syndrome@ (3)
Smith-Magenis Syndrome@ (4)
Spina Bifida@ (41)
Stickler's Syndrome@ (4)
Stiff-Person Syndrome@ (3)
Sturge-Weber Syndrome@ (3)
Subacute Sclerosing Panencephalitis@ (4)
Tangier@ (2)
Tay-Sachs@ (4)
Thalassemia@ (19)
Thrombocytopenia Absent Radius Syndrome@ (3)
Tourette Syndrome@ (78)
Treacher Collins Syndrome@ (7)
Tuberous Sclerosis@ (15)
Turner Syndrome@ (11)
Tyrosinemia (3)
Usher Syndrome@ (2)
VATER Syndrome (5)
Velo-Cardio-Facial Syndrome@ (4)
WAGR Syndrome@ (4)
Waardenburg Syndrome@ (2)
Weaver Syndrome@ (2)
Wegener's Granulomatosis (10)
Williams Syndrome@ (9)
Wilson's Disease@ (11)
Xeroderma Pigmentosum@ (7)
Zellweger Syndrome@ (4)
Zollinger-Ellison Syndrome@ (3)

Web Sites in Category 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.

Cherubs - A non-profit support group for the families and medical care providers of children and adults born with Congenital Diaphragmatic Hernia.

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.

Fibrosing Mediastinitis - The least common, but most severe, late complication of histoplasmosis. Educational and research information. Includes interviews, patient stories, and a community forum.

Fibrous Dysplasia Support Online - For those seeking support and information concerning the rare bone diseases: fibrous dysplasia, McCune Albright Syndrome and Cherubism.

Human Growth Foundation - Information about growth-related disorders through education, research, and advocacy. Member driven organization.

International Rare Disease Support Network - A community providing more than a 1000 different links to support groups for the people of all nations.

Kindler Syndrome - An article and case study of this rare disease. Includes links.

Lymphangiomatosis and Gorham's Vanishing Bone Disease - Provides general information and a personal account, including pictures and X-rays. Also offers patient contact and an email discussion group.

Nomid /Cinca - 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.

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.

Tetrahydrobiopterin - Information on structure, biosynthesis and pathophysiology of BH4 and tetrahydrobiopterin deficiency.

Related Categories:

Health > Conditions and Diseases > Genetic Disorders

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