Health - Conditions and Diseases - Rare Disorders - Directory Search CNE Fly

Aarskog Syndrome@ (6)
Aase Syndrome@ (3)
Abetalipoproteinemia@ (3)
Ablepharon-Macrostomia Syndrome@ (4)
Adie Syndrome@ (4)
Adrenoleukodystrophy@ (8)
Agnosia (2)
Aicardi Syndrome (8)
Alagille Syndrome@ (7)
Alstrom Syndrome (5)
Alternating Hemiplegia@ (3)
Apert Syndrome@ (9)
Arthrogryposis@ (99)
Ataxia@ (12)
Bardet-Biedl Syndrome@ (6)
Barth Syndrome (2)
Behcet's Syndrome@ (5)
Blastomycosis@ (4)
Botulism@ (4)
Celiac@ (36)
Cerebrocostomandibular Syndrome (2)
Charcot-Marie-Tooth Disease@ (6)
Cleidocranial Dysplasia (4)
Cockayne Syndrome@ (3)
Coffin Lowry Syndrome@ (5)
Cornelia De Lange Syndrome@ (4)
Corticobasal Degeneration@ (3)
Costello Syndrome@ (2)
Craniofrontonasal Dysplasia@ (3)
Cri du Chat Syndrome@ (5)
Crigler-Najjar Syndrome@ (5)
Cyclic Vomiting Syndrome@ (9)
Cystinosis (3)
Dandy Walker Syndrome@ (4)
Degos (4)
Dercum Disease@ (29)
DiGeorge Syndrome@ (4)
Dubowitz Syndrome@ (4)
Dystonia@ (33)
Ehlers-Danlos Syndrome@ (12)
Erythromelalgia (4)
Fabry's@ (9)
Familial Dysautonomia@ (8)
Fanconi Anemia@ (18)
Floating-Harbor Syndrome@ (4)
Friedreich Ataxia@ (4)
Galactosemia@ (3)
Gaucher's@ (15)
Gerstmann Syndrome@ (3)
Glutaricaciduria@ (4)
Guillain-Barre Syndrome@ (13)
Gustatory Sweating@ (4)
Hallervorden-Spatz Syndrome@ (5)
Hemihypertrophy@ (3)
Hemophilia@ (26)
Hereditary Angioedema@ (5)
Hidradenitis Suppurativa@ (11)
Homocystinuria@ (4)
Horner Syndrome@ (5)
Huntington's@ (28)
Hydrocephalus@ (55)
Incontinentia Pigmenti@ (7)
Isaacs Syndrome@ (3)
Jacobsen Syndrome (3)
Joubert Syndrome@ (5)
Kearns Sayre Syndrome@ (2)
Kernicterus@ (3)
Klippel-Feil Syndrome@ (4)
Kluver-Bucy Syndrome@ (4)
Laurence-Moon Syndrome@ (4)
Leigh's@ (4)
Lesch-Nyhan Syndrome@ (3)
Lissencephaly@ (5)
Lowe Syndrome@ (4)

Madelung's@ (12)
Mannosidosis@ (2)
Marfan Syndrome@ (38)
Mastocytosis@ (341)
Meige Syndrome@ (4)
Melorheostosis (2)
Mobius Syndrome@ (5)
Moyamoya (6)
Multiple Hereditary Exostoses@ (7)
Myotonic Dystrophy@ (3)
Nail Patella Syndrome@ (7)
Narcolepsy@ (27)
Neurofibromatosis@ (16)
Neuroleptic Malignant Syndrome@ (6)
Niemann-Pick@ (4)
Noonan Syndrome@ (9)
Olivopontocerebellar Atrophy@ (3)
Ollier Disease (4)
Opitz Syndrome@ (6)
Osteogenesis Imperfecta@ (5)
Pallister Killian Mosaic Syndrome@ (3)
Pallister-Hall Syndrome@ (4)
Pemphigoid (1)
Pemphigus (5)
Phenylketonuria (6)
Pick Disease of the Brain@ (3)
Pierre Robin Syndrome (4)
POEMS Syndrome@ (2)
Porencephaly@ (4)
Porphyrias@ (17)
Prader-Willi Syndrome@ (10)
Progeria (10)
Propionic Acidemia@ (4)
Proteus Syndrome@ (3)
Prune Belly Syndrome@ (3)
Pseudoxanthoma Elasticum@ (4)
Refsum's@ (5)
Retinoblastoma@ (32)
Rett's Syndrome@ (23)
Rickets@ (1)
Robinow Syndrome@ (4)
Rubinstein-Taybi Syndrome (5)
Russell Silver Syndrome@ (2)
Sanfilippo Syndrome@ (6)
Schizencephaly@ (4)
Shwachman Syndrome@ (7)
Smith Lemli Opitz Syndrome@ (3)
Smith-Magenis Syndrome@ (4)
Spina Bifida@ (46)
Stickler's Syndrome@ (4)
Stiff-Person Syndrome@ (3)
Sturge-Weber Syndrome@ (4)
Subacute Sclerosing Panencephalitis@ (5)
Tangier@ (2)
Tay-Sachs@ (4)
Thalassemia@ (20)
Thrombocytopenia Absent Radius Syndrome@ (4)
Tourette Syndrome@ (77)
Treacher Collins Syndrome@ (6)
Tuberous Sclerosis@ (17)
Turner Syndrome@ (12)
Tyrosinemia (6)
Usher Syndrome@ (2)
VATER Syndrome (6)
Velo-Cardio-Facial Syndrome@ (5)
Waardenburg Syndrome@ (4)
WAGR Syndrome@ (4)
Weaver Syndrome@ (3)
Wegener's Granulomatosis (12)
Williams Syndrome@ (10)
Wilson's Disease@ (12)
Xeroderma Pigmentosum@ (6)
Zellweger Syndrome@ (5)
Zollinger-Ellison Syndrome@ (3)

See also:

Health: Conditions and Diseases: Genetic Disorders (634)

This category in other languages:

French (9) Italian (27) Japanese (14)

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 informtion 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.

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