Directory: Health: Conditions and Diseases: Rare Disorders (121)

Aarskog Syndrome@ (4)
Aase Syndrome@ (2)
Abetalipoproteinemia@ (1)
Ablepharon-Macrostomia Syndrome@ (3)
Adie Syndrome@ (4)
Adrenoleukodystrophy@ (5)
Agnosia (more...)
Aicardi Syndrome (more...)
Alagille Syndrome@ (8)
Alström Syndrome (more...)
Alternating Hemiplegia@ (3)
Apert Syndrome@ (10)
Arthrogryposis@ (69)
Ataxia@ (8)
Bardet-Biedl Syndrome@ (4)
Barth Syndrome (more...)
Behcet's Syndrome@ (9)
Blastomycosis@ (5)
Botulism@ (17)
Celiac@ (46)
Cerebrocostomandibular Syndrome (more...)
Charcot-Marie-Tooth Disease@ (7)
Cleidocranial Dysplasia (more...)
Cockayne Syndrome@ (3)
Coffin Lowry Syndrome@ (4)
Cornelia De Lange Syndrome@ (3)
Corticobasal Degeneration@ (3)
Costello Syndrome@ (2)
Craniofrontonasal Dysplasia@ (3)
Cri du Chat Syndrome@ (5)
Crigler-Najjar Syndrome@ (7)
Cyclic Vomiting Syndrome@ (10)
Cystinosis (more...)
Dandy Walker Syndrome@ (3)
Degos (more...)
Dercum Disease@ (14)
DiGeorge Syndrome@ (4)
Dubowitz Syndrome@ (3)
Dystonia@ (24)
Ehlers-Danlos Syndrome@ (29)
Erythromelalgia (more...)
Fabry's@ (9)
Familial Dysautonomia@ (9)
Fanconi Anemia@ (15)
Fibrodysplasia Ossificans Progressiva@ (3)
Floating-Harbor Syndrome@ (4)
Friedreich Ataxia@ (13)
Galactosemia@ (6)
Gaucher's@ (11)
Gerstmann Syndrome@ (3)
Glutaricaciduria@ (3)
Guillain-Barre Syndrome@ (11)
Gustatory Sweating@ (2)
Hallervorden-Spatz Syndrome@ (4)
Hemihypertrophy@ (3)
Hemophilia@ (30)
Hereditary Angioedema@ (6)
Hidradenitis Suppurativa@ (13)
Homocystinuria@ (2)
Horner Syndrome@ (4)
Huntington's@ (27)
Hydrocephalus@ (42)
Idiopathic Pulmonary Hemosiderosis@ (4)
Incontinentia Pigmenti@ (7)
Isaacs Syndrome@ (3)
Jacobsen Syndrome (more...)
Joubert Syndrome@ (7)
Kearns Sayre Syndrome@ (2)
Kernicterus@ (3)
Klippel-Feil Syndrome@ (7)
Kluver-Bucy Syndrome@ (3)
Laurence-Moon Syndrome@ (2)
Leigh's@ (4)
Lesch-Nyhan Syndrome@ (1)
Lissencephaly@ (5)
Lowe Syndrome@ (2)

Madelung's@ (8)
Mannosidosis@ (2)
Marfan Syndrome@ (27)
Mastocytosis@ (383)
Meige Syndrome@ (3)
Melorheostosis (more...)
Mobius Syndrome@ (5)
Moyamoya (more...)
Multiple Hereditary Exostoses@ (7)
Myotonic Dystrophy@ (4)
Nail Patella Syndrome@ (5)
Narcolepsy@ (20)
Neurofibromatosis@ (17)
Neuroleptic Malignant Syndrome@ (5)
Niemann-Pick@ (4)
Noonan Syndrome@ (7)
Olivopontocerebellar Atrophy@ (3)
Ollier Disease (more...)
Opitz Syndrome@ (6)
Osteogenesis Imperfecta@ (13)
POEMS Syndrome@ (2)
Pallister Killian Mosaic Syndrome@ (1)
Pallister-Hall Syndrome@ (3)
Pemphigoid (more...)
Pemphigus (more...)
Phenylketonuria (more...)
Pick Disease of the Brain@ (4)
Pierre Robin Syndrome (more...)
Porencephaly@ (4)
Porphyrias@ (14)
Prader-Willi Syndrome@ (8)
Progeria (more...)
Propionic Acidemia@ (5)
Proteus Syndrome@ (5)
Prune Belly Syndrome@ (2)
Pseudoxanthoma Elasticum@ (5)
Refsum's@ (3)
Retinoblastoma@ (30)
Rett's Syndrome@ (20)
Rickets@ (11)
Robinow Syndrome@ (4)
Rubinstein-Taybi Syndrome (more...)
Russell Silver Syndrome@ (2)
Sanfilippo Syndrome@ (7)
Schizencephaly@ (2)
Shwachman Syndrome@ (7)
Smith Lemli Opitz Syndrome@ (3)
Smith-Magenis Syndrome@ (3)
Spina Bifida@ (35)
Stickler's Syndrome@ (4)
Stiff-Person Syndrome@ (4)
Sturge-Weber Syndrome@ (4)
Subacute Sclerosing Panencephalitis@ (2)
Tangier@ (2)
Tay-Sachs@ (3)
Thalassemia@ (22)
Thrombocytopenia Absent Radius Syndrome@ (3)
Tourette Syndrome@ (56)
Treacher Collins Syndrome@ (4)
Trichothiodystrophy@ (8)
Tuberous Sclerosis@ (12)
Turner Syndrome@ (10)
Tyrosinemia (more...)
Usher Syndrome@ (2)
VATER Syndrome (more...)
Velo-Cardio-Facial Syndrome@ (5)
WAGR Syndrome@ (4)
Waardenburg Syndrome@ (1)
Weaver Syndrome@ (1)
Wegener's Granulomatosis (more...)
Williams Syndrome@ (18)
Wilson's Disease@ (11)
Xeroderma Pigmentosum@ (6)
Zellweger Syndrome@ (7)
Zollinger-Ellison Syndrome@ (3)

See Also:

Health: Conditions and Diseases: Genetic Disorders

National Organization for Rare Disorders, Inc.

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

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

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.

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.

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

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

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

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.

Information Centre for Rare Diseases and Orphan Drugs - Offers an Internet portal. Includes news, forums, rare disease and orphan drug info and registration forms

European Organisation for Rare Diseases - Alliance of patient associations dedicated to improving the quality of life of all people living with rare diseases in Europe.

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