DISEASE DIRECTORY

Monday, October 06, 2008

Genetic Disorders

 Aarskog Syndrome
Aase Syndrome
Ablepharon-Macrostomia Syndrome
Alagille Syndrome
Alkaptonuria
Alpha-1 Antitrypsin Deficiency
Batten
Beckwith-Wiedemann Syndrome
Coffin Lowry Syndrome
Costello Syndrome
Cowden Syndrome
Craniofrontonasal Dysplasia
Crigler-Najjar Syndrome
Cystic Fibrosis
DiGeorge Syndrome
Down Syndrome
Dubowitz Syndrome
Ectodermal Dysplasia
Familial Hypercholesterolemia
Fatty Oxidation
Floating-Harbor Syndrome
Fragile X Syndrome
Glutaricaciduria
Hailey-Hailey Disease
Hemihypertrophy
Hemochromatosis
Hereditary Angioedema
Hereditary Spastic Paraplegia
Incontinentia Pigmenti
Joubert Syndrome
Klinefelter Syndrome
Laurence-Moon Syndrome
Lesch-Nyhan Syndrome
Lowe Syndrome
Machado-Joseph
Mannosidosis
McArdle's
Meckel-Gruber Syndrome
Mobius Syndrome
Nail Patella Syndrome
Noonan Syndrome
Opitz Syndrome
Organizations
Pallister-Hall Syndrome
Pallister Killian Mosaic Syndrome
Personal Pages
Popliteal Pterygium Syndrome
Prader-Willi Syndrome
Propionic Acidemia
Proteus Syndrome
Prune Belly Syndrome
Pseudoxanthoma Elasticum
Robinow Syndrome
Russell Silver Syndrome
Sanfilippo Syndrome
Schizencephaly
Shwachman Syndrome
Smith-Magenis Syndrome
Smith Lemli Opitz Syndrome
Soto's Syndrome
Sturge-Weber Syndrome
Thrombocytopenia Absent Radius Syndrome
Turner Syndrome
Urea Cycle
Usher Syndrome
Velo-Cardio-Facial Syndrome
Von Hippel-Lindau
Waardenburg Syndrome
Weaver Syndrome
Williams Syndrome
Xeroderma Pigmentosum
Zellweger Syndrome

  • GeneClinics: An Overview - In depth details about hereditary spastic paraplegia. Includes a summary, definition, categories, diagnosis, genetic counseling and resources.
  • Hereditary Spastic Paraplegia - HSP information sheet compiled by the National Institute of Neurological Disorders and Stroke.
  • Hereditary Spastic Paraplegia - In depth look at this disease by John K. Fink, M.D., including genetic analysis, clinical features and FAQs.
  • HSPinfo.org - Information about hereditary spastic paraplegia, and disability resources. Includes newsletters, news, announcements, research and support.
  • National Urea Cycle Disorders Foundation - Information about the organization as well as the disease. Family support, membership, newborn screening project and medical information.
  • The FSP Support Group - For people suffering from Familial Spastic Paraplegia. Includes a newsletter, discussion forum, links, and contact details.