DISEASE DIRECTORY

Tuesday, October 07, 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

  • Adam.com: An Overview - A definition of hereditary angioedema along with a look at the causes, incidence and risk factors.
  • Alpha1 Antitrypsine Deficiency - One man's perspective and journey with A1AD and a list of links and other resources from the internet.
  • Ashly's Skeletal Dysplasia - A mom describes her daughters disorder which is thought to be a metabolic disease similar to mucopolysachharisdoses. Also links to other related sites.
  • Daniels Neurofibromatosis page - A child living with neurofibromatosis and optic glioma with links.
  • GotGod?com - A family and memorial website dedicated to their son, Nathan Philip Batman, who passed away as a result of Trisomy 13, or Patau's Syndrome.
  • Joy's Page - Personal account about a daughter having Opitc Nerve Hypoplasia, Septo-Optic Dysplasia and had either a Congenital stroke or has schizencephaly.
  • Maddy's Page - The story of Madison Wigglesworth who has hurler syndrome. Includes photo album and links to informative sites.
  • Robert Kenneth Picklesimer - Born with Jeune Syndrome or Asphyxiating Thoracic Dystrophy in Louisville Kentucky. He underwent corrective surgery in San Antonio Texas, called the Titanium Rib Project.
  • Taryn's World: About Switches - Personal page for kids and parents about genetic disorders, especially mannosidosis.
  • Treacher Collins Syndrome - A Personal View - UK based website, containing information about the disorder, with helpful links and discussion forum.
  • XXXXY Syndrome - Information on this rare chromosomal abnormality.