Bazsites.com Rare Disorders
Directory Topics
On the Web
- 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.
- NORD: Madelung's Disease - The National Organization for Rare Disorders briefly describes this rare disorder (also known as Multiple Symmetrical Lipomatosis, Benign Symmetric Lipomatosis or Lanois-Bensaude Syndrome) and lists further reference information.
- Unique Rare Chromosome Disorder Support Group - Support and information for families of children with 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.
- Major Aspects of Growth in Children (MAGIC) - An organization providing support and education regarding growth disorders in children and related adult disorders. Includes Growth Hormone Deficiency, Barth Syndrome, Congenital Adrenal Hyperplasia, Precocious Puberty, Russell-Silver Syndrome, Turner Syndrome, Thyroid Disorders Septo Optic Dysplasia, McCune-Albright Syndrome, and Rare Disorder/Hypophosphatasia.
- Canadian Organization for Rare Disorders - Education and support, providing information on thousands of rare disorders and advocating for funding and research. Offers news, membership and contact details.
- Progeria Family Circle - Overview of the rare disorder, symptoms, and experiences of children with Progeria and their families.
- NINDS - Barth Syndrome Information - Information sheet compiled by the National Institute of Neurological Disorders and Stroke.
- Readers Digest Health - Basic information and resources for Buerger's Disease from National Organization for Rare Disorders, Inc.
- NINDS: Agenesis of the Corpus Callosum - Information sheet by the National Institute of Neurological Disorders and Stroke, including symptoms, treatment and prognosis.
Wikipedia Articles
- Timothy syndrome - Timothy syndrome is a rare autosomal dominant disorder characterized by physiological and developmental defects, including heart QT-prolongation, heart arrhythmias, structural heart defects, syndactyly (webbing of fingers and toes) and autism spectrum disorders. There are two recognized types of Timothy syndrome, classical (type-1) and atypical (type-2).
- Laminopathy - Laminopathies are a group of rare genetic disorders caused by mutations in genes encoding proteins of the nuclear lamina. They are included in the more generic term nuclear envelopathies that was coined in 2000 for diseases associated with defects of the nuclear envelope.
- David Weedon - ... dermatopathologist in Australia who is the author of a textbook on dermatopathology widely considered to be an encyclopedic reference of skin diseases titled "Skin Pathology." Published originally in 1997 and currently in its second edition, "Skin Pathology" is an extensively referenced work that combines information on classic and rare clinical presentations with the common histopathologic findings of those same disorders.
- Ring chromosome 20 syndrome - Ring chromosome 20, ring-shaped chromosome 20 or r(20) syndrome is a rare human chromosome abnormality where the two arms of chromosome 20 fuse to form a ring chromosome. The syndrome is associated with epileptic seizures, behaviour disorders and mental retardation.
- 49 XXXXY syndrome - 49 XXXXY Syndrome is an extremely rare sex chromosomal abnormality; as its name indicates, a person with the syndrome has one Y chromosome and four X chromosomes. As is common with aneuploidy disorders, 49 XXXXY syndrome is often accompanied by mental retardation.