Aicardi Syndrome
Aicardi Syndrome Foundation, Contact a Family: Aicardi Syndrome, Corpal, Medline Plus: Aicardi Syndrome, Megan, National Library of Medicine: Aicardi syndrome, NINDS: Agenesis of the Corpus Callosum, NINDS: Aicardi Syndrome
Alstr+Âm Syndrome
Alström Syndrome, Alström Syndrome of Canada, Alström Syndrome UK Support Group, NORD - Alström Syndrome, Smart Groups: Alström Families
Barth Syndrome
Barth Syndrome Foundation, Clinical Mass Spectrometry Laboratory, NINDS - Barth Syndrome Information, The Complete Barth Syndrome Homepage
Cerebrocostomandibular Syndrome
National Library of Medicine: cerebrocostomandibul, NORD - Cerebrocostomandibular Syndrome
Cleidocranial Dysplasia
A Natural History of Cleidocranial Dysplasia, MedicineNet.com: Cleidocranial Dysplasia, National Library of Medicine: Cleidocranial Dyspla
Degos
Degos Patients' Support Network, Doctor's Doctor: Degos Disease, eMedicine - Degos Disease :, NORD: Degos Disease
Erythromelalgia
Erythromelalgia (EM), NORD: Erythromelalgia, The Erythromelalgia Association, The Merck Manual: Erythromelalgia
Moyamoya
E-Medicine: Moyamoya Disease, Moyamoya Disease, Moyamoya Disease, Moyamoya Disease, NINDS: Moyamoya Disease, NORD: Moyamoya Disease, Pediatric Oncall
Pemphigus
International Pemphigus Foundation, Pemphigus, Pemphigus, Pemphigus Hub, Pemphigus Research, Pemphigus Vulgaris, The Pemphigus and Pemphigoid Society
Phenylketonuria
Children's PKU Network, Genes and Diseases: Phenylketonuria, Medline Plus: Phenylketonuria, National PKU News, Pediatric Oncall, Phenylketonuria, PKU-Info.org, Tuxes for Tia
Pierre Robin Syndrome
Chase's Story, Contact a Family: Pierre Robin Syndrome, NORD - Pierre Robin Syndrome, Pierre Robin Network
Progeria
Hutchinson-Gilford Progeria Syndrome (HGPS) Resour, NCBI: Genes and Diseases, NORD: Progeria, Hutchinson Gilford, NORD: Werner Syndrome, Online Mendelian Inheritance in Man - Progeria, Progeria Family Circle, Progeria Project Foundation, Progeria Research Foundation, Inc., University of Washington: Werner Syndrome
Rubinstein-Taybi Syndrome
Rubinstein Taybi Syndrome Support Group (UK), Rubinstein-Taybi Syndrome, The CaF Directory
VATER Syndrome
A Problem Shared, EA/TEF Family Support Connection, The Vater Connection, VATER Association, Zoe Lambert
Wegener's Granulomatosis
Living with Wegener's Granulomatosis, Merck Manual: Wegener's Granulomatosis, Virtual Hospital Curriculum: Wegener's Granul, Wegener's Granulomatosis, Wegener's Granulomatosis, Wegener's Granulomatosis Association, Wegener's Granulomatosis Info, Wegener's Granulomatosis Site, Wegener's Granulomatosis, NIAID Fact Sheet, WegenersNet
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.
Information Centre for Rare Diseases and Orphan Dr
Offers an Internet portal. Includes news, forums, rare disease and orphan drug info and registration forms
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
Provides general information and a personal account, including pictures and X-rays. Also offers patient contact and an email discussion group.
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.
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.