Genetic and Rare Diseases Information Center | GARD
Navigate information throughout the diagnostic journey. Discover resources, disease experts, or clinical studies for a rare disease. Important: GARD provides information about rare diseases for your general knowledge and is not a substitute for the advice of a health care provider.
Hypermobile Ehlers-Danlos syndrome | About the Disease | GARD
Hypermobile Ehlers-Danlos syndrome is an inherited connective tissue disorder that is caused by defects in a protein called collagen. It is generally considered the least severe form of Ehlers-Danlos syndrome (EDS) although significant complications can occur.
Contact Us | GARD - Genetic and Rare Diseases Information Center
We invite patients, family members, caregivers, and others seeking information about rare diseases to contact GARD by phone or through our contact form. Our Information Specialists provide personalized responses that are easy to understand, free of charge, and confidential.
Lamellar ichthyosis | About the Disease | GARD - Genetic and Rare ...
Lamellar ichthyosis is a rare genetic condition that affects the skin. Infants affected by Lamellar ichthyosis are generally born with a shiny, waxy layer of skin (called a collodian membrane) that is typically shed within the first two weeks of life.
Lipogranulomatosis | Getting a Diagnosis | GARD - Genetic and …
GARD uses data collected from Orphanet and Online Mendelian Inheritance in Man (OMIM) to interpret and provide information on rare diseases. This includes names, synonyms, genes, symptom frequency, population estimates and more.
Diseases | GARD
Explore GARD's list of rare diseases. Filter by category or search by disease name, acronym, or synonym. Rare diseases found on GARD should not be used as policy statements of NCATS or the NIH.
Cockayne syndrome | About the Disease | GARD - Genetic and …
Cockayne syndrome is a rare disease which causes short stature, premature aging (progeria), severe photosensitivity, and moderate to severe learning delay. This syndrome also includes failure to thrive, very small head (microcephaly), and impaired nervous system development.
Vascular Ehlers-Danlos syndrome | About the Disease | GARD
Vascular Ehlers-Danlos syndrome is an inherited connective tissue disorder that is caused by defects in a protein called collagen. It is generally considered the most severe form of Ehlers-Danlos syndrome (EDS).
Schinzel-Giedion syndrome | About the Disease | GARD - Genetic …
Schinzel Giedion syndrome (SGS) is a rare, severe condition that affects many parts of the body. Features of SGS include severe intellectual disability; a distinctive facial appearance; excessive hair growth (hypertrichosis); and various birth defects that may affect the skeletal system, genitourinary system; kidneys; and heart.
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