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Genetic Disorders
Noonan syndrome involves unusual facial characteristics, short stature, heart defects, bleeding problems, developmental delays and malformations of the ribs.
Noonan syndrome is a disorder that involves unusual facial … delays, and malformations of the bones of the rib cage. … Noonan syndrome is a disorder that involves unusual facial …
News Release
NHGRI researchers and their collaborators, have successfully used facial analysis software to diagnose Noonan syndrome in Africans, Asians and Latin Americans.
… successfully used facial analysis software to diagnose Noonan syndrome in Africans, Asians and Latin Americans. They … of the American Journal of Medical Genetics . … While Noonan Syndrome is relatively common -- affecting between 1 …
Educational Resources
A syndrome is a collection of recognizable traits or abnormalities that tend to occur together and are associated with a specific disease.
Syndrome … A syndrome is a collection of recognizable traits or … and are associated with a specific disease. … Fragile X Syndrome, Genetic Variation, Genetic Testing, Genetic Disease … A syndrome, as related to genetics, is a group of traits or …
News Release
NHGRI researchers have successfully used facial recognition software to diagnose a rare, genetic disease in known as DiGeorge syndrome.
… and Latin Americans. … The disease, 22q11.2 deletion syndrome , also known as DiGeorge syndrome and … 2016. The same team of researchers will next study Noonan syndrome and Williams syndrome , both of which are … Atlas of Human Malformations in Diverse Populations, Noonan syndrome, Williams syndrome … NHGRI researchers have …
Educational Resources
Fragile X syndrome is a hereditary disorder affecting mostly males.
… Fragile X Syndrome … Fragile X syndrome is a hereditary disorder affecting mostly males. … … Y Chromosome, Genetic Disorder, Mutation … Fragile X syndrome is a genetic condition that affects a person’s …
Archive
… Proteus Syndrome - Background … Archive …
Archive
… Proteus Syndrome Announcement … Archive …
Genetic Disorders
Velocardiofacial syndrome is the most common syndrome associated with a cleft palate.
… Velocardiofacial syndrome is the most common syndrome associated with a cleft palate. … Velocardiofacial syndrome (VCFS) is a genetic condition that is sometimes …
Genetic Disorders
Antiphospholipid Syndrome is a disorder characterized by elevated levels of antibodies that are associated with clots in the arteries and veins.
… Antiphospholipid Syndrome (APS) is a disorder characterized by elevated levels … (clots in the arteries and veins). … Antiphospholipid syndrome (APS), also known as antiphospholipid antibody syndrome and sometimes Hughes syndrome, is a disorder …
Genetic Disorders
WAGR syndrome is a genetic condition caused by a deletion of genes located on chromosome 11, often causing eye problems and increased risk of cancer in babies.
… WAGR syndrome is a rare genetic condition caused by a deletion of … located on chromosome number 11. Babies born with WAGR syndrome often have eye problems, and are at high risk for … certain types of cancer, and mental disability. … WAGR syndrome is a rare genetic condition that can affect both …